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<meta name="keywords" content="C0162809, anosmia eunuchoidism, anosmic hypogonadism, anosmic hypogonadisms, anosmic idiopathic hypogonadotropic hypogonadism, congenital hypogonadotropic hypogonadism with anosmia, disease or syndrome, dysplasia olfactogenitalis of de morsier, dysplasia olfactogenitalis of de morsier (formerly), familial hypogonadism with anosmia, gonadotrophin deficiency with anosmia, hha, hypogonadism with anosmia, hypogonadism, anosmic, hypogonadisms, anosmic, hypogonadotropic hypogonadism and anosmia, hypogonadotropic hypogonadism with anosmia, hypogonadotropic hypogonadism-anosmia syndrome, kallman syndrome, kallman's syndrome, kallmann syndrome, kallmann's syndrome, kallmanns syndrome, ks, olfacto-genital pathological sequence, olfactogenital dysplasia, syndrome, kallmann, syndrome, kallmann's, 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., <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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<!--
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UID=102469
|
||
ConceptID=C0162809
|
||
-->
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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">Hypogonadism with anosmia<span class="h1sub">(KS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>102469</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.">C0162809</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>Anosmic hypogonadism; Anosmic idiopathic hypogonadotropic hypogonadism; Dysplasia olfactogenitalis of De Morsier (formerly); Hypogonadotropic hypogonadism-anosmia syndrome; Kallmann syndrome; KS</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hypogonadism with anosmia (93559003); Olfactogenital dysplasia (93559003); Anosmia eunuchoidism (93559003); Dysplasia olfactogenitalis of de Morsier (93559003); Kallman syndrome (93559003); Kallman's syndrome (93559003); Gonadotrophin deficiency with anosmia (93559003); Kallmann's syndrome (93559003)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_109109"><div><strong>Non-Mendelian inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>109109</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.">C0600599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Genetic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that depends on genetic determinants in more than one gene.</div></div>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_109109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-Mendelian inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/128674">PROKR2</a>, <a target="_blank" href="/gene/60675">PROK2</a>, <a target="_blank" href="/gene/55636">CHD7</a>, <a target="_blank" href="/gene/3730">ANOS1</a>, <a target="_blank" href="/gene/2260">FGFR1</a>, <a target="_blank" href="/gene/2253">FGF8</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018800" target="_blank">MONDO:0018800</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/308700" target="_blank">308700</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=478">ORPHA478</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_101">
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||
<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., <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 />
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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_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><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 />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.<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. <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_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>
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<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><li><a href="#tabORDO">Orphanet</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=C0162809[DISCUI]&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]&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&from_uid=102469" ref="ncbi_uid=102469">V</a></span></span><span class="TLline">Hypogonadism with anosmia</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]&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&from_uid=295872" ref="ncbi_uid=295872">V</a></span></span><span class="TLline"><a href="/medgen/295872" ref="tree=GTR&ncbi_uid=295872&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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1563720[DISCUI]&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&from_uid=289648" ref="ncbi_uid=289648">V</a></span></span><span class="TLline"><a href="/medgen/289648" ref="tree=GTR&ncbi_uid=289648&link_uid=289648" title="View MedGen record for 'Hypogonadotropic hypogonadism 2 with or without anosmia'">Hypogonadotropic hypogonadism 2 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=C3550478[DISCUI]&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&from_uid=763392" ref="ncbi_uid=763392">V</a></span></span><span class="TLline"><a href="/medgen/763392" ref="tree=GTR&ncbi_uid=763392&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]&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&from_uid=765257" ref="ncbi_uid=765257">V</a></span></span><span class="TLline"><a href="/medgen/765257" ref="tree=GTR&ncbi_uid=765257&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]&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&showtype=onebook" ref="ncbi_uid=765467">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=765467" ref="ncbi_uid=765467">V</a></span></span><span class="TLline"><a href="/medgen/765467" ref="tree=GTR&ncbi_uid=765467&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]&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&from_uid=765488" ref="ncbi_uid=765488">V</a></span></span><span class="TLline"><a href="/medgen/765488" ref="tree=GTR&ncbi_uid=765488&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/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><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="matched_ds">Hypogonadism with anosmia</span><ul><li><span class="TLline"><a href="/medgen/295872" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 1 with or without anosmia">Hypogonadotropic hypogonadism 1 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/289648" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 2 with or without anosmia">Hypogonadotropic hypogonadism 2 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/763392" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 3 with or without anosmia">Hypogonadotropic hypogonadism 3 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/765257" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 4 with or without anosmia">Hypogonadotropic hypogonadism 4 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/765467" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 5 with or without anosmia">Hypogonadotropic hypogonadism 5 with or without anosmia</a></span></li><li><span class="TLline"><a href="/medgen/765488" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism 6 with or without anosmia">Hypogonadotropic hypogonadism 6 with or without anosmia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=3249&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hypogonadism with anosmia</span> in Orphanet.</div></div></div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/29108899">Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stamou MI,
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Georgopoulos NA</span><br />
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<span class="medgenPMjournal">Metabolism</span>
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2018 Sep;86:124-134.
