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<meta name="keywords" content="C0948896, disease or syndrome, hypergonadotrophic hypogonadism, hypergonadotropic hypogonadism, hypogonadism, hypergonadotropic, primary gonadal failure, primary hypogonadism, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Hypergonadotropic hypogonadism (Concept Id: C0948896)
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<!--
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypergonadotropic hypogonadism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>184926</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0948896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Hypergonadotropic Hypogonadism; Hypogonadism, Hypergonadotropic</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Primary hypogonadism (370999003); Hypergonadotropic hypogonadism (370999003)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000815">HP:0000815</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Hypergonadotropic hypogonadism</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/4043" ref="tree=MeSH" title="MedGen record for Disorder of endocrine system">Disorder of endocrine system</a></span><ul><li><span class="TLline"><a href="/medgen/9074" ref="tree=MeSH" title="MedGen record for Gonadal disorder">Gonadal disorder</a></span><ul><li><span class="TLline"><a href="/medgen/5711" ref="tree=MeSH" title="MedGen record for Hypogonadism">Hypogonadism</a></span><ul><li><span class="matched_ds">Hypergonadotropic hypogonadism</span><ul><li><span class="TLline"><a href="/medgen/859098" ref="tree=MeSH" title="MedGen record for Congenital Hypergonadotropic Hypogonadism">Congenital Hypergonadotropic Hypogonadism</a></span></li><li><span class="TLline"><a href="/medgen/881803" ref="tree=MeSH" title="MedGen record for Follicle Stimulating Hormone Receptor Deficiency">Follicle Stimulating Hormone Receptor Deficiency</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_6222"><div><strong>Marinesco-Sjögren syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6222</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0024814</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, dysarthria, nystagmus, early-onset (not necessarily congenital) cataracts, myopathy, muscle weakness, and hypotonia. Additional features may include psychomotor delay, hypergonadotropic hypogonadism, short stature, and various skeletal abnormalities. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, nystagmus, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity. Cataracts can develop rapidly and typically require lens extraction in the first decade of life. Although many adults have severe disabilities, life span in MSS appears to be near normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6222">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_120576"><div><strong>Leydig cell agenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120576</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0266432</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development. Two types of LCH have been defined (Toledo, 1992). Type I, a severe form caused by complete inactivation of LHCGR, is characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics. Type II, a milder form caused by partial inactivation of the gene, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. Females with inactivating mutations in the LHCGR gene display a mild phenotype characterized by defective follicular development and ovulation, amenorrhea, and infertility (review by Themmen and Huhtaniemi, 2000).&#13; Reviews&#13; Arnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to isolated LH deficiency (HH23; 228300) are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor: all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB (152780) mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG; 118860) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120576">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_82777"><div><strong>Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82777</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0268151</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia (not covered in this chapter). This GeneReview focuses on: Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), and abnormalities of motor function. Almost all females with classic galactosemia manifest hypergonadatropic hypogonadism or premature ovarian insufficiency (POI). Clinical variant galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage including cirrhosis, and bleeding in untreated infants. This is exemplified by the disease that occurs in African Americans and native Africans in South Africa. Persons with clinical variant galactosemia may be missed with newborn screening as the hypergalactosemia is not as marked as in classic galactosemia and breath testing is normal. If a lactose-restricted diet is provided during the first ten days of life, the severe acute neonatal complications are usually prevented. African Americans with clinical variant galactosemia and adequate early treatment do not appear to be at risk for long-term complications, including POI.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82777">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_78675"><div><strong>Alstrom syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78675</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0268425</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive bilateral sensorineural hearing impairment, acute infantile-onset cardiomyopathy and/or adolescent- or adult-onset restrictive cardiomyopathy, insulin resistance / type 2 diabetes mellitus (T2DM), nonalcoholic fatty liver disease (NAFLD), and chronic progressive kidney disease. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Sensorineural hearing loss presents in the first decade in as many as 70% of individuals and may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to T2DM in the majority by the third decade. Nearly all demonstrate hypertriglyceridemia. Other findings can include endocrine abnormalities (hypothyroidism, hypogonadotropic hypogonadism in males, and hyperandrogenism in females), urologic dysfunction / detrusor instability, progressive decrease in renal function, and hepatic disease (ranging from elevated transaminases to steatohepatitis/NAFLD). Approximately 20% of affected individuals have delay in early developmental milestones, most commonly in gross and fine motor skills. About 30% have a learning disability. Cognitive impairment (IQ &lt;70) is very rare. Wide clinical variability is observed among affected individuals, even within the same family.