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<meta name="keywords" content="46,xy disorder of sex development due to lhb deficiency, 46,xy disorder of sex development due to luteinizing hormone subunit beta deficiency, 46,xy dsd due to lhb deficiency, 46,xy dsd due to luteinizing hormone subunit beta deficiency, C0271582, disease or syndrome, eunuchoidism with spermatogenesis, normal fsh and low or normal interstitial cell-stimulating hormone (icsh), fertile eunuch, fertile eunuch syndrome, hh23, hypogonadotropic hypogonadism 23 with or without anosmia, hypogonadotropic hypogonadism 23 without anosmia, hypogonadotropic hypogonadism caused by mutation in lhb, isolated lutropin deficiency, leydig cell hypoplasia due to lhb deficiency, leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency, lhb, lhb hypogonadotropic hypogonadism, pasqualini syndrome, 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="Male patients with hypogonadotropic hypogonadism due to isolated luteinizing hormone (LH) deficiency have normal sexual differentiation but fail to develop spontaneous puberty. Absence of LH alters Leydig cell proliferation and maturation and impairs the onset of normal spermatogenesis, which requires high levels of intratesticular testosterone. Infertility and very low levels of spermatogenesis generally persist in affected men despite long-term exposure to gonadotropin therapy. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea (summary by Basciani et al., 2012). 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).' For a general phenotypic description and discussion of genetic heterogeneity of hypogonadotropic hypogonadism, see 147950. Reviews Arnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to mutations in LHB are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor (see 238320): 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 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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=82881
|
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ConceptID=C0271582
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Isolated lutropin deficiency<span class="h1sub">(HH23)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82881</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) Click for more information."><span class="highlight" style="background-color:">C0271582</span></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>FERTILE EUNUCH SYNDROME; HH23; Hypogonadotropic hypogonadism 23 with or without anosmia; HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; PASQUALINI SYNDROME</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Isolated lutropin deficiency (8829008); Fertile eunuch syndrome (8829008); Fertile eunuch (8829008)</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="LHB - ID: 3972 - NCBI Gene" href="/gene/3972" class="medgenPMinfo">LHB</a> (19q13.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009223" target="_blank">MONDO:0009223</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/228300" target="_blank">228300</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=325448">ORPHA325448</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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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>
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||
<div class="portlet_content ln">Male patients with hypogonadotropic hypogonadism due to isolated luteinizing hormone (LH) deficiency have normal sexual differentiation but fail to develop spontaneous puberty. Absence of LH alters Leydig cell proliferation and maturation and impairs the onset of normal spermatogenesis, which requires high levels of intratesticular testosterone. Infertility and very low levels of spermatogenesis generally persist in affected men despite long-term exposure to gonadotropin therapy. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea (summary by Basciani et al., 2012). 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).' For a general phenotypic description and discussion of genetic heterogeneity of hypogonadotropic hypogonadism, see 147950. Reviews Arnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to mutations in LHB are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor (see 238320): 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 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. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<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_2150"><div><strong>Azoospermia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2150</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) Click for more information.">C0004509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2150">Feature record</a> | <a href="/medgen?term=%22Azoospermia%22%5BClinical%20Features%5D%20OR%202150%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18159"><div><strong>Oligomenorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18159</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) Click for more information.">C0028949</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infrequent menses (less than 6 per year or more than 35 days between cycles).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18159">Feature record</a> | <a href="/medgen?term=%22Oligomenorrhea%22%5BClinical%20Features%5D%20OR%2018159%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14540"><div><strong>Ovarian cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14540</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) Click for more information.">C0029927</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of one or more cysts of the ovary.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14540">Feature record</a> | <a href="/medgen?term=%22Ovarian%20cyst%22%5BClinical%20Features%5D%20OR%2014540%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115919"><div><strong>Secondary amenorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115919</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) Click for more information.">C0232940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115919">Feature record</a> | <a href="/medgen?term=%22Secondary%20amenorrhea%22%5BClinical%20Features%5D%20OR%20115919%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488909"><div><strong>Abnormal spermatogenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488909</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) Click for more information.">C0520933</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Incomplete maturation or aberrant formation of the male gametes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488909">Feature record</a> | <a href="/medgen?term=%22Abnormal%20spermatogenesis%22%5BClinical%20Features%5D%20OR%20488909%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355854"><div><strong>Testicular microlithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355854</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) Click for more information.">C1864873</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Testicular microlithiasis, the deposition of calcium phosphate microliths within the seminiferous tubules, has a population prevalence of 0.6 to 9% (Kim et al., 2003). Middleton et al. (2002) found that it was associated with a majority of primary testicular malignancies. Miller and Sidhu (2002) found that it was present in 1% of male idiopathic infertility cases.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355854">Feature record</a> | <a href="/medgen?term=%22Testicular%20microlithiasis%22%5BClinical%20Features%5D%20OR%20355854%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_869277"><div><strong>Abnormality of the Leydig cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869277</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) Click for more information.">C4023703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/869277">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20Leydig%20cells%22%5BClinical%20Features%5D%20OR%20869277%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) 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_867293"><div><strong>Abnormality of the sense of smell</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867293</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) Click for more information.">C4021655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomaly in the ability to perceive and distinguish scents (odors).