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<!--
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||
UID=415936
|
||
ConceptID=C2930619
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Disorder of sexual differentiation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>415936</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.">C2930619</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>Difference of sexual differentiation; Disorder of sex development</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Disorder of sexual differentiation (39179006)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0002145" target="_blank">MONDO:0002145</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=90771">ORPHA90771</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>
|
||
<div class="portlet_content ln">A congenital disorder characterized by abnormalities in the development of the sexual characteristics. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
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<div class="portlet mgSection" id="ID_118">
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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></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=C2930619[DISCUI]&test_type=Clinical" ref="ncbi_uid=415936">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=415936" ref="ncbi_uid=415936">V</a></span></span><span class="TLline">Disorder of sexual differentiation</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><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="matched_ds">Disorder of sexual differentiation</span><ul><li><span class="TLline"><a href="/medgen/424728" ref="tree=MeSH" title="MedGen record for 46,XX disorder of sex development">46,XX disorder of sex development</a></span><ul><li><span class="TLline"><a href="/medgen/424734" ref="tree=MeSH" title="MedGen record for 46,XX testicular disorder of sex development">46,XX testicular disorder of sex development</a></span><ul><li><span class="TLline"><a href="/medgen/411324" ref="tree=MeSH" title="MedGen record for 46,XX sex reversal 1">46,XX sex reversal 1</a></span></li><li><span class="TLline"><a href="/medgen/411414" ref="tree=MeSH" title="MedGen record for 46,XX sex reversal 2">46,XX sex reversal 2</a></span></li><li><span class="TLline"><a href="/medgen/463132" ref="tree=MeSH" title="MedGen record for 46,XX sex reversal 3">46,XX sex reversal 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/64509" ref="tree=MeSH" title="MedGen record for Hyperandrogenization syndrome">Hyperandrogenization syndrome</a></span></li><li><span class="TLline"><a href="/medgen/215397" ref="tree=MeSH" title="MedGen record for Ovarian dysgenesis 1">Ovarian dysgenesis 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/927565" ref="tree=MeSH" title="MedGen record for 46,XX/46,XY Ovotesticular Differences of Sex Development">46,XX/46,XY Ovotesticular Differences of Sex Development</a></span></li><li><span class="TLline"><a href="/medgen/414114" ref="tree=MeSH" title="MedGen record for 46,XY disorder of sex development">46,XY disorder of sex development</a></span><ul><li><span class="TLline"><a href="/medgen/64512" ref="tree=MeSH" title="MedGen record for 11p partial monosomy syndrome">11p partial monosomy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/412662" ref="tree=MeSH" title="MedGen record for 46,XY sex reversal 1">46,XY sex reversal 1</a></span></li><li><span class="TLline"><a href="/medgen/416704" ref="tree=MeSH" title="MedGen record for 46,XY sex reversal 4">46,XY sex reversal 4</a></span></li><li><span class="TLline"><a href="/medgen/21102" ref="tree=MeSH" title="MedGen record for Androgen resistance syndrome">Androgen resistance syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1788327" ref="tree=MeSH" title="MedGen record for Androgen insensitivity syndrome, mild">Androgen insensitivity syndrome, mild</a></span></li><li><span class="TLline"><a href="/medgen/183188" ref="tree=MeSH" title="MedGen record for Complete androgen insensitivity syndrome">Complete androgen insensitivity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82785" ref="tree=MeSH" title="MedGen record for Partial androgen insensitivity syndrome">Partial androgen insensitivity syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/181980" ref="tree=MeSH" title="MedGen record for Drash syndrome">Drash syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/885368" ref="tree=MeSH" title="MedGen record for Denys-Drash Syndrome, Incomplete">Denys-Drash Syndrome, Incomplete</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/215533" ref="tree=MeSH" title="MedGen record for Frasier syndrome">Frasier syndrome</a></span></li><li><span class="TLline"><a href="/medgen/5361" ref="tree=MeSH" title="MedGen record for Gonadal dysgenesis, male">Gonadal dysgenesis, male</a></span><ul><li><span class="TLline"><a href="/medgen/104912" ref="tree=MeSH" title="MedGen record for Gonadoblastoma">Gonadoblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/102469" ref="tree=MeSH" title="MedGen record for Hypogonadism with anosmia">Hypogonadism with anosmia</a></span><ul><li><span class="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><li><span class="TLline"><a href="/medgen/278031" ref="tree=MeSH" title="MedGen record for Penile agenesis">Penile agenesis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/394582" ref="tree=MeSH" title="MedGen record for 46,XY ovotesticular disorder of sex development">46,XY ovotesticular disorder of sex development</a></span></li><li><span class="TLline"><a href="/medgen/1383408" ref="tree=MeSH" title="MedGen record for Idiopathic 46,XY Differences of Sex Development">Idiopathic 46,XY Differences of Sex Development</a></span></li><li><span class="TLline"><a href="/medgen/926070" ref="tree=MeSH" title="MedGen record for Ovotesticular Differences of Sex Development">Ovotesticular Differences of Sex Development</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27116846">Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colindres JV,