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78675">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_83337"><div><strong>Woodhouse-Sakati syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0342286</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. More than half of individuals have the neurologic findings of progressive extrapyramidal movements (dystonic spasms with dystonic posturing with dysarthria and dysphagia), moderate bilateral postlingual sensorineural hearing loss, and mild intellectual disability. To date, more than 40 families (including 33 with a molecularly confirmed diagnosis) with a total of 88 affected individuals have been reported in the literature.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/83337">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_138111"><div><strong>PMM2-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138111</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0349653</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia–intellectual disability, and adult stable disability. The clinical manifestations and course are highly variable, ranging from infants who die in the first year of life to mildly affected adults. Clinical findings tend to be similar in sibs. In the infantile multisystem presentation, infants show axial hypotonia, hyporeflexia, esotropia, and developmental delay. Feeding issues, vomiting, faltering growth, and developmental delay are frequently seen. Subcutaneous fat may be excessive over the buttocks and suprapubic region. Two distinct clinical courses are observed: (1) a nonfatal neurologic course with faltering growth, strabismus, developmental delay, cerebellar hypoplasia, and hepatopathy in infancy followed by neuropathy and retinitis pigmentosa in the first or second decade; and (2) a more severe neurologic-multivisceral course with approximately 20% mortality in the first year of life. The late-infantile and childhood ataxia–intellectual disability stage, which begins between ages three and ten years, is characterized by hypotonia, ataxia, severely delayed language and motor development, inability to walk, and IQ of 40 to 70; other findings include seizures, stroke-like episodes or transient unilateral loss of function, coagulopathy, retinitis pigmentosa, joint contractures, and skeletal deformities. In the adult stable disability stage, intellectual ability is stable; peripheral neuropathy is variable, progressive retinitis pigmentosa and myopia are seen, thoracic and spinal deformities with osteoporosis worsen, and premature aging is observed; females may lack secondary sexual development and males may exhibit decreased testicular volume. Hypogonadotropic hypogonadism and coagulopathy may occur. The risk for deep venous thrombosis is increased.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/138111">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_162901"><div><strong>Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162901</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0796031</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/162901">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_162911"><div><strong>Primrose syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162911</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0796121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/162911">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_371919"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371919</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1834846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/371919">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_334557"><div><strong>Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334557</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1843994</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334557">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336901"><div><strong>Fanconi anemia complementation group B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336901</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1845292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336901">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336903"><div><strong>Ovarian dysgenesis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336903</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1845294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). Most cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development (Zinn et al., 1998; Simpson and Rajkovic, 1999; Marozzi et al., 2000).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336903">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341133"><div><strong>Hypotonia-cystinuria syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1848030</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341133">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336448"><div><strong>Testes, rudimentary</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336448</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1848901</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336448">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_338613"><div><strong>Infantile onset spinocerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338613</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1849096</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mitochondrial DNA depletion syndrome-7 is an autosomal recessive severe neurodegenerative disorder characterized primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy. Although originally classified as a form of spinocerebellar ataxia (see, e.g., SCA1, 164400) (Koskinen et al., 1994), it has been reclassified as a mitochondrial DNA depletion syndrome (Hakonen et al., 2008) based on the finding of mtDNA depletion in the brain and liver of affected individuals.&#13; For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/338613">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_340317"><div><strong>Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340317</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1849401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340317">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_346973"><div><strong>Congenital cataracts-facial dysmorphism-neuropathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346973</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1858726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy (CTDP1-CCFDN) is characterized by abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils), mildly dysmorphic facial features apparent in late childhood, and a hypo-/demyelinating, symmetric, distal peripheral neuropathy. The neuropathy is predominantly motor at the onset and results in delays in early motor development, progressing to severe disability by the third decade of life. Secondary foot deformities and scoliosis are common. Sensory neuropathy develops after age ten years. Most affected individuals have a mild nonprogressive intellectual deficit and cerebellar involvement including ataxia, nystagmus, intention tremor, and dysmetria. All have short stature and most have subnormal weight. Adults have hypogonadotropic hypogonadism. Parainfectious rhabdomyolysis (profound muscle weakness, myoglobinuria, and excessively elevated serum concentration of creatine kinase usually following a viral infection) is a potentially life-threatening complication. To date all affected individuals and carriers identified have been from the Romani population.