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867293">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20sense%20of%20smell%22%5BClinical%20Features%5D%20OR%20867293%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_388095"><div><strong>Sparse pubic hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388095</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) Click for more information.">C1858573</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced number or density of pubic hair.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388095">Feature record</a> | <a href="/medgen?term=%22Sparse%20pubic%20hair%22%5BClinical%20Features%5D%20OR%20388095%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_348975"><div><strong>Sparse axillary hair</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348975</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) Click for more information.">C1858574</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced number or density of axillary hair.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348975">Feature record</a> | <a href="/medgen?term=%22Sparse%20axillary%20hair%22%5BClinical%20Features%5D%20OR%20348975%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) 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_57480"><div><strong>Male hypogonadism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57480</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) Click for more information.">C0151721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57480">Feature record</a> | <a href="/medgen?term=%22Male%20hypogonadism%22%5BClinical%20Features%5D%20OR%2057480%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) 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_488853"><div><strong>Androgen insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488853</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) Click for more information.">C0342527</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Insufficient amount of androgenic activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488853">Feature record</a> | <a href="/medgen?term=%22Androgen%20insufficiency%22%5BClinical%20Features%5D%20OR%20488853%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867192"><div><strong>Elevated circulating follicle stimulating hormone level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867192</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) Click for more information.">C4021550</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevated concentration of follicle-stimulating hormone in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867192">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20follicle%20stimulating%20hormone%20level%22%5BClinical%20Features%5D%20OR%20867192%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_893008"><div><strong>Decreased circulating luteinizing hormone level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>893008</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) Click for more information.">C4072890</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the circulating level of luteinizing hormone (LH).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/893008">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20luteinizing%20hormone%20level%22%5BClinical%20Features%5D%20OR%20893008%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892974"><div><strong>Decreased serum testosterone concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892974</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) Click for more information.">C4073137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892974">Feature record</a> | <a href="/medgen?term=%22Decreased%20serum%20testosterone%20concentration%22%5BClinical%20Features%5D%20OR%20892974%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1784952"><div><strong>Decreased circulating dihydrotestosterone concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784952</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) Click for more information.">C5539826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced concentration of dihydrotestosterone in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1784952">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20dihydrotestosterone%20concentration%22%5BClinical%20Features%5D%20OR%201784952%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) 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="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><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 endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Androgen insufficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1784952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating dihydrotestosterone concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_893008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating luteinizing hormone level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased serum testosterone concentration</a></span></li><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_867192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating follicle stimulating hormone level</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Male hypogonadism</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_488909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal spermatogenesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_869277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the Leydig cells</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Azoospermia</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_18159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oligomenorrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian cyst</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secondary amenorrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355854" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Testicular microlithiasis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_348975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse axillary hair</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_388095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse pubic hair</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_867293" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the sense of smell</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0271582[DISCUI]&test_type=Clinical" ref="ncbi_uid=82881">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82881" target="_blank" href="/omim/152780">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82881" ref="ncbi_uid=82881">V</a></span></span><span class="TLline">Isolated lutropin deficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842338" ref="tree=MeSH" title="MedGen record for 46,XY disorder of sex development due to impaired androgen production">46,XY disorder of sex development due to impaired androgen production</a></span><ul><li><span class="TLline"><a href="/medgen/449533" ref="tree=MeSH" title="MedGen record for Leydig cell hypoplasia">Leydig cell hypoplasia</a></span><ul><li><span class="matched_ds">Isolated lutropin deficiency</span></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/38538470">Diagnosis and management of congenital hypopituitarism in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castets S,
|
||
Thomas-Teinturier C,
|
||
Villanueva C,
|
||
Amsellem J,
|
||
Barat P,
|
||
Brun G,
|
||
Quoc EB,
|
||
Carel JC,
|
||
De Filippo GP,
|
||
Kipnis C,
|
||
Martinerie L,
|
||
Vergier J,
|
||
Saveanu A,
|
||
Teissier N,
|
||
Coutant R,
|
||
Léger J,
|
||
Reynaud R</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2024 Apr;31(3):165-171.
