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1028 lines
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<!--
|
||
UID=414114
|
||
ConceptID=C2751824
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">46,XY disorder of sex development</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414114</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.">C2751824</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>46, XY disorder of sex development (DSD)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>46,XY disorder of sex development (880094008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0020040" target="_blank">MONDO:0020040</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=98085">ORPHA98085</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<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">Differences of sex development in individuals with 46,XY karyotype. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</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=C2751824[DISCUI]&test_type=Clinical" ref="ncbi_uid=414114">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=414114" ref="ncbi_uid=414114">V</a></span></span><span class="TLline">46,XY disorder of sex development</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/415936" ref="tree=MeSH" title="MedGen record for Disorder of sexual differentiation">Disorder of sexual differentiation</a></span><ul><li><span class="matched_ds">46,XY disorder of sex development</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><ul><li><span class="TLline"><a href="/medgen/309510" ref="tree=MeSH" title="MedGen record for Ovarian gonadoblastoma">Ovarian gonadoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/272839" ref="tree=MeSH" title="MedGen record for Testicular gonadoblastoma">Testicular gonadoblastoma</a></span></li></ul></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></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=13103&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">46,XY disorder of sex development</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/38913505">Clinical spectrum of human STAR variants and their genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Altinkilic EM,
|
||
Augsburger P,
|
||
Pandey AV,
|
||
Flück CE</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol</span>
|
||
2024 Sep 1;262(3)
|
||
Epub 2024 Jul 18
|
||
doi: 10.1530/JOE-24-0078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38913505" target="_blank">38913505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30269266">Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alswailem MM,
|
||
Alzahrani OS,
|
||
Alghofaili L,
|
||
Qasem E,
|
||
Almohanaa M,
|
||
Alsagheir A,
|
||
Bin Abbas B,
|
||
Attia NA,
|
||
Al Shaikh A,
|
||
Alzahrani AS</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2019 Feb;63(2):361-368.
|
||
Epub 2018 Sep 29
|
||
doi: 10.1007/s12020-018-1767-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30269266" target="_blank">30269266</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%2246%2Cxy%20disorder%20of%20sex%20development%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 (2)</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/31365064">Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wisniewski AB,
|
||
Batista RL,
|
||
Costa EMF,
|
||
Finlayson C,
|
||
Sircili MHP,
|
||
Dénes FT,
|
||
Domenice S,
|
||
Mendonca BB</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2019 Dec 1;40(6):1547-1572.
|
||
doi: 10.1210/er.2019-00049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31365064" target="_blank">31365064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29782383">Genetic testing of XY newborns with a suspected disorder of sex development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alimussina M,
|
||
Diver LA,
|
||
McGowan R,
|
||
Ahmed SF</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2018 Aug;30(4):548-557.
|
||
doi: 10.1097/MOP.0000000000000644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29782383" target="_blank">29782383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27163392">46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mendonca BB,
|
||
Gomes NL,
|
||
Costa EM,
|
||
Inacio M,
|
||
Martin RM,
|
||
Nishi MY,
|
||
Carvalho FM,
|
||
Tibor FD,
|
||
Domenice S</span><br />
|
||
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
|
||
2017 Jan;165(Pt A):79-85.
|
||
Epub 2016 May 6
|
||
doi: 10.1016/j.jsbmb.2016.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27163392" target="_blank">27163392</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/21691946">Studies of a cohort of 46,XY with DSD including steroid biosynthesis deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morel Y,
|
||
Plotton I,
|
||
Mallet D,
|
||
Nicolino M,
|
||
Bertrand AM,
|
||
David M,
|
||
Nihoul-Fekete C,
|
||
Chatelain P</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2011;707:15-7.
|
||
doi: 10.1007/978-1-4419-8002-1_4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21691946" target="_blank">21691946</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2246%2CXY%20disorder%20of%20sex%20development%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 (160)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37020056">Genetic control of typical and atypical sex development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reyes AP,
|
||
León NY,
|
||
Frost ER,
|
||
Harley VR</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Urol</span>
|
||
2023 Jul;20(7):434-451.
|
||
Epub 2023 Apr 5
|
||
doi: 10.1038/s41585-023-00754-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37020056" target="_blank">37020056</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36382929">Evaluations for Wilms tumor and late-onset nephrotic syndrome in 46,XY DSD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koizumi M,
|
||
Ida S,
|
||
Etani Y,
|
||
Kawai M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2023 Jan;65(1):e15418.
|
||
doi: 10.1111/ped.15418.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36382929" target="_blank">36382929</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33764589">Male assignment in 5α-reductase type 2 deficiency with female external genitalia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Konishi A,
|
||
Ida S,
|
||
Matsui F,
|
||
Etani Y,
|
||
Kawai M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2021 May;63(5):592-594.