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346973">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_400532"><div><strong>H syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400532</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1864445</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC was described as an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/400532">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_743307"><div><strong>Aromatase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>743307</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1960539</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Aromatase deficiency is a rare autosomal recessive disorder in which individuals cannot synthesize endogenous estrogens. If a fetus lacks aromatase activity, dehydroepiandrosterone sulfate produced by the fetal adrenal glands cannot be converted to estrogen by the placenta, and is converted to testosterone peripherally and results in virilization of both fetus and mother. Virilization manifests as pseudohermaphroditism in female infants, with hirsutism and acne in the mother; the maternal indicators resolve following delivery. Affected females are usually diagnosed at birth because of the pseudohermaphroditism. Cystic ovaries and delayed bone maturation can occur during childhood and adolescence in these girls, who present at puberty with primary amenorrhea, failure of breast development, virilization, and hypergonadotropic hypogonadism. Affected males do not present with obvious defects at birth. Their clinical symptoms include tall stature, delayed skeletal maturation, delayed epiphyseal closure, bone pain, eunuchoid body proportions, and excess adiposity. Estrogen replacement therapy reverses the symptoms in males and females (summary by Jones et al., 2007).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/743307">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_388650"><div><strong>Primary hypergonadotropic hypogonadism-partial alopecia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388650</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2673480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/388650">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_412662"><div><strong>46,XY sex reversal 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412662</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2748896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/412662">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_416526"><div><strong>RIN2 syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416526</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2751321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MACS syndrome is an autosomal recessive connective tissue disorder named for the variable features of macrocephaly, alopecia, cutis laxa, and scoliosis (summary by Kameli et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/416526">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_416704"><div><strong>46,XY sex reversal 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416704</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2752149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Sex reversal in an individual associated with a 9p24.3 deletion.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/416704">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462340"><div><strong>Sterol carrier protein 2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462340</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3150990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462340">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_463207"><div><strong>Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463207</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3151857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts. Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the internal carotid arteries and the main branches, leading to the development of small collateral vessels (moyamoya vessels) at the base of the brain. Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/463207">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_463627"><div><strong>Fanconi anemia complementation group D2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463627</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3160738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/463627">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_463628"><div><strong>Fanconi anemia complementation group E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463628</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3160739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/463628">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_482058"><div><strong>Alpha-methylacyl-CoA racemase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482058</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3280428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by Smith et al., 2010).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/482058">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_483324"><div><strong>Fanconi anemia complementation group C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483324</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3468041</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/483324">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_483333"><div><strong>Fanconi anemia complementation group A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483333</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3469521</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/483333">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_764868"><div><strong>Coenzyme Q10 deficiency, primary, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>764868</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3551954</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).&#13; The disorder has been associated with 4 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); and Leigh syndrome with growth retardation (van Maldergem et al., 2002). