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<meta name="keywords" content="C1563720, autosomal dominant form of kallmann syndrome, disease or syndrome, fgfr1, fgfr1 hypogonadotropic hypogonadism, hh2, hypogonadotropic hypogonadism 2 with or without anosmia, hypogonadotropic hypogonadism 2 with or without anosmia, susceptibility to, hypogonadotropic hypogonadism 2 without anosmia, hypogonadotropic hypogonadism 2 without anosmia, susceptibility to, hypogonadotropic hypogonadism caused by mutation in fgfr1, kal2, kallmann syndrome 2, 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="Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., &lt;4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Hypogonadotropic hypogonadism 2 with or without anosmia (Concept Id: C1563720)
- MedGen - NCBI</title>
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<!--imgCountBooks = 4--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (4)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1334/bin/kms-Image003.gif" src-large="/books/NBK1334/bin/kms-Image003.jpg" /></a><br /><a href="/books/NBK1334/figure/kms.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1334/bin/kms-Image001.gif" src-large="/books/NBK1334/bin/kms-Image001.jpg" /></a><br /><a href="/books/NBK1334/figure/kms.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1334/bin/kms-Image002.gif" src-large="/books/NBK1334/bin/kms-Image002.jpg" /></a><br /><a href="/books/NBK1334/figure/kms.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1334/bin/kms-Image004.gif" src-large="/books/NBK1334/bin/kms-Image004.jpg" /></a><br /><a href="/books/NBK1334/figure/kms.F4/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Hypogonadotropic hypogonadism 2 with or without anosmia<span class="h1sub">(HH2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>289648</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.">C1563720</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>HH2; HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO; Kallmann syndrome 2</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="FGFR1 - ID: 2260 - NCBI Gene" href="/gene/2260" class="medgenPMinfo">FGFR1</a> (8p11.23)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0007844" target="_blank">MONDO:0007844</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/147950" target="_blank">147950</a></td></tr>
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<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1334" target="_blank">Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency</a></div><div>Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., &lt;4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1334#kms.Summary" target="NBK1334">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1334#kms.GeneReview_Scope" target="NBK1334">GeneReview Scope</a>  |  <a class="medgenPMinfo" href="/books/NBK1334#kms.Diagnosis" target="NBK1334">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1334#kms.Clinical_Characteristics" target="NBK1334">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1334#kms.Genetically_Related_Allelic_Disorder" target="NBK1334">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1334#kms.Differential_Diagnosis" target="NBK1334">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1334#kms.Management" target="NBK1334">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1334#kms.Genetic_Counseling" target="NBK1334">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1334#kms.Resources" target="NBK1334">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1334#kms.Molecular_Genetics" target="NBK1334">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1334#kms.Chapter_Notes" target="NBK1334">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1334#kms.References" target="NBK1334">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Ravikumar Balasubramanian  |  William F Crowley   <a href="/books/NBK1334" target="NBK1334" title="NCBI Bookshelf: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency">view full author information</a></div></div>
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<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'&#13;
Although HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction (Sykiotis et al., 2010).&#13;
Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without Anosmia&#13;
Other forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 (244200), caused by mutation in the PROKR2 gene (607123); HH4 (610628), caused by mutation in the PROK2 gene (607002); HH5 (612370), caused by mutation in the CHD7 gene (608892); HH6 (612702), caused by mutation in the FGF8 gene (600483); HH7 (146110), caused by mutation in the GNRHR gene (138850); HH8 (614837), caused by mutation in the KISS1R gene (604161); HH9 (614838), caused by mutation in the NELF gene (608137); HH10 (614839), caused by mutation in the TAC3 gene (162330); HH11 (614840), caused by mutation in the TACR3 gene (162332); HH12 (614841), caused by mutation in the GNRH1 gene (152760); HH13 (614842), caused by mutation in the KISS1 gene (603286); HH14 (614858), caused by mutation in the WDR11 gene (606417); HH15 (614880), caused by mutation in the HS6ST1 gene (604846); HH16 (614897), caused by mutation in the SEMA3A gene (603961); HH17 (615266), caused by mutation in the SPRY4 gene (607984); HH18 (615267), caused by mutation in the IL17RD gene (606807); HH19 (615269), caused by mutation in the DUSP6 gene (602748); HH20 (615270), caused by mutation in the FGF17 gene (603725); HH21 (615271), caused by mutation in the FLRT3 gene (604808); HH22 (616030), caused by mutation in the FEZF1 gene (613301); HH23 (228300), caused by mutation in the LHB gene (152780); HH24 (229070), caused by mutation in the FSHB gene (136530); HH25 (618841), caused by mutation in the NDNF gene (616506); and HH26 (619718), caused by mutation in the TCF12 gene.&#13;
There is also an X-linked form of the disorder (HH1; 308700), caused by mutation in the KAL1 gene (300836).&#13;
