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<meta name="keywords" content="3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency, 46,xy dsd due to 5-alpha-reductase 2 deficiency, 5 alpha steroid reductase 2 deficiency, 5-alpha reductase deficiency, C0268297, disease or syndrome, familial incomplete male pseudohermaphroditism type 2, familial incomplete male pseudohermaphroditism, type 2, male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency, male pseudohermaphroditism due to 5-alpha-reductase deficiency, micropenis, ppsh, ppsh - pseudovaginal perineoscrotal hypospadias, pseudovaginal perineoscrotal hypospadias, srd5a2, steroid 5-alpha-reductase 2 deficiency, steroid 5-alpha-reductase deficiency, 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="Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=75667
|
||
ConceptID=C0268297
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency<span class="h1sub">(PPSH)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75667</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:">C0268297</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>46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2; MALE PSEUDOHERMAPHRODITISM DUE TO 5-ALPHA-REDUCTASE DEFICIENCY; PPSH; PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; Steroid 5-Alpha-Reductase Deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Familial incomplete male pseudohermaphroditism type 2 (738771004); Pseudovaginal perineoscrotal hypospadias (738771004); Male pseudohermaphroditism due to 5-alpha-reductase deficiency (738771004); PPSH - Pseudovaginal perineoscrotal hypospadias (738771004)</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="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></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="SRD5A2 - ID: 6716 - NCBI Gene" href="/gene/6716" class="medgenPMinfo">SRD5A2</a> (2p23.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009923" target="_blank">MONDO:0009923</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/264600" target="_blank">264600</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=753">ORPHA753</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">Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_117">
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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>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />5-alpha reductase deficiency is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). DHT has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.<br /><br />Many people with 5-alpha reductase deficiency are assigned female at birth based on their external genitalia. In other cases, affected infants are assigned male at birth based on their external genitalia, often an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias). Still other affected infants may be assigned either female or male at birth as their external genitalia do not look clearly male or clearly female. <br /><br />During puberty, an increase in the levels of male sex hormones leads to the development of some secondary sex characteristics, such as increased muscle mass, deepening of the voice, development of pubic hair, and a growth spurt. The penis and scrotum (the sac of skin that holds the testes) may grow larger. People with 5-alpha reductase deficiency do not develop much facial or body hair. Most affected individuals are unable to have biological children (infertile) without assisted reproduction.<br /><br /> <a target="_blank" href="https://medlineplus.gov/genetics/condition/5-alpha-reductase-deficiency">https://medlineplus.gov/genetics/condition/5-alpha-reductase-deficiency</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_90968"><div><strong>Bifid scrotum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90968</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.">C0341787</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Midline indentation or cleft of the scrotum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90968">Feature record</a> | <a href="/medgen?term=%22Bifid%20scrotum%22%5BClinical%20Features%5D%20OR%2090968%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105292"><div><strong>Perineal hypospadias</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105292</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.">C0452148</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypospadias with location of the urethral meatus in the perineal region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105292">Feature record</a> | <a href="/medgen?term=%22Perineal%20hypospadias%22%5BClinical%20Features%5D%20OR%20105292%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867446"><div><strong>Ambiguous genitalia, male</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867446</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.">C4021823</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ambiguous genitalia in an individual with XY genetic gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867446">Feature record</a> | <a href="/medgen?term=%22Ambiguous%20genitalia%2C%20male%22%5BClinical%20Features%5D%20OR%20867446%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_867398"><div><strong>Abnormality of metabolism/homeostasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867398</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.">C4021768</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867398">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20metabolism%2Fhomeostasis%22%5BClinical%20Features%5D%20OR%20867398%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867406"><div><strong>Abnormality of the voice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867406</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.">C4021776</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867406">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20voice%22%5BClinical%20Features%5D%20OR%20867406%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56381"><div><strong>Abnormal hair morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56381</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.">C0157733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the hair.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56381">Feature record</a> | <a href="/medgen?term=%22Abnormal%20hair%20morphology%22%5BClinical%20Features%5D%20OR%2056381%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_893021"><div><strong>Abnormality of the endocrine system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>893021</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.">C4025823</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the endocrine system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/893021">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20endocrine%20system%22%5BClinical%20Features%5D%20OR%20893021%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 metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867398" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of metabolism/homeostasis</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_893021" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the endocrine system</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_867446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ambiguous genitalia, male</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid scrotum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1633603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micropenis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perineal hypospadias</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_56381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal hair morphology</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the voice</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><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=C0268297[DISCUI]&test_type=Clinical" ref="ncbi_uid=75667">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75667" target="_blank" href="/omim/264600">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=75667" ref="ncbi_uid=75667">V</a></span></span><span class="TLline">3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1841552" ref="tree=MeSH" title="MedGen record for 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue">46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue</a></span><ul><li><span class="matched_ds">3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency</span></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=324&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency</span> in Orphanet.</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/29858846">5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avendaño A,