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment.&#13; Genetic Heterogeneity of Primary Coenzyme Q10 Deficiency&#13; See also COQ10D2 (614651), caused by mutation in the PDSS1 gene (607429) on chromosome 10p12; COQ10D3 (614652), caused by mutation in the PDSS2 gene (610564) on chromosome 6q21; COQ10D4 (612016), caused by mutation in the COQ8 gene (ADCK3; 606980) on chromosome 1q42; COQ10D5 (614654), caused by mutation in the COQ9 gene (612837) on chromosome 16q21; COQ10D6 (614650), caused by mutation in the COQ6 gene (614647) on chromosome 14q24; COQ10D7 (616276), caused by mutation in the COQ4 gene (612898) on chromosome 9q34; COQ10D8 (616733), caused by mutation in the COQ7 gene (601683) on chromosome 16p13; and COQ10D9 (619028), caused by mutation in the COQ5 gene (616359) on chromosome 12q24.&#13; Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD; 231680), caused by mutation in the ETFDH gene (231675) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1; 208920), caused by mutation in the APTX gene (606350) on chromosome 9p13.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/764868">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767139"><div><strong>Obesity due to leptin receptor gene deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767139</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (summary by Dehghani et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767139">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767376"><div><strong>Mitochondrial DNA depletion syndrome 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767376</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554462</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities (summary by Kornblum et al., 2013).&#13; For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767376">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_814744"><div><strong>Perrault syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>814744</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3808414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/814744">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_863744"><div><strong>Perrault syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863744</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4015307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/863744">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_904735"><div><strong>Acromesomelic dysplasia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904735</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Acromesomelic dysplasia-3 (AMD3) is an autosomal recessive osteochondrodysplasia characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes. When present, genital anomalies include absent ovaries, hypoplastic uterus, hypergonadotropic hypogonadism, and primary amenorrhea (summary by Stange et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/904735">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_924576"><div><strong>MIRAGE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924576</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4284088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MIRAGE syndrome is an acronym for the major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Cytopenias are typically seen soon after birth; thrombocytopenia is the most common followed by anemia and pancytopenia. Recurrent infections from early infancy include pneumonia, urinary tract infection, gastroenteritis, meningitis, otitis media, dermatitis, subcutaneous abscess, and sepsis. Reported genital phenotypes in those with 46,XY karyotype included hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia. Hypoplastic or dysgenetic ovaries have been reported in females. Gastrointestinal complications include chronic diarrhea and esophageal dysfunction. Moderate-to-severe developmental delay is reported in most affected individuals. Autonomic dysfunction and renal dysfunction are also reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/924576">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934660"><div><strong>Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934660</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4310693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy (NADGP) is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934660">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1631307"><div><strong>Combined oxidative phosphorylation deficiency 34</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631307</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4693450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015).&#13; For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1631307">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648307"><div><strong>Ovarian dysgenesis 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648307</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4748084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ovarian dysgenesis-6 (ODG6) is characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and small or absent ovaries on imaging studies. Males appear to be unaffected (Weinberg-Shukron et al., 2015; Tucker et al., 2022).&#13; For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648307">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1727162"><div><strong>46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1727162</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1727162">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1812715"><div><strong>Combined oxidative phosphorylation deficiency 54</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1812715</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5676912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-54 (COXPD54) is an autosomal recessive disorder with pleiotropic multisystem presentations resulting from a disruption in mitochondrial transcription and translation. The phenotype is highly variable. Many patients have early-onset sensorineural hearing loss, sometimes in isolation, and sometimes associated with global developmental delay or primary ovarian failure. Other features may include peripheral hypertonia, seizures, muscle weakness, behavioral abnormalities, and leukoencephalopathy on brain imaging. Serum lactate may or may not be elevated (summary by Hochberg et al., 2021).