There is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by Chan, 2011). Sykiotis et al. (2010), for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.&#13;
Reviews&#13;
Valdes-Socin et al. (2014) reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.&#13;
Young et al. (2019) reviewed the genetics, diagnosis, and clinical management of patients with congenital hypogonadotropic hypogonadism.  <a target="_blank" href="http://www.omim.org/entry/147950">http://www.omim.org/entry/147950</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.<br /><br />In Kallmann syndrome, the sense of smell is either diminished (hyposmia) or completely absent (anosmia). This feature distinguishes Kallmann syndrome from most other forms of hypogonadotropic hypogonadism, which do not affect the sense of smell. Many people with Kallmann syndrome are not aware that they are unable to detect odors until the impairment is discovered through testing.<br /><br />This disorder is a form of hypogonadotropic hypogonadism, which is a condition resulting from a lack of production of certain hormones that direct sexual development. These hormones are normally made in a part of the brain called the hypothalamus. Males born with hypogonadotropic hypogonadism often have an unusually small penis (micropenis) and undescended testes (cryptorchidism). At puberty, most affected individuals do not develop secondary sex characteristics, such as the growth of facial hair and deepening of the voice in males, the start of monthly periods (menstruation) and breast development in females, and a growth spurt in both sexes. Without treatment, most affected men and women are unable to have biological children (infertile).<br /><br />Kallmann syndrome can have a wide variety of additional signs and symptoms. These include a failure of one kidney to develop (unilateral renal agenesis), abnormalities of bones in the fingers or toes, a cleft lip with or without an opening in the roof of the mouth (a cleft palate), abnormal eye movements, hearing loss, and abnormalities of tooth development. Some affected individuals have a feature called bimanual synkinesis, in which the movements of one hand are mirrored by the other hand. Bimanual synkinesis can make it difficult to do tasks that require the hands to move separately, such as playing a musical instrument.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/kallmann-syndrome">https://medlineplus.gov/genetics/condition/kallmann-syndrome</a></div></div>
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<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</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.">C0010417</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_115918"><div><strong>Primary amenorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115918</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.">C0232939</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally late or absent menarche in a female with normal secondary sexual characteristics.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/115918">Feature record</a> | <a href="/medgen?term=%22Primary%20amenorrhea%22%5BClinical%20Features%5D%20OR%20115918%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1633603"><div><strong>Micropenis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633603</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.">C4551492</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1633603">Feature record</a> | <a href="/medgen?term=%22Micropenis%22%5BClinical%20Features%5D%20OR%201633603%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_78566"><div><strong>Ectrodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78566</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.">C0265554</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78566">Feature record</a> | <a href="/medgen?term=%22Ectrodactyly%22%5BClinical%20Features%5D%20OR%2078566%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1644094"><div><strong>Clinodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644094</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.">C4551485</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1644094">Feature record</a> | <a href="/medgen?term=%22Clinodactyly%22%5BClinical%20Features%5D%20OR%201644094%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_892473"><div><strong>Abnormal cardiovascular system morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892473</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.">C4049796</a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Any structural anomaly of the heart and blood vessels.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/892473">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cardiovascular%20system%20morphology%22%5BClinical%20Features%5D%20OR%20892473%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9164"><div><strong>Sensorineural hearing loss disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9164</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.">C0018784</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9164">Feature record</a> | <a href="/medgen?term=%22Sensorineural%20hearing%20loss%20disorder%22%5BClinical%20Features%5D%20OR%209164%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1950"><div><strong>Anosmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1950</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.">C0003126</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1950">Feature record</a> | <a href="/medgen?term=%22Anosmia%22%5BClinical%20Features%5D%20OR%201950%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_104498"><div><strong>Corpus callosum, agenesis of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104498</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.">C0175754</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600).