|
||
Epub 2024 Mar 27
|
||
doi: 10.1016/j.arcped.2024.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38538470" target="_blank">38538470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20363464">Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bry-Gauillard H,
|
||
Trabado S,
|
||
Bouligand J,
|
||
Sarfati J,
|
||
Francou B,
|
||
Salenave S,
|
||
Chanson P,
|
||
Brailly-Tabard S,
|
||
Guiochon-Mantel A,
|
||
Young J</span><br />
|
||
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2010 May;71(3):158-62.
|
||
Epub 2010 Apr 3
|
||
doi: 10.1016/j.ando.2010.02.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20363464" target="_blank">20363464</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/330373">Treatment of isolated gonadotrophin deficiency in men with a more potent analogue of LH-RH.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tharandt L,
|
||
Schulte H,
|
||
Benker G,
|
||
Hackenberg K,
|
||
Reinwein D</span><br />
|
||
<span class="medgenPMjournal">Horm Metab Res</span>
|
||
1977 Jul;9(4):342-3.
|
||
doi: 10.1055/s-0028-1095568.
|
||
<span class="bold">PMID: </span><a href="/pubmed/330373" target="_blank">330373</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(isolated%20lutropin%20deficiency)%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 (12)</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/32661947">Addressing male sexual and reproductive health in the wake of COVID-19 outbreak.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sansone A,
|
||
Mollaioli D,
|
||
Ciocca G,
|
||
Limoncin E,
|
||
Colonnello E,
|
||
Vena W,
|
||
Jannini EA</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2021 Feb;44(2):223-231.
|
||
Epub 2020 Jul 13
|
||
doi: 10.1007/s40618-020-01350-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32661947" target="_blank">32661947</a><a href="/pmc/articles/PMC7355084" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22138902">New understandings of the genetic basis of isolated idiopathic central hypogonadism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonomi M,
|
||
Libri DV,
|
||
Guizzardi F,
|
||
Guarducci E,
|
||
Maiolo E,
|
||
Pignatti E,
|
||
Asci R,
|
||
Persani L;
|
||
Idiopathic Central Hypogonadism Study Group of the Italian Societies of Endocrinology and Pediatric Endocrinology and Diabetes</span><br />
|
||
<span class="medgenPMjournal">Asian J Androl</span>
|
||
2012 Jan;14(1):49-56.
|
||
Epub 2011 Dec 5
|
||
doi: 10.1038/aja.2011.68.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22138902" target="_blank">22138902</a><a href="/pmc/articles/PMC3735150" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11148528">Growth hormone deficiency caused by pituitary stalk interruption in Fanconi's anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dupuis-Girod S,
|
||
Gluckman E,
|
||
Souberbielle JC,
|
||
Brauner R</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2001 Jan;138(1):129-33.
|
||
doi: 10.1067/mpd.2001.109200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11148528" target="_blank">11148528</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7982772">Clinical and laboratory evaluation of 40 patients with Sheehan's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozbey N,
|
||
Inanc S,
|
||
Aral F,
|
||
Azezli A,
|
||
Orhan Y,
|
||
Sencer E,
|
||
Molvalilar S</span><br />
|
||
<span class="medgenPMjournal">Isr J Med Sci</span>
|
||
1994 Nov;30(11):826-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7982772" target="_blank">7982772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2889818">Isolated gonadotropin deficiency in boys: clinical characteristics and growth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Dop C,
|
||
Burstein S,
|
||
Conte FA,
|
||
Grumbach MM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1987 Nov;111(5):684-92.
|
||
doi: 10.1016/s0022-3476(87)80243-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2889818" target="_blank">2889818</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20lutropin%20deficiency%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 (48)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38538470">Diagnosis and management of congenital hypopituitarism in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castets S,
|
||
Thomas-Teinturier C,
|
||
Villanueva C,
|
||
Amsellem J,
|
||
Barat P,
|
||
Brun G,
|
||
Quoc EB,
|
||
Carel JC,
|
||
De Filippo GP,
|
||
Kipnis C,
|
||
Martinerie L,
|
||
Vergier J,
|
||
Saveanu A,
|
||
Teissier N,
|
||
Coutant R,
|
||
Léger J,
|
||
Reynaud R</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2024 Apr;31(3):165-171.