&#13; For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1812715">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1845412"><div><strong>Diabetes, deafness, developmental delay, and short stature syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845412</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5882732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Diabetes, deafness, developmental delay, and short stature syndrome (DDDS) is characterized by childhood-onset autoantibody-negative diabetes mellitus and bilateral sensorineural deafness, as well as short stature, microcephaly, and developmental delay (Montaser et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1845412">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1727162" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412662" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XY sex reversal 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XY sex reversal 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acromesomelic dysplasia 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alpha-methylacyl-CoA racemase deficiency</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (43)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78675" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alstrom syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_743307" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aromatase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_764868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coenzyme Q10 deficiency, primary, 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1631307" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 34</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1812715" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 54</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital cataracts-facial dysmorphism-neuropathy syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82777" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845412" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes, deafness, developmental delay, and short stature syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483333" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group B</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group C</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group D2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463628" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group E</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">H syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia-cystinuria syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile onset spinocerebellar ataxia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120576" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leydig cell agenesis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334557" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marinesco-Sjögren syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924576" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MIRAGE syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 11</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463207" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934660" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Obesity due to leptin receptor gene deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian dysgenesis 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648307" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian dysgenesis 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_814744" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perrault syndrome 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863744" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perrault syndrome 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_138111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PMM2-congenital disorder of glycosylation</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388650" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hypergonadotropic hypogonadism-partial alopecia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primrose syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340317" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">RIN2 syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462340" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sterol carrier protein 2 deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Testes, rudimentary</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Woodhouse-Sakati syndrome</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/33687345">MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Seppä S,
Kuiri-Hänninen T,
Holopainen E,
Voutilainen R</span><br />
<span class="medgenPMjournal">Eur J Endocrinol</span>
2021 May 4;184(6):R225-R242.
doi: 10.1530/EJE-20-1487.
<span class="bold">PMID: </span><a href="/pubmed/33687345" target="_blank">33687345</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32959490">European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zitzmann M,
Aksglaede L,
Corona G,
Isidori AM,
Juul A,
T'Sjoen G,
Kliesch S,
D'Hauwers K,
Toppari J,
Słowikowska-Hilczer J,
Tüttelmann F,
Ferlin A</span><br />
<span class="medgenPMjournal">Andrology</span>
2021 Jan;9(1):145-167.
Epub 2020 Oct 6
doi: 10.1111/andr.12909.
<span class="bold">PMID: </span><a href="/pubmed/32959490" target="_blank">32959490</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31213699">Turner syndrome: mechanisms and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gravholt CH,
Viuff MH,
Brun S,
Stochholm K,
Andersen NH</span><br />
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
2019 Oct;15(10):601-614.
Epub 2019 Jun 18
doi: 10.1038/s41574-019-0224-4.
<span class="bold">PMID: </span><a href="/pubmed/31213699" target="_blank">31213699</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypergonadotropic%20hypogonadism%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (43)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/35728697">Turner Syndrome and Fertility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Viuff M,
Gravholt CH</span><br />
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
2022 Aug;83(4):244-249.
Epub 2022 Jun 18
doi: 10.1016/j.ando.2022.06.001.
<span class="bold">PMID: </span><a href="/pubmed/35728697" target="_blank">35728697</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32959490">European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zitzmann M,
Aksglaede L,
Corona G,
Isidori AM,
Juul A,
T'Sjoen G,
Kliesch S,
D'Hauwers K,
Toppari J,
Słowikowska-Hilczer J,
Tüttelmann F,
Ferlin A</span><br />
<span class="medgenPMjournal">Andrology</span>
2021 Jan;9(1):145-167.
Epub 2020 Oct 6
doi: 10.1111/andr.12909.
<span class="bold">PMID: </span><a href="/pubmed/32959490" target="_blank">32959490</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32934798">Recent advances in understanding primary ovarian insufficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wesevich V,
Kellen AN,
Pal L</span><br />
<span class="medgenPMjournal">F1000Res</span>
2020;9
Epub 2020 Sep 7
doi: 10.12688/f1000research.26423.1.