|
||
Epub 2021 Mar 25
|
||
doi: 10.1111/ped.14447.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33764589" target="_blank">33764589</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33246831">Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babu R,
|
||
Shah U</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2021 Feb;17(1):39-47.
|
||
Epub 2020 Nov 12
|
||
doi: 10.1016/j.jpurol.2020.11.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33246831" target="_blank">33246831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31365064">Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wisniewski AB,
|
||
Batista RL,
|
||
Costa EMF,
|
||
Finlayson C,
|
||
Sircili MHP,
|
||
Dénes FT,
|
||
Domenice S,
|
||
Mendonca BB</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2019 Dec 1;40(6):1547-1572.
|
||
doi: 10.1210/er.2019-00049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31365064" target="_blank">31365064</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2246%2CXY%20disorder%20of%20sex%20development%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 (283)</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/34350903">Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stancampiano MR,
|
||
Lucas-Herald AK,
|
||
Bryce J,
|
||
Russo G,
|
||
Barera G,
|
||
Balsamo A,
|
||
Baronio F,
|
||
Bertelloni S,
|
||
Valiani M,
|
||
Cools M,
|
||
Tack LJW,
|
||
Darendeliler F,
|
||
Poyrazoglu S,
|
||
Globa E,
|
||
Grinspon R,
|
||
Hannema SE,
|
||
Hughes IA,
|
||
Tadokoro-Cuccaro R,
|
||
Thankamony A,
|
||
Iotova V,
|
||
Mladenov V,
|
||
Konrad D,
|
||
Mazen I,
|
||
Niedziela M,
|
||
Kolesinska Z,
|
||
Nordenström A,
|
||
Ahmed SF</span><br />
|
||
<span class="medgenPMjournal">Sex Dev</span>
|
||
2021;15(4):236-243.
|
||
Epub 2021 Jul 7
|
||
doi: 10.1159/000516784.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34350903" target="_blank">34350903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30587405">Pure Seminoma and Concurrent Aggressive Lymphoma: Case Report of a Patient With Persistent Müllerian Duct Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonnet E,
|
||
Tartas S,
|
||
Lazareth A,
|
||
Jaouen A,
|
||
Tamarelle B,
|
||
You B,
|
||
Maillet D</span><br />
|
||
<span class="medgenPMjournal">Clin Genitourin Cancer</span>
|
||
2019 Apr;17(2):e369-e371.
|
||
Epub 2018 Dec 5
|
||
doi: 10.1016/j.clgc.2018.11.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30587405" target="_blank">30587405</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24792890">Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakircioglu ME,
|
||
Tulay P,
|
||
Findikli N,
|
||
Erzik B,
|
||
Gultomruk M,
|
||
Bahceci M</span><br />
|
||
<span class="medgenPMjournal">J Assist Reprod Genet</span>
|
||
2014 Jul;31(7):817-21.
|
||
Epub 2014 May 3
|
||
doi: 10.1007/s10815-014-0241-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24792890" target="_blank">24792890</a><a href="/pmc/articles/PMC4096883" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20940426">Hormone resistance at the clinical level.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hochberg Z</span><br />
|
||
<span class="medgenPMjournal">Sci Signal</span>
|
||
2010 Oct 12;3(143):pt1.
|
||
doi: 10.1126/scisignal.3143pt1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20940426" target="_blank">20940426</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2246%2CXY%20disorder%20of%20sex%20development%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 (24)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34537773">Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kouri C,
|
||
Sommer G,
|
||
Flück CE</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2023;96(2):169-179.
|
||
Epub 2021 Sep 17
|
||
doi: 10.1159/000519691.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34537773" target="_blank">34537773</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34537849">Clinical Utility of Anti-Mullerian Hormone in Pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanakatti Shankar R,
|
||
Dowlut-McElroy T,
|
||
Dauber A,
|
||
Gomez-Lobo V</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Jan 18;107(2):309-323.
|
||
doi: 10.1210/clinem/dgab687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34537849" target="_blank">34537849</a><a href="/pmc/articles/PMC8764360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28791954">Heterogeneity of human WT1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bielińska E,
|
||
Matiakowska K,
|
||
Haus O</span><br />
|
||
<span class="medgenPMjournal">Postepy Hig Med Dosw (Online)</span>
|
||
2017 Jul 11;71(0):595-601.
|
||
doi: 10.5604/01.3001.0010.3840.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28791954" target="_blank">28791954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23044878">MAMLD1 and 46,XY disorders of sex development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogata T,
|
||
Sano S,
|
||
Nagata E,
|
||
Kato F,
|
||
Fukami M</span><br />
|
||
<span class="medgenPMjournal">Semin Reprod Med</span>
|
||
2012 Oct;30(5):410-6.
|
||
Epub 2012 Oct 8
|
||
doi: 10.1055/s-0032-1324725.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23044878" target="_blank">23044878</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22078657">A model of delivering multi-disciplinary care to people with 46 XY DSD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palmer BW,
|
||
Wisniewski AB,
|
||
Schaeffer TL,
|
||
Mallappa A,
|
||
Tryggestad JB,
|
||
Krishnan S,
|
||
Chalmers LJ,
|
||
Copeland K,
|
||
Chernausek SD,
|
||
Reiner WG,
|
||
Kropp BP</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2012 Feb;8(1):7-16.