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Epub 2017 Nov 3
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doi: 10.1016/j.metabol.2017.10.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29108899" target="_blank">29108899</a><a href="/pmc/articles/PMC5934335" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypogonadism%20with%20anosmia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
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||
</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">
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||
<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>
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<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32074614">Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Barraud S,
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Delemer B,
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||
Poirsier-Violle C,
|
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Bouligand J,
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Mérol JC,
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Grange F,
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Higel-Chaufour B,
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Decoudier B,
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Zalzali M,
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Dwyer AA,
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Acierno JS,
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Pitteloud N,
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Millar RP,
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Young J</span><br />
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<span class="medgenPMjournal">Neuroendocrinology</span>
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2021;111(1-2):99-114.
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Epub 2020 Feb 20
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||
doi: 10.1159/000506640.
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||
<span class="bold">PMID: </span><a href="/pubmed/32074614" target="_blank">32074614</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypogonadism%20with%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32074614">Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Barraud S,
|
||
Delemer B,
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||
Poirsier-Violle C,
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Bouligand J,
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||
Mérol JC,
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Grange F,
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Higel-Chaufour B,
|
||
Decoudier B,
|
||
Zalzali M,
|
||
Dwyer AA,
|
||
Acierno JS,
|
||
Pitteloud N,
|
||
Millar RP,
|
||
Young J</span><br />
|
||
<span class="medgenPMjournal">Neuroendocrinology</span>
|
||
2021;111(1-2):99-114.
|
||
Epub 2020 Feb 20
|
||
doi: 10.1159/000506640.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32074614" target="_blank">32074614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32908489">Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu X,
|
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Lin Y,
|
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Wu H</span><br />
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<span class="medgenPMjournal">Neural Plast</span>
|
||
2020;2020:8860837.
|
||
Epub 2020 Aug 28
|
||
doi: 10.1155/2020/8860837.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32908489" target="_blank">32908489</a><a href="/pmc/articles/PMC7474784" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29108899">Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Stamou MI,
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Georgopoulos NA</span><br />
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2018 Sep;86:124-134.
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doi: 10.1016/j.metabol.2017.10.012.
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<span class="bold">PMID: </span><a href="/pubmed/29108899" target="_blank">29108899</a><a href="/pmc/articles/PMC5934335" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7361844">Cardiac abnormalities in female hypogonadotropic hypogonadism with anosmia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kemmann E,
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Conrad P,
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Jones JR</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/7361844" target="_blank">7361844</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/4540668">Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome. A disorder of olfactory and hypothalamic function.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Males JL,
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Townsend JL,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypogonadism%20with%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 (7)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/385362">Effect of D-leucine-6-luteinizing hormone-releasing hormone ethylamide in patients with hypogonadotropic hypogonadism with anosmia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Guitelman A,
|
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Mancini AM,
|
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Aparicio NJ,
|
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Tropea L,
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Levalle O,
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Schally AV</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/385362" target="_blank">385362</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/335879">Father-to-son transmission of hypogonadism with anosmia: Kallmann's syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Merriam GR,
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Beitins IZ,
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<span class="bold">PMID: </span><a href="/pubmed/335879" target="_blank">335879</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/5453324">Hypogonadotropic hypogonadism with anosmia (Kallmann's syndrome) unresponsive to clomiphene citrate.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Schroffner WG,
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Furth ED</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypogonadism%20with%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32074614">Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Barraud S,
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Delemer B,
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Poirsier-Violle C,
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Bouligand J,
|
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Mérol JC,
|
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Grange F,
|
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Higel-Chaufour B,
|
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Decoudier B,
|
||
Zalzali M,
|
||
Dwyer AA,
|
||
Acierno JS,
|
||
Pitteloud N,
|
||
Millar RP,
|
||
Young J</span><br />
|
||
<span class="medgenPMjournal">Neuroendocrinology</span>
|
||
2021;111(1-2):99-114.
|
||
Epub 2020 Feb 20
|
||
doi: 10.1159/000506640.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32074614" target="_blank">32074614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32400067">Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q,
|
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He HH,
|
||
Janjua MU,
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Wang F,
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Yang YB,
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Mo ZH,
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Liu J,
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Jin P</span><br />
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<span class="medgenPMjournal">Andrologia</span>
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2020 Aug;52(7):e13594.