<span class="bold">PMID: </span><a href="/pubmed/32934798" target="_blank">32934798</a><a href="/pmc/articles/PMC7477642" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27644703">Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bonomi M,
Rochira V,
Pasquali D,
Balercia G,
Jannini EA,
Ferlin A;
Klinefelter ItaliaN Group (KING)</span><br />
<span class="medgenPMjournal">J Endocrinol Invest</span>
2017 Feb;40(2):123-134.
Epub 2016 Sep 19
doi: 10.1007/s40618-016-0541-6.
<span class="bold">PMID: </span><a href="/pubmed/27644703" target="_blank">27644703</a><a href="/pmc/articles/PMC5269463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23118429">Clinical review: Klinefelter syndrome--a clinical update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Groth KA,
Skakkebæk A,
Høst C,
Gravholt CH,
Bojesen A</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2013 Jan;98(1):20-30.
Epub 2012 Nov 1
doi: 10.1210/jc.2012-2382.
<span class="bold">PMID: </span><a href="/pubmed/23118429" target="_blank">23118429</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypergonadotropic%20hypogonadism%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (166)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38677870">Hypogonadotropic Hypogonadism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bangalore Krishna K,
Fuqua JS,
Witchel SF</span><br />
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
2024 Jun;53(2):279-292.
Epub 2024 Feb 19
doi: 10.1016/j.ecl.2024.01.008.
<span class="bold">PMID: </span><a href="/pubmed/38677870" target="_blank">38677870</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35695701">The Changing Face of Turner Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gravholt CH,
Viuff M,
Just J,
Sandahl K,
Brun S,
van der Velden J,
Andersen NH,
Skakkebaek A</span><br />
<span class="medgenPMjournal">Endocr Rev</span>
2023 Jan 12;44(1):33-69.
doi: 10.1210/endrev/bnac016.
<span class="bold">PMID: </span><a href="/pubmed/35695701" target="_blank">35695701</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31213699">Turner syndrome: mechanisms and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gravholt CH,
Viuff MH,
Brun S,
Stochholm K,
Andersen NH</span><br />
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
2019 Oct;15(10):601-614.
Epub 2019 Jun 18
doi: 10.1038/s41574-019-0224-4.
<span class="bold">PMID: </span><a href="/pubmed/31213699" target="_blank">31213699</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30100005">Male and Female Hypogonadism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Richard-Eaglin A</span><br />
<span class="medgenPMjournal">Nurs Clin North Am</span>
2018 Sep;53(3):395-405.
doi: 10.1016/j.cnur.2018.04.006.
<span class="bold">PMID: </span><a href="/pubmed/30100005" target="_blank">30100005</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26316242">Premature Menopause.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torrealday S,
Pal L</span><br />
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
2015 Sep;44(3):543-57.
Epub 2015 Jun 22
doi: 10.1016/j.ecl.2015.05.004.
<span class="bold">PMID: </span><a href="/pubmed/26316242" target="_blank">26316242</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypergonadotropic%20hypogonadism%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (252)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36580771">The use of hormone stimulation in male infertility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Foran D,
Chen R,
Jayasena CN,
Minhas S,
Tharakan T</span><br />
<span class="medgenPMjournal">Curr Opin Pharmacol</span>
2023 Feb;68:102333.
Epub 2022 Dec 27
doi: 10.1016/j.coph.2022.102333.
<span class="bold">PMID: </span><a href="/pubmed/36580771" target="_blank">36580771</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36714599">Growth in girls with Turner syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Isojima T,
Yokoya S</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2022;13:1068128.
Epub 2023 Jan 12
doi: 10.3389/fendo.2022.1068128.
<span class="bold">PMID: </span><a href="/pubmed/36714599" target="_blank">36714599</a><a href="/pmc/articles/PMC9877326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35728697">Turner Syndrome and Fertility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Viuff M,
Gravholt CH</span><br />
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
2022 Aug;83(4):244-249.
Epub 2022 Jun 18
doi: 10.1016/j.ando.2022.06.001.