|
||
Axelrad M,
|
||
McCullough L,
|
||
Smith EO,
|
||
Huang GO,
|
||
Tu DD,
|
||
Bercaw-Pratt JL,
|
||
Cheni MJ,
|
||
Mendiratta M,
|
||
Gunn S,
|
||
Sutton R,
|
||
Macias C,
|
||
Karaviti LP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2016 Mar;13(3):585-601.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27116846" target="_blank">27116846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1292987">Male pseudohermaphroditism: clinical management, diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes IA,
|
||
Williams DM,
|
||
Batch JA,
|
||
Patterson MN</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
1992;38 Suppl 2:77-81.
|
||
doi: 10.1159/000182604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1292987" target="_blank">1292987</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2902694">The undescended testis. Hormonal and surgical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elder JS</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
1988 Oct;68(5):983-1005.
|
||
doi: 10.1016/s0039-6109(16)44633-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2902694" target="_blank">2902694</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22disorder%20of%20sexual%20differentiation%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 (3)</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/37116050">Case Report of Male Pseudohermaphroditism (Androgen Insensitivity Syndrome): Congenital Disorder of Sexual Differentiation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel K,
|
||
Dessi D,
|
||
Trivedi S</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2023 Jan;71(1):1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37116050" target="_blank">37116050</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37019765">Testicular malignancy in persistent Mullerian duct syndrome: Experience from an apex cancer center with review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Philips MR,
|
||
Menon AR,
|
||
Kumar GR,
|
||
Malik K,
|
||
Chandrasekaran S,
|
||
Ramaswamy T,
|
||
Narayanaswamy K,
|
||
Raja A</span><br />
|
||
<span class="medgenPMjournal">Urol Oncol</span>
|
||
2023 May;41(5):258.e1-258.e6.
|
||
Epub 2023 Apr 3
|
||
doi: 10.1016/j.urolonc.2023.02.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37019765" target="_blank">37019765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35970739">45 years' experience with early childhood anatomical technique of feminising genitoplasty for 46 XX Congenital Adrenal Hyperplasia -observations of vaginal introital anatomy and its relationship to the perineal body.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hennayake S,
|
||
Barnes A,
|
||
Mariotto A,
|
||
Goyal A,
|
||
Ajao A,
|
||
Cserni T,
|
||
Busby G,
|
||
Patel L,
|
||
Skae M,
|
||
Nicholson J,
|
||
Bianchi A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2022 Oct;18(5):611.e1-611.e8.
|
||
Epub 2022 Jul 19
|
||
doi: 10.1016/j.jpurol.2022.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35970739" target="_blank">35970739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22245297">Müllerian remnant malignancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phalen A,
|
||
Akhavan A,
|
||
Hall SJ</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2012 Mar;79(3):e38-9.
|
||
Epub 2012 Jan 13
|
||
doi: 10.1016/j.urology.2011.11.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22245297" target="_blank">22245297</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2902694">The undescended testis. Hormonal and surgical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elder JS</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
1988 Oct;68(5):983-1005.
|
||
doi: 10.1016/s0039-6109(16)44633-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2902694" target="_blank">2902694</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20sexual%20differentiation%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 (18)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34355264">The radiologist's role in assessing differences of sex development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hryhorczuk AL,
|
||
Phelps AS,
|
||
Yu RN,
|
||
Chow JS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2022 Apr;52(4):752-764.
|
||
Epub 2021 Aug 5
|
||
doi: 10.1007/s00247-021-05147-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34355264" target="_blank">34355264</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32125721">Discordant fetal sex on NIPT and ultrasound.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smet ME,
|
||
Scott FP,
|
||
McLennan AC</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2020 Oct;40(11):1353-1365.