|
||
Paradisi I,
|
||
Cammarata-Scalisi F,
|
||
Callea M</span><br />
|
||
<span class="medgenPMjournal">Hormones (Athens)</span>
|
||
2018 Jun;17(2):197-204.
|
||
Epub 2018 Apr 20
|
||
doi: 10.1007/s42000-018-0013-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29858846" target="_blank">29858846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15692478">Evaluation and treatment of male and female pattern hair loss.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olsen EA,
|
||
Messenger AG,
|
||
Shapiro J,
|
||
Bergfeld WF,
|
||
Hordinsky MK,
|
||
Roberts JL,
|
||
Stough D,
|
||
Washenik K,
|
||
Whiting DA</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2005 Feb;52(2):301-11.
|
||
doi: 10.1016/j.jaad.2004.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15692478" target="_blank">15692478</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7015985">Androgen receptor deficiency: testicular feminization, its variants, and differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bardin CW,
|
||
Wright W</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Res</span>
|
||
1980 Oct;12(5):236-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7015985" target="_blank">7015985</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(3-oxo-5%20alpha-steroid%20delta%204-dehydrogenase%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 (19)</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/32596280">Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han B,
|
||
Cheng T,
|
||
Zhu H,
|
||
Yu J,
|
||
Zhu WJ,
|
||
Song HD,
|
||
Yao H,
|
||
Qiao J</span><br />
|
||
<span class="medgenPMjournal">Biomed Res Int</span>
|
||
2020;2020:1789514.
|
||
Epub 2020 Jun 9
|
||
doi: 10.1155/2020/1789514.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32596280" target="_blank">32596280</a><a href="/pmc/articles/PMC7301183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27224879">Steroid 5α-reductase 2 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mendonca BB,
|
||
Batista RL,
|
||
Domenice S,
|
||
Costa EM,
|
||
Arnhold IJ,
|
||
Russell DW,
|
||
Wilson JD</span><br />
|
||
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
|
||
2016 Oct;163:206-11.
|
||
Epub 2016 May 22
|
||
doi: 10.1016/j.jsbmb.2016.05.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27224879" target="_blank">27224879</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25321150">5-Alpha reductase deficiency: a 40-year retrospective review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okeigwe I,
|
||
Kuohung W</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2014 Dec;21(6):483-7.
|
||
doi: 10.1097/MED.0000000000000116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25321150" target="_blank">25321150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21347588">Mouse models for congenital disorders of glycosylation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiel C,
|
||
Körner C</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2011 Aug;34(4):879-89.
|
||
Epub 2011 Feb 24
|
||
doi: 10.1007/s10545-011-9295-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21347588" target="_blank">21347588</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12684130">Hormonal prevention of prostate cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brawley OW</span><br />
|
||
<span class="medgenPMjournal">Urol Oncol</span>
|
||
2003 Jan-Feb;21(1):67-72.
|
||
doi: 10.1016/s1078-1439(03)00004-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12684130" target="_blank">12684130</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-Oxo-5%20alpha-steroid%20delta%204-dehydrogenase%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 (67)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30266156">Inborn Errors of Bile Acid Metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heubi JE,