<span class="bold">PMID: </span><a href="/pubmed/35728697" target="_blank">35728697</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31213699">Turner syndrome: mechanisms and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gravholt CH,
Viuff MH,
Brun S,
Stochholm K,
Andersen NH</span><br />
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
2019 Oct;15(10):601-614.
Epub 2019 Jun 18
doi: 10.1038/s41574-019-0224-4.
<span class="bold">PMID: </span><a href="/pubmed/31213699" target="_blank">31213699</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29438552">Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Klein KO,
Rosenfield RL,
Santen RJ,
Gawlik AM,
Backeljauw PF,
Gravholt CH,
Sas TCJ,
Mauras N</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2018 May 1;103(5):1790-1803.
doi: 10.1210/jc.2017-02183.
<span class="bold">PMID: </span><a href="/pubmed/29438552" target="_blank">29438552</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypergonadotropic%20hypogonadism%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (130)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35728697">Turner Syndrome and Fertility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Viuff M,
Gravholt CH</span><br />
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
2022 Aug;83(4):244-249.
Epub 2022 Jun 18
doi: 10.1016/j.ando.2022.06.001.
<span class="bold">PMID: </span><a href="/pubmed/35728697" target="_blank">35728697</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32748610">Delayed puberty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Butler G,
Purushothaman P</span><br />
<span class="medgenPMjournal">Minerva Pediatr</span>
2020 Dec;72(6):484-490.
Epub 2020 Aug 4
doi: 10.23736/S0026-4946.20.05968-X.
<span class="bold">PMID: </span><a href="/pubmed/32748610" target="_blank">32748610</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22373003">Nijmegen breakage syndrome (NBS).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chrzanowska KH,
Gregorek H,
Dembowska-Bagińska B,
Kalina MA,
Digweed M</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2012 Feb 28;7:13.
doi: 10.1186/1750-1172-7-13.
<span class="bold">PMID: </span><a href="/pubmed/22373003" target="_blank">22373003</a><a href="/pmc/articles/PMC3314554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8091065">Etiology, biology, and epidemiology of ovarian cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baker TR,
Piver MS</span><br />
<span class="medgenPMjournal">Semin Surg Oncol</span>
1994 Jul-Aug;10(4):242-8.
doi: 10.1002/ssu.2980100403.
<span class="bold">PMID: </span><a href="/pubmed/8091065" target="_blank">8091065</a></div>
<div class="nl"><a target="_blank" href="/pubmed/388805">Clomiphene citrate therapy for male infertility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Allag IS,
Alexander NJ</span><br />
<span class="medgenPMjournal">Urology</span>
1979 Nov;14(5):500-3.
doi: 10.1016/0090-4295(79)90184-5.
<span class="bold">PMID: </span><a href="/pubmed/388805" target="_blank">388805</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypergonadotropic%20hypogonadism%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (76)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/36714599">Growth in girls with Turner syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Isojima T,
Yokoya S</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2022;13:1068128.
Epub 2023 Jan 12
doi: 10.3389/fendo.2022.1068128.
<span class="bold">PMID: </span><a href="/pubmed/36714599" target="_blank">36714599</a><a href="/pmc/articles/PMC9877326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32748610">Delayed puberty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Butler G,
Purushothaman P</span><br />
<span class="medgenPMjournal">Minerva Pediatr</span>
2020 Dec;72(6):484-490.
Epub 2020 Aug 4
doi: 10.23736/S0026-4946.20.05968-X.
<span class="bold">PMID: </span><a href="/pubmed/32748610" target="_blank">32748610</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30086863">Management of hypogonadism from birth to adolescence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Howard SR,
Dunkel L</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
2018 Aug;32(4):355-372.
Epub 2018 Jun 6
doi: 10.1016/j.beem.2018.05.011.