|
||
Epub 2020 Aug 17
|
||
doi: 10.1002/pd.5676.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32125721" target="_blank">32125721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24412121">The effect of 5α-reductase-2 deficiency on human fertility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang HJ,
|
||
Imperato-McGinley J,
|
||
Zhu YS,
|
||
Rosenwaks Z</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2014 Feb;101(2):310-6.
|
||
Epub 2014 Jan 8
|
||
doi: 10.1016/j.fertnstert.2013.11.128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24412121" target="_blank">24412121</a><a href="/pmc/articles/PMC4031759" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22245297">Müllerian remnant malignancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phalen A,
|
||
Akhavan A,
|
||
Hall SJ</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2012 Mar;79(3):e38-9.
|
||
Epub 2012 Jan 13
|
||
doi: 10.1016/j.urology.2011.11.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22245297" target="_blank">22245297</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15502538">A newborn infant with a disorder of sexual differentiation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stein MT,
|
||
Sandberg DE,
|
||
Mazur T,
|
||
Eugster E,
|
||
Daaboul J</span><br />
|
||
<span class="medgenPMjournal">J Dev Behav Pediatr</span>
|
||
2004 Oct;25(5 Suppl):S74-8.
|
||
doi: 10.1097/00004703-200410001-00015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15502538" target="_blank">15502538</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20sexual%20differentiation%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 (29)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34226143">Surgical outcomes and socio-demographic pattern of hypospadias patients treated in a tertiary care center in Kabul, Afghanistan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jurat R,
|
||
Rahimi MT,
|
||
Barolia R</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2021 Oct;17(5):674.e1-674.e7.
|
||
Epub 2021 Jun 19
|
||
doi: 10.1016/j.jpurol.2021.06.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34226143" target="_blank">34226143</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31858843">POI after chemotherapy and bone marrow transplant may mimic disorders of sexual differentiation - a case report of a patient with primary amenorrhea and 46, XY karyotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruszewska J,
|
||
Krzywdzińska S,
|
||
Grymowicz M,
|
||
Smolarczyk R,
|
||
Meczekalski B</span><br />
|
||
<span class="medgenPMjournal">Gynecol Endocrinol</span>
|
||
2020 Jun;36(6):564-566.
|
||
Epub 2019 Dec 20
|
||
doi: 10.1080/09513590.2019.1703941.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31858843" target="_blank">31858843</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23702801">5 α-reductase type 2 deficiency: response to dihydrotestosterone gel.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vupputuri M,
|
||
Kandepu M,
|
||
Devireddy HR</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2014 Aug;81(8):821-3.
|
||
Epub 2013 May 24
|
||
doi: 10.1007/s12098-013-1032-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23702801" target="_blank">23702801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15001585">Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pitteloud N,
|
||
Villegas J,
|
||
Dwyer AA,
|
||
Crowley WF Jr,
|
||
McPhaul MJ,
|
||
Hayes FJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2004 Mar;89(3):1053-8.
|
||
doi: 10.1210/jc.2003-031373.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15001585" target="_blank">15001585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2902694">The undescended testis. Hormonal and surgical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elder JS</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
1988 Oct;68(5):983-1005.
|
||
doi: 10.1016/s0039-6109(16)44633-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2902694" target="_blank">2902694</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20sexual%20differentiation%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31707446">The perineal midsagittal view in male fetuses - pivotal for assessing genitourinary disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garel J,
|
||
Blondiaux E,
|
||
Della Valle V,
|
||
Guilbaud L,
|
||
Khachab F,
|
||
Jouannic JM,
|
||
Ducou le Pointe H,
|
||
Garel C</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2020 Apr;50(4):575-582.