&#13; Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/104498">Feature record</a> | <a href="/medgen?term=%22Corpus%20callosum%2C%20agenesis%20of%22%5BClinical%20Features%5D%20OR%20104498%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_473166"><div><strong>Bimanual synkinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473166</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.">C0454455</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/473166">Feature record</a> | <a href="/medgen?term=%22Bimanual%20synkinesia%22%5BClinical%20Features%5D%20OR%20473166%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_473584"><div><strong>Hyposmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473584</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.">C2364082</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/473584">Feature record</a> | <a href="/medgen?term=%22Hyposmia%22%5BClinical%20Features%5D%20OR%20473584%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1696661"><div><strong>Aplasia of the olfactory bulb</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1696661</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.">C5139362</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Lack of formation (congenital absence) of the olfactory bulb.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1696661">Feature record</a> | <a href="/medgen?term=%22Aplasia%20of%20the%20olfactory%20bulb%22%5BClinical%20Features%5D%20OR%201696661%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</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.">C0029453</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3395"><div><strong>Choanal atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3395</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.">C0008297</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3395">Feature record</a> | <a href="/medgen?term=%22Choanal%20atresia%22%5BClinical%20Features%5D%20OR%203395%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_40327"><div><strong>Cleft upper lip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40327</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.">C0008924</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/40327">Feature record</a> | <a href="/medgen?term=%22Cleft%20upper%20lip%22%5BClinical%20Features%5D%20OR%2040327%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</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.">C2981150</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_869773"><div><strong>Tooth agenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869773</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.">C4024202</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The absence of one or more teeth from the normal series by a failure to develop</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/869773">Feature record</a> | <a href="/medgen?term=%22Tooth%20agenesis%22%5BClinical%20Features%5D%20OR%20869773%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_46203"><div><strong>Delayed puberty</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>46203</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.">C0034012</a></dd><dt><span class="dotprefix"></span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/46203">Feature record</a> | <a href="/medgen?term=%22Delayed%20puberty%22%5BClinical%20Features%5D%20OR%2046203%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_82883"><div><strong>Hypogonadotropic hypogonadism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82883</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.">C0271623</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82883">Feature record</a> | <a href="/medgen?term=%22Hypogonadotropic%20hypogonadism%22%5BClinical%20Features%5D%20OR%2082883%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6694"><div><strong>Gynecomastia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6694</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.">C0018418</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal development of large mammary glands in males resulting in breast enlargement.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6694">Feature record</a> | <a href="/medgen?term=%22Gynecomastia%22%5BClinical%20Features%5D%20OR%206694%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_116097"><div><strong>Iris coloboma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116097</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.">C0240063</a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A coloboma of the iris.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116097">Feature record</a> | <a href="/medgen?term=%22Iris%20coloboma%22%5BClinical%20Features%5D%20OR%20116097%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3395" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choanal atresia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft upper lip</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869773" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tooth agenesis</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clinodactyly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectrodactyly</a></span></li></ul></li><li><span class="TLline">Abnormality of the breast</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gynecomastia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cardiovascular system morphology</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_46203" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed puberty</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypogonadotropic hypogonadism</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Iris coloboma</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1633603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micropenis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary amenorrhea</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anosmia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1696661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia of the olfactory bulb</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bimanual synkinesia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_104498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corpus callosum, agenesis of</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyposmia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorineural hearing loss disorder</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0162809[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=102469">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0162809[DISCUI]&amp;test_type=Research" ref="ncbi_uid=102469">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=102469" target="_blank" href="/omim/308700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1334/" ref="ncbi_uid=102469">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=102469" ref="ncbi_uid=102469">V</a></span></span><span class="TLline"><a href="/medgen/102469" ref="tree=GTR&amp;ncbi_uid=102469&amp;link_uid=102469" title="View MedGen record for 'Hypogonadism with anosmia'">Hypogonadism with anosmia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1563719[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=295872">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=295872" target="_blank" href="/omim/308700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1334/" ref="ncbi_uid=295872">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=295872" ref="ncbi_uid=295872">V</a></span></span><span class="TLline"><a href="/medgen/295872" ref="tree=GTR&amp;ncbi_uid=295872&amp;link_uid=295872" title="View MedGen record for 'Hypogonadotropic hypogonadism 1 with or without anosmia'">Hypogonadotropic hypogonadism 1 with or without anosmia</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1563720[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=289648">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=289648" target="_blank" href="/omim/147950">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1334/" ref="ncbi_uid=289648">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=289648" ref="ncbi_uid=289648">V</a></span></span><span class="TLline">Hypogonadotropic hypogonadism 2 with or without anosmia</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3550478[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=763392">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=763392" target="_blank" href="/omim/244200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1334/" ref="ncbi_uid=763392">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=763392" ref="ncbi_uid=763392">V</a></span></span><span class="TLline"><a href="/medgen/763392" ref="tree=GTR&amp;ncbi_uid=763392&amp;link_uid=763392" title="View MedGen record for 'Hypogonadotropic hypogonadism 3 with or without anosmia'">Hypogonadotropic hypogonadism 3 with or without anosmia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3552343[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=765257">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=765257" target="_blank" href="/omim/607002">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1334/" ref="ncbi_uid=765257">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=765257" ref="ncbi_uid=765257">V</a></span></span><span class="TLline"><a href="/medgen/765257" ref="tree=GTR&amp;ncbi_uid=765257&amp;link_uid=765257" title="View MedGen record for 'Hypogonadotropic hypogonadism 4 with or without anosmia'">Hypogonadotropic hypogonadism 4 with or without anosmia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3552553[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=765467">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=765467" target="_blank" href="/omim/612370">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1117%20OR%20NBK1334)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=765467">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=765467" ref="ncbi_uid=765467">V</a></span></span><span class="TLline"><a href="/medgen/765467" ref="tree=GTR&amp;ncbi_uid=765467&amp;link_uid=765467" title="View MedGen record for 'Hypogonadotropic hypogonadism 5 with or without anosmia'">Hypogonadotropic hypogonadism 5 with or without anosmia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3552574[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=765488">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=765488" target="_blank" href="/omim/600483">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1334/" ref="ncbi_uid=765488">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=765488" ref="ncbi_uid=765488">V</a></span></span><span class="TLline"><a href="/medgen/765488" ref="tree=GTR&amp;ncbi_uid=765488&amp;link_uid=765488" title="View MedGen record for 'Hypogonadotropic hypogonadism 6 with or without anosmia'">Hypogonadotropic hypogonadism 6 with or without anosmia</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/769757" ref="tree=MeSH" title="MedGen record for Congenital Reproductive System Abnormality">Congenital Reproductive System Abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/415936" ref="tree=MeSH" title="MedGen record for Disorder of sexual differentiation">Disorder of sexual differentiation</a></span><ul><li><span class="TLline"><a href="/medgen/414114" ref="tree=MeSH" title="MedGen record for 46,XY disorder of sex development">46,XY disorder of sex development</a></span><ul><li><span class="TLline"><a href="/medgen/102469" ref="tree=MeSH" title="MedGen record for Hypogonadism with anosmia">Hypogonadism with anosmia</a></span><ul><li><span class="matched_ds">Hypogonadotropic hypogonadism 2 with or without anosmia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/32576618">Parkinson's disease: etiopathogenesis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jankovic J,
Tan EK</span><br />
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
2020 Aug;91(8):795-808.
Epub 2020 Jun 23
doi: 10.1136/jnnp-2019-322338.
