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<meta name="keywords" content="46, xx sex reversal 4, 46,xx sex reversal 4, 46,xx sex reversal, sry-negative, C4479552, congenital abnormality, nr5a1, srxx4, 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="Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>46,XX sex reversal 4 (Concept Id: C4479552)
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<!--
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UID=1373282
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||
ConceptID=C4479552
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">46,XX sex reversal 4<span class="h1sub">(SRXX4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1373282</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:">C4479552</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>46, XX sex reversal 4; 46,XX SEX REVERSAL, SRY-NEGATIVE; SRXX4</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="NR5A1 - ID: 2516 - NCBI Gene" href="/gene/2516" class="medgenPMinfo">NR5A1</a> (9q33.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0060489" target="_blank">MONDO:0060489</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617480" target="_blank">617480</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1416" target="_blank">Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development</a></div><div>Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1416#xxms.Summary" target="NBK1416">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1416#xxms.GeneReview_Scope" target="NBK1416">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1416#xxms.Diagnosis" target="NBK1416">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1416#xxms.Clinical_Characteristics" target="NBK1416">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1416#xxms.Genetically_Related_Allelic_Disorde" target="NBK1416">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1416#xxms.Differential_Diagnosis" target="NBK1416">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1416#xxms.Management" target="NBK1416">Management</a> | <a class="medgenPMinfo" href="/books/NBK1416#xxms.Genetic_Counseling" target="NBK1416">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1416#xxms.Resources" target="NBK1416">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1416#xxms.Molecular_Genetics" target="NBK1416">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1416#xxms.Chapter_Notes" target="NBK1416">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1416#xxms.References" target="NBK1416">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Emmanuèle C Délot | Eric J Vilain <a href="/books/NBK1416" target="NBK1416" title="NCBI Bookshelf: Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<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_9075"><div><strong>Gonadal dysgenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9075</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.">C0018051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9075">Feature record</a> | <a href="/medgen?term=%22Gonadal%20dysgenesis%22%5BClinical%20Features%5D%20OR%209075%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57848"><div><strong>Clitoral hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57848</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.">C0156394</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophy of the clitoris.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57848">Feature record</a> | <a href="/medgen?term=%22Clitoral%20hypertrophy%22%5BClinical%20Features%5D%20OR%2057848%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78596"><div><strong>Ambiguous genitalia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78596</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.">C0266362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78596">Feature record</a> | <a href="/medgen?term=%22Ambiguous%20genitalia%22%5BClinical%20Features%5D%20OR%2078596%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105291"><div><strong>Penoscrotal hypospadias</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105291</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.">C0452147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105291">Feature record</a> | <a href="/medgen?term=%22Penoscrotal%20hypospadias%22%5BClinical%20Features%5D%20OR%20105291%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_636075"><div><strong>Retractile testis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>636075</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.">C0520578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/636075">Feature record</a> | <a href="/medgen?term=%22Retractile%20testis%22%5BClinical%20Features%5D%20OR%20636075%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1383259"><div><strong>Fused labia majora</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1383259</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.">C4476806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The outer labia are sealed together.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1383259">Feature record</a> | <a href="/medgen?term=%22Fused%20labia%20majora%22%5BClinical%20Features%5D%20OR%201383259%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1634511"><div><strong>Ovotestis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634511</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.">C4551490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A gonad that contains both ovarian follicles and testicular tubular elements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634511">Feature record</a> | <a href="/medgen?term=%22Ovotestis%22%5BClinical%20Features%5D%20OR%201634511%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="TreeLite"><ul><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_78596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ambiguous genitalia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clitoral hypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1383259" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fused labia majora</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gonadal dysgenesis</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_1634511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovotestis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Penoscrotal hypospadias</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_636075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retractile testis</a></span></li></ul></li></ul></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/38708796">Primary amenorrhoea - cytogenetic study in 40 Indian women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Banerjee B,
|
||
Dutta A,
|
||
Roy S,
|
||
Halder A</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol</span>
|
||
2024 Dec;44(1):2348085.
|
||
Epub 2024 May 6
|
||
doi: 10.1080/01443615.2024.2348085.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38708796" target="_blank">38708796</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12364433">Prenatal diagnosis of sex differentiation disorders: the role of fetal ultrasound.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinhas-Hamiel O,
|
||
Zalel Y,
|
||
Smith E,
|
||
Mazkereth R,
|
||
Aviram A,
|
||
Lipitz S,
|
||
Achiron R</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2002 Oct;87(10):4547-53.