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Epub 2020 May 12
|
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doi: 10.1111/and.13594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32400067" target="_blank">32400067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9915559">Origin and migration of luteinizing hormone-releasing hormone neurons in mammals.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schwanzel-Fukuda M</span><br />
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||
<span class="bold">PMID: </span><a href="/pubmed/9915559" target="_blank">9915559</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypogonadism%20with%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32074614">Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barraud S,
|
||
Delemer B,
|
||
Poirsier-Violle C,
|
||
Bouligand J,
|
||
Mérol JC,
|
||
Grange F,
|
||
Higel-Chaufour B,
|
||
Decoudier B,
|
||
Zalzali M,
|
||
Dwyer AA,
|
||
Acierno JS,
|
||
Pitteloud N,
|
||
Millar RP,
|
||
Young J</span><br />
|
||
<span class="medgenPMjournal">Neuroendocrinology</span>
|
||
2021;111(1-2):99-114.
|
||
Epub 2020 Feb 20
|
||
doi: 10.1159/000506640.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32074614" target="_blank">32074614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32400067">Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q,
|
||
He HH,
|
||
Janjua MU,
|
||
Wang F,
|
||
Yang YB,
|
||
Mo ZH,
|
||
Liu J,
|
||
Jin P</span><br />
|
||
<span class="medgenPMjournal">Andrologia</span>
|
||
2020 Aug;52(7):e13594.
|
||
Epub 2020 May 12
|
||
doi: 10.1111/and.13594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32400067" target="_blank">32400067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9713559">Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maya-Núñez G,
|
||
Cuevas-Covarrubias S,
|
||
Zenteno JC,
|
||
Ulloa-Aguirre A,
|
||
Kofman-Alfaro S,
|
||
Méndez JP</span><br />
|
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<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
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1998 Jun;48(6):713-8.
|
||
doi: 10.1046/j.1365-2265.1998.00406.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9713559" target="_blank">9713559</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/385362">Effect of D-leucine-6-luteinizing hormone-releasing hormone ethylamide in patients with hypogonadotropic hypogonadism with anosmia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guitelman A,
|
||
Mancini AM,
|
||
Aparicio NJ,
|
||
Tropea L,
|
||
Levalle O,
|
||
Schally AV</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
1979 Sep;32(3):308-11.
|
||
doi: 10.1016/s0015-0282(16)44239-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/385362" target="_blank">385362</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypogonadism%20with%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 (4)</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>
|
||
|
||
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|
||
<div class="rightCol mgCol">
|
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<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>
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|
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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=C0162809%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0162809%5bDISCUI%5d&filter=method%3A3%5F24" target="_blank">FISH-metaphase (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0162809%5bDISCUI%5d&test_type=Research" target="_blank">Research (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0162809%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0162809%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0162809%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
|
||
</ul></div>
|
||
</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="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=478" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hypogonadism%20with%20anosmia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</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=(%22hypogonadism%20with%20anosmia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<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>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hypogonadism%20with%20anosmia" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/kallmann-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10771/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
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<li>
|
||
<a href="/pubmed/20301509" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
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<li>
|
||
<a href="/pubmed/clinical?term=Hypogonadism%20with%20anosmia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=102469" ref="log$=recordlinks">MeSH</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d46c192f30673f7b2eb85d">Hypogonadism with anosmia</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d46b5667c23b31e0e8ed79">Table B. [OMIM Entries for Isolated Gonadotropin-Releasing Hormone (GnRH) Defici...</a>
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<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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<div class="ralinkpop offscreen_noflow">RecName: Full=WD repeat-containing protein 11; AltName: Full=Bromodomain and WD repeat-containing protein 2; AltName: Full=WD repeat-containing protein 15<div class="brieflinkpopdesc">gi|17368715|sp|Q9BZH6.1|WDR11_HUMAN</div></div>
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<div class="tertiary">Protein</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d46b332f30673f7b2a5fc8">Intellectual developmental disorder, autosomal recessive 78</a>
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