<span class="bold">PMID: </span><a href="/pubmed/32576618" target="_blank">32576618</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/30698671">Clinical Management of Congenital Hypogonadotropic Hypogonadism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Young J,
Xu C,
Papadakis GE,
Acierno JS,
Maione L,
Hietamäki J,
Raivio T,
Pitteloud N</span><br />
<span class="medgenPMjournal">Endocr Rev</span>
2019 Apr 1;40(2):669-710.
doi: 10.1210/er.2018-00116.
<span class="bold">PMID: </span><a href="/pubmed/30698671" target="_blank">30698671</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hypogonadotropic%20hypogonadism%202%20with%20or%20without%20anosmia)%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 (546)</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/39159641">Male hypogonadism: pathogenesis, diagnosis, and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Silva NL,
Papanikolaou N,
Grossmann M,
Antonio L,
Quinton R,
Anawalt BD,
Jayasena CN</span><br />
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
2024 Oct;12(10):761-774.
Epub 2024 Aug 16
doi: 10.1016/S2213-8587(24)00199-2.
<span class="bold">PMID: </span><a href="/pubmed/39159641" target="_blank">39159641</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38128110">Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alexander EC,
Faruqi D,
Farquhar R,
Unadkat A,
Ng Yin K,
Hoskyns R,
Varughese R,
Howard SR</span><br />
<span class="medgenPMjournal">Eur J Endocrinol</span>
2024 Jan 3;190(1):S1-S11.
doi: 10.1093/ejendo/lvad166.
<span class="bold">PMID: </span><a href="/pubmed/38128110" target="_blank">38128110</a><a href="/pmc/articles/PMC10773669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32859529">Olfactory disorder in patients infected with SARS-CoV-2.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yen YF,
Lai HH,
Chan SY,
Su VY,
Chiu TF,
Huang CY,
Hung CC,
Kuo TL,
Lee YL,
Chu D</span><br />
<span class="medgenPMjournal">J Microbiol Immunol Infect</span>
2021 Oct;54(5):992-996.
Epub 2020 Aug 20
doi: 10.1016/j.jmii.2020.08.010.
<span class="bold">PMID: </span><a href="/pubmed/32859529" target="_blank">32859529</a><a href="/pmc/articles/PMC7439082" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31577259">Syndromic infertility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Guerri G,
Maniscalchi T,
Barati S,
Dhuli K,
Busetto GM,
Del Giudice F,
De Berardinis E,
De Antoni L,
Miertus J,
Bertelli M</span><br />
<span class="medgenPMjournal">Acta Biomed</span>
2019 Sep 30;90(10-S):75-82.
doi: 10.23750/abm.v90i10-S.8764.
<span class="bold">PMID: </span><a href="/pubmed/31577259" target="_blank">31577259</a><a href="/pmc/articles/PMC7233644" 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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypogonadotropic%20hypogonadism%202%20with%20or%20without%20anosmia%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 (4332)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39159641">Male hypogonadism: pathogenesis, diagnosis, and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Silva NL,
Papanikolaou N,
Grossmann M,
Antonio L,
Quinton R,
Anawalt BD,
Jayasena CN</span><br />
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
2024 Oct;12(10):761-774.
Epub 2024 Aug 16
doi: 10.1016/S2213-8587(24)00199-2.
<span class="bold">PMID: </span><a href="/pubmed/39159641" target="_blank">39159641</a></div>
<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/31522908">Constitutional delay of puberty versus congenital hypogonadotropic hypogonadism: Genetics, management and updates.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Raivio T,
Miettinen PJ</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
2019 Jun;33(3):101316.
Epub 2019 Sep 5
doi: 10.1016/j.beem.2019.101316.
<span class="bold">PMID: </span><a href="/pubmed/31522908" target="_blank">31522908</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30698671">Clinical Management of Congenital Hypogonadotropic Hypogonadism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Young J,
Xu C,
Papadakis GE,
Acierno JS,
Maione L,
Hietamäki J,
Raivio T,
Pitteloud N</span><br />
<span class="medgenPMjournal">Endocr Rev</span>
2019 Apr 1;40(2):669-710.
doi: 10.1210/er.2018-00116.