<span class="bold">PMID: </span><a href="/pubmed/30086863" target="_blank">30086863</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28681255">Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cekic S,
Saglam H,
Gorukmez O,
Yakut T,
Tarim O,
Kilic SS</span><br />
<span class="medgenPMjournal">J Clin Immunol</span>
2017 Aug;37(6):524-528.
Epub 2017 Jul 5
doi: 10.1007/s10875-017-0412-8.
<span class="bold">PMID: </span><a href="/pubmed/28681255" target="_blank">28681255</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25131394">Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zeidler C,
Woelfle J,
Draaken M,
Mughal SS,
Große G,
Hilger AC,
Dworschak GC,
Boemers TM,
Jenetzky E,
Zwink N,
Lacher M,
Schmidt D,
Schmiedeke E,
Grasshoff-Derr S,
Märzheuser S,
Holland-Cunz S,
Schäfer M,
Bartels E,
Keppler K,
Palta M,
Leonhardt J,
Kujath C,
Rißmann A,
Nöthen MM,
Reutter H,
Ludwig M</span><br />
<span class="medgenPMjournal">Birth Defects Res A Clin Mol Teratol</span>
2014 Oct;100(10):750-9.
Epub 2014 Aug 8
doi: 10.1002/bdra.23278.
<span class="bold">PMID: </span><a href="/pubmed/25131394" target="_blank">25131394</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypergonadotropic%20hypogonadism%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (108)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/36200708">Hormone therapy for uterine and endometrial development in women with premature ovarian insufficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Craciunas L,
Zdoukopoulos N,
Vinayagam S,
Mohiyiddeen L</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2022 Oct 6;10(10):CD008209.
doi: 10.1002/14651858.CD008209.pub2.
<span class="bold">PMID: </span><a href="/pubmed/36200708" target="_blank">36200708</a><a href="/pmc/articles/PMC9536017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35526153">Does hormonal therapy improve sperm retrieval rates in men with non-obstructive azoospermia: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tharakan T,
Corona G,
Foran D,
Salonia A,
Sofikitis N,
Giwercman A,
Krausz C,
Yap T,
Jayasena CN,
Minhas S</span><br />
<span class="medgenPMjournal">Hum Reprod Update</span>
2022 Aug 25;28(5):609-628.
doi: 10.1093/humupd/dmac016.
<span class="bold">PMID: </span><a href="/pubmed/35526153" target="_blank">35526153</a><a href="/pmc/articles/PMC9434299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35394664">Clinical features and prevalence of Klinefelter syndrome in transgender individuals: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liang B,
Cheung AS,
Nolan BJ</span><br />
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
2022 Jul;97(1):3-12.
Epub 2022 Apr 15
doi: 10.1111/cen.14734.
<span class="bold">PMID: </span><a href="/pubmed/35394664" target="_blank">35394664</a><a href="/pmc/articles/PMC9540025" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31336995">46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Terribile M,
Stizzo M,
Manfredi C,
Quattrone C,
Bottone F,
Giordano DR,
Bellastella G,
Arcaniolo D,
De Sio M</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2019 Jul 12;55(7)
doi: 10.3390/medicina55070371.
<span class="bold">PMID: </span><a href="/pubmed/31336995" target="_blank">31336995</a><a href="/pmc/articles/PMC6681203" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29680294">Klinefelter Syndrome. The Effects of Early Androgen Therapy on Competence and Behavioral Phenotype.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Flannigan R,
Patel P,
Paduch DA</span><br />
<span class="medgenPMjournal">Sex Med Rev</span>
2018 Oct;6(4):595-606.
Epub 2018 Apr 19
doi: 10.1016/j.sxmr.2018.02.008.
<span class="bold">PMID: </span><a href="/pubmed/29680294" target="_blank">29680294</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypergonadotropic%20hypogonadism%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypergonadotropic%20hypogonadism%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hypergonadotropic%20hypogonadism%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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