|
||
Setchell KDR,
|
||
Bove KE</span><br />
|
||
<span class="medgenPMjournal">Clin Liver Dis</span>
|
||
2018 Nov;22(4):671-687.
|
||
Epub 2018 Aug 22
|
||
doi: 10.1016/j.cld.2018.06.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30266156" target="_blank">30266156</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29858846">5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avendaño A,
|
||
Paradisi I,
|
||
Cammarata-Scalisi F,
|
||
Callea M</span><br />
|
||
<span class="medgenPMjournal">Hormones (Athens)</span>
|
||
2018 Jun;17(2):197-204.
|
||
Epub 2018 Apr 20
|
||
doi: 10.1007/s42000-018-0013-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29858846" target="_blank">29858846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25105706">Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nistal M,
|
||
Paniagua R,
|
||
González-Peramato P,
|
||
Reyes-Múgica M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2015 Jul-Aug;18(4):279-96.
|
||
Epub 2014 Aug 8
|
||
doi: 10.2350/14-04-1465-PB.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25105706" target="_blank">25105706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7704752">5-alpha-reductase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Imperato-McGinley J</span><br />
|
||
<span class="medgenPMjournal">Curr Ther Endocrinol Metab</span>
|
||
1994;5:351-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7704752" target="_blank">7704752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7015985">Androgen receptor deficiency: testicular feminization, its variants, and differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bardin CW,
|
||
Wright W</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Res</span>
|
||
1980 Oct;12(5):236-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7015985" target="_blank">7015985</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-Oxo-5%20alpha-steroid%20delta%204-dehydrogenase%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 (133)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37178876">"Exogenous" 5 Alpha Reductase Deficiency: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levy B,
|
||
Teplitsky S,
|
||
Kalaitzoglou E,
|
||
Kahler S,
|
||
Matheny JP,
|
||
Saltzman AF</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2023 Aug;178:147-150.
|
||
Epub 2023 May 11
|
||
doi: 10.1016/j.urology.2023.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37178876" target="_blank">37178876</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30266156">Inborn Errors of Bile Acid Metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heubi JE,
|
||
Setchell KDR,
|
||
Bove KE</span><br />
|
||
<span class="medgenPMjournal">Clin Liver Dis</span>
|
||
2018 Nov;22(4):671-687.
|
||
Epub 2018 Aug 22
|
||
doi: 10.1016/j.cld.2018.06.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30266156" target="_blank">30266156</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25942654">Genetics of androgen metabolism in women with infertility and hypoandrogenism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shohat-Tal A,
|
||
Sen A,
|
||
Barad DH,
|
||
Kushnir V,
|
||
Gleicher N</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2015 Jul;11(7):429-41.
|
||
Epub 2015 May 5
|
||
doi: 10.1038/nrendo.2015.64.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25942654" target="_blank">25942654</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3322849">Steroid hormones, behavior and sexual dimorphism in animals and men: the nature-nurture controversy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schumacher M,
|
||
Legros JJ,
|
||
Balthazart J</span><br />
|
||
<span class="medgenPMjournal">Exp Clin Endocrinol</span>
|
||
1987 Sep;90(2):129-56.
|
||
doi: 10.1055/s-0029-1210684.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3322849" target="_blank">3322849</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/363063">The incomplete male.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savage MO,
|
||
Grant DB</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1978 Sep;53(9):701-3.
|
||
doi: 10.1136/adc.53.9.701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/363063" target="_blank">363063</a><a href="/pmc/articles/PMC1545105" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-Oxo-5%20alpha-steroid%20delta%204-dehydrogenase%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 (34)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36768194">Germline Mutations in Steroid Metabolizing Enzymes: A Focus on Steroid Transforming Aldo-Keto Reductases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Detlefsen AJ,
|
||
Paulukinas RD,
|
||
Penning TM</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Jan 18;24(3)
|
||
doi: 10.3390/ijms24031873.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36768194" target="_blank">36768194</a><a href="/pmc/articles/PMC9915212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34162032">Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akiba K,
|
||
Aso K,
|
||
Hasegawa Y,
|
||
Fukami M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2021 Sep 27;34(9):1191-1195.