<span class="bold">PMID: </span><a href="/pubmed/30698671" target="_blank">30698671</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23503957">Hypogonadotropic hypogonadism revisited.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fraietta R,
Zylberstejn DS,
Esteves SC</span><br />
<span class="medgenPMjournal">Clinics (Sao Paulo)</span>
2013;68 Suppl 1(Suppl 1):81-8.
doi: 10.6061/clinics/2013(sup01)09.
<span class="bold">PMID: </span><a href="/pubmed/23503957" target="_blank">23503957</a><a href="/pmc/articles/PMC3583156" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypogonadotropic%20hypogonadism%202%20with%20or%20without%20anosmia%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 (3651)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39159641">Male hypogonadism: pathogenesis, diagnosis, and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Silva NL,
Papanikolaou N,
Grossmann M,
Antonio L,
Quinton R,
Anawalt BD,
Jayasena CN</span><br />
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
2024 Oct;12(10):761-774.
Epub 2024 Aug 16
doi: 10.1016/S2213-8587(24)00199-2.
<span class="bold">PMID: </span><a href="/pubmed/39159641" target="_blank">39159641</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38231621">Testosterone Treatment and Fractures in Men with Hypogonadism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Snyder PJ,
Bauer DC,
Ellenberg SS,
Cauley JA,
Buhr KA,
Bhasin S,
Miller MG,
Khan NS,
Li X,
Nissen SE</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2024 Jan 18;390(3):203-211.
doi: 10.1056/NEJMoa2308836.
<span class="bold">PMID: </span><a href="/pubmed/38231621" target="_blank">38231621</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38128110">Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alexander EC,
Faruqi D,
Farquhar R,
Unadkat A,
Ng Yin K,
Hoskyns R,
Varughese R,
Howard SR</span><br />
<span class="medgenPMjournal">Eur J Endocrinol</span>
2024 Jan 3;190(1):S1-S11.
doi: 10.1093/ejendo/lvad166.
<span class="bold">PMID: </span><a href="/pubmed/38128110" target="_blank">38128110</a><a href="/pmc/articles/PMC10773669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35353710">Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nordenström A,
Ahmed SF,
van den Akker E,
Blair J,
Bonomi M,
Brachet C,
Broersen LHA,
Claahsen-van der Grinten HL,
Dessens AB,
Gawlik A,
Gravholt CH,
Juul A,
Krausz C,
Raivio T,
Smyth A,
Touraine P,
Vitali D,
Dekkers OM</span><br />
<span class="medgenPMjournal">Eur J Endocrinol</span>
2022 Apr 21;186(6):G9-G49.
doi: 10.1530/EJE-22-0073.
<span class="bold">PMID: </span><a href="/pubmed/35353710" target="_blank">35353710</a><a href="/pmc/articles/PMC9066594" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30698671">Clinical Management of Congenital Hypogonadotropic Hypogonadism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Young J,
Xu C,
Papadakis GE,
Acierno JS,
Maione L,
Hietamäki J,
Raivio T,
Pitteloud N</span><br />
<span class="medgenPMjournal">Endocr Rev</span>
2019 Apr 1;40(2):669-710.
doi: 10.1210/er.2018-00116.
<span class="bold">PMID: </span><a href="/pubmed/30698671" target="_blank">30698671</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypogonadotropic%20hypogonadism%202%20with%20or%20without%20anosmia%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 (2869)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37127825">Delayed Puberty.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mohanraj S,
Prasad HK</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
2023 Jun;90(6):590-597.
Epub 2023 May 2
doi: 10.1007/s12098-023-04577-x.
<span class="bold">PMID: </span><a href="/pubmed/37127825" target="_blank">37127825</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31216250">Long-Term Safety and Efficacy of Clomiphene Citrate for the Treatment of Hypogonadism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Krzastek SC,
Sharma D,
Abdullah N,
Sultan M,
Machen GL,
Wenzel JL,
Ells A,
Chen X,
Kavoussi M,
Costabile RA,
Smith RP,
Kavoussi PK</span><br />
<span class="medgenPMjournal">J Urol</span>
2019 Nov;202(5):1029-1035.
Epub 2019 Oct 9
doi: 10.1097/JU.0000000000000396.