|
||
Epub 2011 Nov 9
|
||
doi: 10.1016/j.jpurol.2011.08.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22078657" target="_blank">22078657</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2246%2CXY%20disorder%20of%20sex%20development%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 (84)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38555233">Clinical characteristics and surgical treatment of children with 45, X/46, XY differences of sex development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peng L,
|
||
Chen Y,
|
||
Hu J,
|
||
Zhao Y,
|
||
Qin F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2024 Aug;20(4):696-702.
|
||
Epub 2024 Mar 7
|
||
doi: 10.1016/j.jpurol.2024.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38555233" target="_blank">38555233</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34537773">Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kouri C,
|
||
Sommer G,
|
||
Flück CE</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2023;96(2):169-179.
|
||
Epub 2021 Sep 17
|
||
doi: 10.1159/000519691.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34537773" target="_blank">34537773</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34537849">Clinical Utility of Anti-Mullerian Hormone in Pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanakatti Shankar R,
|
||
Dowlut-McElroy T,
|
||
Dauber A,
|
||
Gomez-Lobo V</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Jan 18;107(2):309-323.
|
||
doi: 10.1210/clinem/dgab687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34537849" target="_blank">34537849</a><a href="/pmc/articles/PMC8764360" 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/23044878">MAMLD1 and 46,XY disorders of sex development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogata T,
|
||
Sano S,
|
||
Nagata E,
|
||
Kato F,
|
||
Fukami M</span><br />
|
||
<span class="medgenPMjournal">Semin Reprod Med</span>
|
||
2012 Oct;30(5):410-6.
|
||
Epub 2012 Oct 8
|
||
doi: 10.1055/s-0032-1324725.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23044878" target="_blank">23044878</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2246%2CXY%20disorder%20of%20sex%20development%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 (110)</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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35170787">17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role-focused systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krishnappa B,
|
||
Arya S,
|
||
Lila AR,
|
||
Sarathi V,
|
||
Memon SS,
|
||
Barnabas R,
|
||
Kumbhar BV,
|
||
Bhandare VV,
|
||
Patil V,
|
||
Shah NS,
|
||
Kunwar A,
|
||
Bandgar T</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2022 Jul;97(1):43-51.
|
||
Epub 2022 Feb 27
|
||
doi: 10.1111/cen.14694.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35170787" target="_blank">35170787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34537849">Clinical Utility of Anti-Mullerian Hormone in Pediatrics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanakatti Shankar R,
|
||
Dowlut-McElroy T,
|
||
Dauber A,
|
||
Gomez-Lobo V</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Jan 18;107(2):309-323.
|
||
doi: 10.1210/clinem/dgab687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34537849" target="_blank">34537849</a><a href="/pmc/articles/PMC8764360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33246831">Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babu R,
|
||
Shah U</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2021 Feb;17(1):39-47.
|
||
Epub 2020 Nov 12
|
||
doi: 10.1016/j.jpurol.2020.11.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33246831" target="_blank">33246831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32133887">Mental health outcomes among individuals with 46,XY disorders of sex development: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Godfrey LM</span><br />
|
||
<span class="medgenPMjournal">J Health Psychol</span>
|
||
2021 Jan;26(1):40-59.
|
||
Epub 2020 Mar 5
|
||
doi: 10.1177/1359105320909863.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32133887" target="_blank">32133887</a></div>
|
||
|
||
<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=%2246%2CXY%20disorder%20of%20sex%20development%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 (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
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|
||
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||
|
||
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|
||
|
||
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2751824%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751824%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C2751824%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=C2751824%5bDISCUI%5d" target="_blank">See all (5)</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=98085" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=46,XY%20disorder%20of%20sex%20development" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</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=(%2246%2Cxy%20disorder%20of%20sex%20development%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/46xy_sex_reversal_3_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=46,XY%20disorder%20of%20sex%20development" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/8538/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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<a href="/pubmed/clinical?term=46,XY%20disorder%20of%20sex%20development" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=46,XY%20disorder%20of%20sex%20development%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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