|
||
Epub 2019 Nov 9
|
||
doi: 10.1007/s00247-019-04551-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31707446" target="_blank">31707446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30444213">Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yan M,
|
||
Dilihuma J,
|
||
Luo Y,
|
||
Reyilanmu B,
|
||
Shen Y,
|
||
Mireguli M</span><br />
|
||
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
|
||
2019 May 28;11(2):211-217.
|
||
Epub 2018 Nov 16
|
||
doi: 10.4274/jcrpe.galenos.2018.2018.0197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30444213" target="_blank">30444213</a><a href="/pmc/articles/PMC6571543" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27086719">Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deeb A,
|
||
Al Suwaidi H,
|
||
Ibukunoluwa F,
|
||
Attia S</span><br />
|
||
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
|
||
2016 Jun 5;8(2):236-40.
|
||
Epub 2016 Apr 18
|
||
doi: 10.4274/jcrpe.2782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27086719" target="_blank">27086719</a><a href="/pmc/articles/PMC5096483" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26989195">Sex differences in autism: a resting-state fMRI investigation of functional brain connectivity in males and females.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alaerts K,
|
||
Swinnen SP,
|
||
Wenderoth N</span><br />
|
||
<span class="medgenPMjournal">Soc Cogn Affect Neurosci</span>
|
||
2016 Jun;11(6):1002-16.
|
||
Epub 2016 Mar 17
|
||
doi: 10.1093/scan/nsw027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26989195" target="_blank">26989195</a><a href="/pmc/articles/PMC4884321" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25781530">Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grover M,
|
||
French S,
|
||
Yazdani P</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2015 Jul;28(7-8):937-41.
|
||
doi: 10.1515/jpem-2014-0388.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25781530" target="_blank">25781530</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20sexual%20differentiation%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35970739">45 years' experience with early childhood anatomical technique of feminising genitoplasty for 46 XX Congenital Adrenal Hyperplasia -observations of vaginal introital anatomy and its relationship to the perineal body.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hennayake S,
|
||
Barnes A,
|
||
Mariotto A,
|
||
Goyal A,
|
||
Ajao A,
|
||
Cserni T,
|
||
Busby G,
|
||
Patel L,
|
||
Skae M,
|
||
Nicholson J,
|
||
Bianchi A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2022 Oct;18(5):611.e1-611.e8.
|
||
Epub 2022 Jul 19
|
||
doi: 10.1016/j.jpurol.2022.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35970739" target="_blank">35970739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30444213">Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yan M,
|
||
Dilihuma J,
|
||
Luo Y,
|
||
Reyilanmu B,
|
||
Shen Y,
|
||
Mireguli M</span><br />
|
||
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
|
||
2019 May 28;11(2):211-217.
|
||
Epub 2018 Nov 16
|
||
doi: 10.4274/jcrpe.galenos.2018.2018.0197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30444213" target="_blank">30444213</a><a href="/pmc/articles/PMC6571543" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26989195">Sex differences in autism: a resting-state fMRI investigation of functional brain connectivity in males and females.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alaerts K,
|
||
Swinnen SP,
|
||
Wenderoth N</span><br />
|
||
<span class="medgenPMjournal">Soc Cogn Affect Neurosci</span>
|
||
2016 Jun;11(6):1002-16.
|
||
Epub 2016 Mar 17
|
||
doi: 10.1093/scan/nsw027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26989195" target="_blank">26989195</a><a href="/pmc/articles/PMC4884321" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25099636">Inflatable penile prosthesis technique and outcomes after radial forearm free flap neophalloplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Segal RL,
|
||
Massanyi EZ,
|
||
Gupta AD,
|
||
Gearhart JP,
|
||
Redett RJ,
|
||
Bivalacqua TJ,
|
||
Burnett AL</span><br />
|
||
<span class="medgenPMjournal">Int J Impot Res</span>
|
||
2015 Mar-Apr;27(2):49-53.
|
||
Epub 2014 Aug 7
|
||
doi: 10.1038/ijir.2014.30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25099636" target="_blank">25099636</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2723912">Familial XX chromosomal maleness does not arise from a Y chromosomal translocation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ostrer H,
|
||
Wright G,
|
||
Clayton M,
|
||
Skordis N,
|
||
MacGillivray MH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1989 Jun;114(6):977-82.
|
||
doi: 10.1016/s0022-3476(89)80441-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2723912" target="_blank">2723912</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Disorder%20of%20sexual%20differentiation%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 (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<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_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=C2930619%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=C2930619%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=90771" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Disorder%20of%20sexual%20differentiation" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22disorder%20of%20sexual%20differentiation%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Disorder%20of%20sexual%20differentiation%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a href="/pubmed/clinical?term=Disorder%20of%20sexual%20differentiation" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Disorder%20of%20sexual%20differentiation%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2930619[DISCUI]" ref="log$=recordlinks">GTR</a>
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