|
||
Epub 2021 Jun 24
|
||
doi: 10.1515/jpem-2020-0678.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34162032" target="_blank">34162032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31613402">5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avendaño A,
|
||
González-Coira M,
|
||
Paradisi I,
|
||
Rojas A,
|
||
Da Silva G,
|
||
Gómez-Pérez R,
|
||
Ceballos JO</span><br />
|
||
<span class="medgenPMjournal">Ann Hum Genet</span>
|
||
2020 Mar;84(2):151-160.
|
||
Epub 2019 Oct 15
|
||
doi: 10.1111/ahg.12358.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31613402" target="_blank">31613402</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25105706">Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nistal M,
|
||
Paniagua R,
|
||
González-Peramato P,
|
||
Reyes-Múgica M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2015 Jul-Aug;18(4):279-96.
|
||
Epub 2014 Aug 8
|
||
doi: 10.2350/14-04-1465-PB.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25105706" target="_blank">25105706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16286767">Psychological long-term outcome in intersex conditions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen-Kettenis P</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
2005;64 Suppl 2:27-30.
|
||
doi: 10.1159/000087750.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16286767" target="_blank">16286767</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-Oxo-5%20alpha-steroid%20delta%204-dehydrogenase%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 (36)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32596280">Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han B,
|
||
Cheng T,
|
||
Zhu H,
|
||
Yu J,
|
||
Zhu WJ,
|
||
Song HD,
|
||
Yao H,
|
||
Qiao J</span><br />
|
||
<span class="medgenPMjournal">Biomed Res Int</span>
|
||
2020;2020:1789514.
|
||
Epub 2020 Jun 9
|
||
doi: 10.1155/2020/1789514.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32596280" target="_blank">32596280</a><a href="/pmc/articles/PMC7301183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29858846">5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avendaño A,
|
||
Paradisi I,
|
||
Cammarata-Scalisi F,
|
||
Callea M</span><br />
|
||
<span class="medgenPMjournal">Hormones (Athens)</span>
|
||
2018 Jun;17(2):197-204.
|
||
Epub 2018 Apr 20
|
||
doi: 10.1007/s42000-018-0013-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29858846" target="_blank">29858846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25105706">Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nistal M,
|
||
Paniagua R,
|
||
González-Peramato P,
|
||
Reyes-Múgica M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2015 Jul-Aug;18(4):279-96.
|
||
Epub 2014 Aug 8
|
||
doi: 10.2350/14-04-1465-PB.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25105706" target="_blank">25105706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22812659">Androgen insensitivity syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mendoza N,
|
||
Motos MA</span><br />
|
||
<span class="medgenPMjournal">Gynecol Endocrinol</span>
|
||
2013 Jan;29(1):1-5.
|
||
Epub 2012 Jul 20
|
||
doi: 10.3109/09513590.2012.705378.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22812659" target="_blank">22812659</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18493133">Clinical implications of androgen synthesis via 5alpha-reduced precursors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghayee HK,
|
||
Auchus RJ</span><br />
|
||
<span class="medgenPMjournal">Endocr Dev</span>
|
||
2008;13:55-66.
|
||
doi: 10.1159/000134780.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18493133" target="_blank">18493133</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-Oxo-5%20alpha-steroid%20delta%204-dehydrogenase%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 (59)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/31004515">Establishing reproductive potential and advances in fertility preservation techniques for XY individuals with differences in sex development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Islam R,
|
||
Lane S,
|
||
Williams SA,
|
||
Becker CM,
|
||
Conway GS,
|
||
Creighton SM</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2019 Aug;91(2):237-244.
|
||
Epub 2019 May 2
|
||
doi: 10.1111/cen.13994.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31004515" target="_blank">31004515</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-Oxo-5%20alpha-steroid%20delta%204-dehydrogenase%20deficiency%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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</div>
|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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<div>
|
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|
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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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<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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0268297%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268297%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268297%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268297%5bDISCUI%5d" target="_blank">See all (25)</a></total></li>
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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=264600" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=753" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=3-Oxo-5%20alpha-steroid%20delta%204-dehydrogenase%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(3-oxo-5%20alpha-steroid%20delta%204-dehydrogenase%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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca69afb15b832ebcf323fd">3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency</a>
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