<span class="bold">PMID: </span><a href="/pubmed/31216250" target="_blank">31216250</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28008864">Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Akkuş G,
Kotan LD,
Durmaz E,
Mengen E,
Turan İ,
Ulubay A,
Gürbüz F,
Yüksel B,
Tetiker T,
Topaloğlu AK</span><br />
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
2017 Jun 1;9(2):95-100.
Epub 2016 Dec 23
doi: 10.4274/jcrpe.3908.
<span class="bold">PMID: </span><a href="/pubmed/28008864" target="_blank">28008864</a><a href="/pmc/articles/PMC5463295" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25041142">Testosterone and mortality.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Muraleedharan V,
Jones TH</span><br />
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
2014 Oct;81(4):477-87.
Epub 2014 Jul 7
doi: 10.1111/cen.12503.
<span class="bold">PMID: </span><a href="/pubmed/25041142" target="_blank">25041142</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23643382">Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miraoui H,
Dwyer AA,
Sykiotis GP,
Plummer L,
Chung W,
Feng B,
Beenken A,
Clarke J,
Pers TH,
Dworzynski P,
Keefe K,
Niedziela M,
Raivio T,
Crowley WF Jr,
Seminara SB,
Quinton R,
Hughes VA,
Kumanov P,
Young J,
Yialamas MA,
Hall JE,
Van Vliet G,
Chanoine JP,
Rubenstein J,
Mohammadi M,
Tsai PS,
Sidis Y,
Lage K,
Pitteloud N</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2013 May 2;92(5):725-43.
doi: 10.1016/j.ajhg.2013.04.008.
<span class="bold">PMID: </span><a href="/pubmed/23643382" target="_blank">23643382</a><a href="/pmc/articles/PMC3644636" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypogonadotropic%20hypogonadism%202%20with%20or%20without%20anosmia%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 (1847)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37589949">Effect of Testosterone Replacement Therapy on Sexual Function and Hypogonadal Symptoms in Men with Hypogonadism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pencina KM,
Travison TG,
Cunningham GR,
Lincoff AM,
Nissen SE,
Khera M,
Miller MG,
Flevaris P,
Li X,
Wannemuehler K,
Bhasin S</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2024 Jan 18;109(2):569-580.
doi: 10.1210/clinem/dgad484.
<span class="bold">PMID: </span><a href="/pubmed/37589949" target="_blank">37589949</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37559411">Obesity-Related Hypogonadism in Women.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Eng PC,
Phylactou M,
Qayum A,
Woods C,
Lee H,
Aziz S,
Moore B,
Miras AD,
Comninos AN,
Tan T,
Franks S,
Dhillo WS,
Abbara A</span><br />
<span class="medgenPMjournal">Endocr Rev</span>
2024 Mar 4;45(2):171-189.
doi: 10.1210/endrev/bnad027.
<span class="bold">PMID: </span><a href="/pubmed/37559411" target="_blank">37559411</a><a href="/pmc/articles/PMC10911953" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36507615">Use of platelet-rich plasma for COVID-19-related olfactory loss: a randomized controlled trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yan CH,
Jang SS,
Lin HC,
Ma Y,
Khanwalkar AR,
Thai A,
Patel ZM</span><br />
<span class="medgenPMjournal">Int Forum Allergy Rhinol</span>
2023 Jun;13(6):989-997.
Epub 2022 Dec 21
doi: 10.1002/alr.23116.