|
||
Epub 2024 Mar 27
|
||
doi: 10.1016/j.arcped.2024.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38538470" target="_blank">38538470</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9922906">Hypogonadotropic hypogonadism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayes FJ,
|
||
Seminara SB,
|
||
Crowley WF Jr</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
1998 Dec;27(4):739-63, vii.
|
||
doi: 10.1016/s0889-8529(05)70039-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9922906" target="_blank">9922906</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2889818">Isolated gonadotropin deficiency in boys: clinical characteristics and growth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Dop C,
|
||
Burstein S,
|
||
Conte FA,
|
||
Grumbach MM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1987 Nov;111(5):684-92.
|
||
doi: 10.1016/s0022-3476(87)80243-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2889818" target="_blank">2889818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1104523">Isolated gonadotropin deficiency and related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rabinowitz D,
|
||
Spitz IM</span><br />
|
||
<span class="medgenPMjournal">Isr J Med Sci</span>
|
||
1975 Oct;11(10):1011-78.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1104523" target="_blank">1104523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4288285">Isolated deficiencies of anterior pituitary hormones. Symptoms and diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Odell WD</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1966 Sep 19;197(12):1006-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4288285" target="_blank">4288285</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20lutropin%20deficiency%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 (72)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27697201">Clinical Applications of Gonadotropins in the Male.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulloa-Aguirre A,
|
||
Lira-Albarrán S</span><br />
|
||
<span class="medgenPMjournal">Prog Mol Biol Transl Sci</span>
|
||
2016;143:121-174.
|
||
Epub 2016 Sep 13
|
||
doi: 10.1016/bs.pmbts.2016.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27697201" target="_blank">27697201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20970114">Isolated FSH deficiency revealing a granulosa cell tumor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Decoudier B,
|
||
Hécart AC,
|
||
Hoeffel C,
|
||
Graesslin O,
|
||
Joseph K,
|
||
Amiot-Chapoutot F,
|
||
Delemer B</span><br />
|
||
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2010 Dec;71(6):543-7.
|
||
Epub 2010 Oct 20
|
||
doi: 10.1016/j.ando.2010.08.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20970114" target="_blank">20970114</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19126631">Testicular effects of isolated luteinizing hormone deficiency and reversal by long-term human chorionic gonadotropin treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valdes-Socin H,
|
||
Salvi R,
|
||
Thiry A,
|
||
Daly AF,
|
||
Pralong FP,
|
||
Gaillard R,
|
||
Beckers A</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2009 Jan;94(1):3-4.
|
||
doi: 10.1210/jc.2008-1584.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19126631" target="_blank">19126631</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4586101">Isolated gonadotropin deficiency. A heterogenous syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spitz IM,
|
||
Diamant Y,
|
||
Rosen E,
|
||
Bell J,
|
||
David MB,
|
||
Polishuk W,
|
||
Rabinowitz D</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1974 Jan 3;290(1):10-5.
|
||
doi: 10.1056/NEJM197401032900103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4586101" target="_blank">4586101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4344039">Isolated deficiency of follicle-stimulating hormone. Clinical and laboratory features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rabin D,
|
||
Spitz I,
|
||
Bercovici B,
|
||
Bell J,
|
||
Laufer A,
|
||
Benveniste R,
|
||
Polishuk W</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1972 Dec 28;287(26):1313-7.
|
||
doi: 10.1056/NEJM197212282872602.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4344039" target="_blank">4344039</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20lutropin%20deficiency%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 (81)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28324034">Anti-Müllerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bry-Gauillard H,
|
||
Larrat-Ledoux F,
|
||
Levaillant JM,
|
||
Massin N,
|
||
Maione L,
|
||
Beau I,
|
||
Binart N,
|
||
Chanson P,
|
||
Brailly-Tabard S,
|
||
Hall JE,
|
||
Young J</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2017 Apr 1;102(4):1102-1111.
|
||
doi: 10.1210/jc.2016-3799.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28324034" target="_blank">28324034</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28032184">Unique effects of energy versus estrogen deficiency on multiple components of bone strength in exercising women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Southmayd EA,
|
||
Mallinson RJ,
|
||
Williams NI,
|
||
Mallinson DJ,
|
||
De Souza MJ</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2017 Apr;28(4):1365-1376.