<span class="bold">PMID: </span><a href="/pubmed/36507615" target="_blank">36507615</a><a href="/pmc/articles/PMC9877663" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36018454">Adult- and late-onset male hypogonadism: the clinical practice guidelines of the Italian Society of Andrology and Sexual Medicine (SIAMS) and the Italian Society of Endocrinology (SIE).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Isidori AM,
Aversa A,
Calogero A,
Ferlin A,
Francavilla S,
Lanfranco F,
Pivonello R,
Rochira V,
Corona G,
Maggi M</span><br />
<span class="medgenPMjournal">J Endocrinol Invest</span>
2022 Dec;45(12):2385-2403.
Epub 2022 Aug 26
doi: 10.1007/s40618-022-01859-7.
<span class="bold">PMID: </span><a href="/pubmed/36018454" target="_blank">36018454</a><a href="/pmc/articles/PMC9415259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29601923">Evaluation and Management of Testosterone Deficiency: AUA Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mulhall JP,
Trost LW,
Brannigan RE,
Kurtz EG,
Redmon JB,
Chiles KA,
Lightner DJ,
Miner MM,
Murad MH,
Nelson CJ,
Platz EA,
Ramanathan LV,
Lewis RW</span><br />
<span class="medgenPMjournal">J Urol</span>
2018 Aug;200(2):423-432.
Epub 2018 Mar 28
doi: 10.1016/j.juro.2018.03.115.
<span class="bold">PMID: </span><a href="/pubmed/29601923" target="_blank">29601923</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypogonadotropic%20hypogonadism%202%20with%20or%20without%20anosmia%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 (3124)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38128110">Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alexander EC,
Faruqi D,
Farquhar R,
Unadkat A,
Ng Yin K,
Hoskyns R,
Varughese R,
Howard SR</span><br />
<span class="medgenPMjournal">Eur J Endocrinol</span>
2024 Jan 3;190(1):S1-S11.
doi: 10.1093/ejendo/lvad166.
<span class="bold">PMID: </span><a href="/pubmed/38128110" target="_blank">38128110</a><a href="/pmc/articles/PMC10773669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37697053">Do "testosterone boosters" really increase serum total testosterone? A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morgado A,
Tsampoukas G,
Sokolakis I,
Schoentgen N,
Urkmez A,
Sarikaya S</span><br />
<span class="medgenPMjournal">Int J Impot Res</span>
2024 Jun;36(4):348-364.
Epub 2023 Sep 11
doi: 10.1038/s41443-023-00763-9.
<span class="bold">PMID: </span><a href="/pubmed/37697053" target="_blank">37697053</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36013514">Eurycoma longifolia (Jack) Improves Serum Total Testosterone in Men: A Systematic Review and Meta-Analysis of Clinical Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leisegang K,
Finelli R,
Sikka SC,
Panner Selvam MK</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2022 Aug 4;58(8)
doi: 10.3390/medicina58081047.
<span class="bold">PMID: </span><a href="/pubmed/36013514" target="_blank">36013514</a><a href="/pmc/articles/PMC9415500" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35739136">Long-COVID in children and adolescents: a systematic review and meta-analyses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lopez-Leon S,
Wegman-Ostrosky T,
Ayuzo Del Valle NC,
Perelman C,
Sepulveda R,
Rebolledo PA,
Cuapio A,
Villapol S</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2022 Jun 23;12(1):9950.
doi: 10.1038/s41598-022-13495-5.
<span class="bold">PMID: </span><a href="/pubmed/35739136" target="_blank">35739136</a><a href="/pmc/articles/PMC9226045" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34933414">Clomiphene citrate for men with hypogonadism: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huijben M,
Lock MTWT,
de Kemp VF,
de Kort LMO,
van Breda HMK</span><br />
<span class="medgenPMjournal">Andrology</span>
2022 Mar;10(3):451-469.
Epub 2022 Jan 8
doi: 10.1111/andr.13146.
<span class="bold">PMID: </span><a href="/pubmed/34933414" target="_blank">34933414</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypogonadotropic%20hypogonadism%202%20with%20or%20without%20anosmia%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 (207)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1563720%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (44)</a></li>
<li><a href="/gtr/tests?term=C1563720%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (53)</a></li>
<li><a href="/gtr/tests?term=C1563720%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (13)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1563720%5bDISCUI%5d" target="_blank">See all (59)</a></total></li>
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