|
||
Epub 2016 Dec 28
|
||
doi: 10.1007/s00198-016-3887-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28032184" target="_blank">28032184</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7507839">Purification and characterization of the acid-labile subunit of rat serum insulin-like growth factor binding protein complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baxter RC,
|
||
Dai J</span><br />
|
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<span class="medgenPMjournal">Endocrinology</span>
|
||
1994 Feb;134(2):848-52.
|
||
doi: 10.1210/endo.134.2.7507839.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7507839" target="_blank">7507839</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8515913">Predicting recurring miscarriage: what is important?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quenby SM,
|
||
Farquharson RG</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
1993 Jul;82(1):132-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8515913" target="_blank">8515913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1092710">Isolated deficiency of follicle-stimulating hormone: Further studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bell J,
|
||
Benveniste R,
|
||
Spitz I,
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Rabinowitz D</span><br />
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||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
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||
1975 May;40(5):790-4.
|
||
doi: 10.1210/jcem-40-5-790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1092710" target="_blank">1092710</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20lutropin%20deficiency%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 (25)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28032184">Unique effects of energy versus estrogen deficiency on multiple components of bone strength in exercising women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Southmayd EA,
|
||
Mallinson RJ,
|
||
Williams NI,
|
||
Mallinson DJ,
|
||
De Souza MJ</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2017 Apr;28(4):1365-1376.
|
||
Epub 2016 Dec 28
|
||
doi: 10.1007/s00198-016-3887-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28032184" target="_blank">28032184</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22138902">New understandings of the genetic basis of isolated idiopathic central hypogonadism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonomi M,
|
||
Libri DV,
|
||
Guizzardi F,
|
||
Guarducci E,
|
||
Maiolo E,
|
||
Pignatti E,
|
||
Asci R,
|
||
Persani L;
|
||
Idiopathic Central Hypogonadism Study Group of the Italian Societies of Endocrinology and Pediatric Endocrinology and Diabetes</span><br />
|
||
<span class="medgenPMjournal">Asian J Androl</span>
|
||
2012 Jan;14(1):49-56.
|
||
Epub 2011 Dec 5
|
||
doi: 10.1038/aja.2011.68.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22138902" target="_blank">22138902</a><a href="/pmc/articles/PMC3735150" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7507839">Purification and characterization of the acid-labile subunit of rat serum insulin-like growth factor binding protein complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baxter RC,
|
||
Dai J</span><br />
|
||
<span class="medgenPMjournal">Endocrinology</span>
|
||
1994 Feb;134(2):848-52.
|
||
doi: 10.1210/endo.134.2.7507839.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7507839" target="_blank">7507839</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8515913">Predicting recurring miscarriage: what is important?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quenby SM,
|
||
Farquharson RG</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
1993 Jul;82(1):132-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8515913" target="_blank">8515913</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/412859">Dissociation of prolactin responsiveness to TRH and chlorpromazine in women with isolated gonadotropin deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spitz IM,
|
||
Almaliach U,
|
||
Rosen E,
|
||
Polishuk W,
|
||
Rabinowitz D</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
1977 Dec;45(6):1173-8.
|
||
doi: 10.1210/jcem-45-6-1173.
|
||
<span class="bold">PMID: </span><a href="/pubmed/412859" target="_blank">412859</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20lutropin%20deficiency%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 (50)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
|
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|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0271582%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C0271582%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0271582%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C0271582%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0271582%5bDISCUI%5d" target="_blank">See all (20)</a></total></li>
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||
</ul></div>
|
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|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=228300" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=325448" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Isolated%20lutropin%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></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=(isolated%20lutropin%20deficiency)%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></ul></div>
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|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=152780" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3972[geneid]" target="_blank">View LHB variations in ClinVar</a></li><li><a href="/nuccore/224809258" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=228300" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Isolated+lutropin+deficiency/8686" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hypogonadotropic_hypogonadism_23_with_or_without_anosmia" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Isolated%20lutropin%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10127/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
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<div class="portlet brieflink">
|
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<h3>Reviews</h3>
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<ul>
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<li>
|
||
<a href="/pubmed/clinical?term=Isolated%20lutropin%20deficiency" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Isolated%20lutropin%20deficiency%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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||
<div class="portlet_head">
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<h3>Related information</h3>
|
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|
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||
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=82881" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=82881" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0271582[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0271582[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=82881" ref="log$=recordlinks">MeSH</a>
|
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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||
</li>
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||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=82881" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=82881" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=82881" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=82881" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=82881" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
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||
</div>
|
||
</div>
|
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|
||
|
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<div class="portlet">
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<div class="portlet_head">
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