|
||
doi: 10.1210/jc.2001-011034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12364433" target="_blank">12364433</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(46%2Cxx%20sex%20reversal%204)%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/28854582">Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berglund A,
|
||
Johannsen TH,
|
||
Stochholm K,
|
||
Aksglaede L,
|
||
Fedder J,
|
||
Viuff MH,
|
||
Main KM,
|
||
Gravholt CH</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2017 Aug 1;32(8):1751-1760.
|
||
doi: 10.1093/humrep/dex210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28854582" target="_blank">28854582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26492835">Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan AO,
|
||
But WM,
|
||
Lee CY,
|
||
Lam YY,
|
||
Ng KL,
|
||
Loung PY,
|
||
Lam A,
|
||
Cheng CW,
|
||
Shek CC,
|
||
Wong WS,
|
||
Wong KF,
|
||
Wong MY,
|
||
Tse WY</span><br />
|
||
<span class="medgenPMjournal">Hong Kong Med J</span>
|
||
2015 Dec;21(6):499-510.
|
||
Epub 2015 Oct 16
|
||
doi: 10.12809/hkmj144402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26492835" target="_blank">26492835</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25604083">Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim GJ,
|
||
Sock E,
|
||
Buchberger A,
|
||
Just W,
|
||
Denzer F,
|
||
Hoepffner W,
|
||
German J,
|
||
Cole T,
|
||
Mann J,
|
||
Seguin JH,
|
||
Zipf W,
|
||
Costigan C,
|
||
Schmiady H,
|
||
Rostásy M,
|
||
Kramer M,
|
||
Kaltenbach S,
|
||
Rösler B,
|
||
Georg I,
|
||
Troppmann E,
|
||
Teichmann AC,
|
||
Salfelder A,
|
||
Widholz SA,
|
||
Wieacker P,
|
||
Hiort O,
|
||
Camerino G,
|
||
Radi O,
|
||
Wegner M,
|
||
Arnold HH,
|
||
Scherer G</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2015 Apr;52(4):240-7.
|
||
Epub 2015 Jan 20
|
||
doi: 10.1136/jmedgenet-2014-102864.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25604083" target="_blank">25604083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23157850">SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hersmus R,
|
||
Stoop H,
|
||
Turbitt E,
|
||
Oosterhuis JW,
|
||
Drop SL,
|
||
Sinclair AH,
|
||
White SJ,
|
||
Looijenga LH</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2012 Nov 16;13:108.
|
||
doi: 10.1186/1471-2350-13-108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23157850" target="_blank">23157850</a><a href="/pmc/articles/PMC3538515" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10588843">Autosomal XX sex reversal caused by duplication of SOX9.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang B,
|
||
Wang S,
|
||
Ning Y,
|
||
Lamb AN,
|
||
Bartley J</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1999 Dec 3;87(4):349-53.
|
||
doi: 10.1002/(sici)1096-8628(19991203)87:4<349::aid-ajmg13>3.0.co;2-n.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10588843" target="_blank">10588843</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2246%2CXX%20sex%20reversal%204%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 (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38708796">Primary amenorrhoea - cytogenetic study in 40 Indian women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Banerjee B,
|
||
Dutta A,
|
||
Roy S,
|
||
Halder A</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol</span>
|
||
2024 Dec;44(1):2348085.
|
||
Epub 2024 May 6
|
||
doi: 10.1080/01443615.2024.2348085.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38708796" target="_blank">38708796</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29575617">Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tallapaka K,
|
||
Venugopal V,
|
||
Dalal A,
|
||
Aggarwal S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Apr;176(4):1006-1010.
|
||
doi: 10.1002/ajmg.a.38646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29575617" target="_blank">29575617</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28854582">Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berglund A,
|
||
Johannsen TH,
|
||
Stochholm K,
|
||
Aksglaede L,
|
||
Fedder J,
|
||
Viuff MH,
|
||
Main KM,
|
||
Gravholt CH</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2017 Aug 1;32(8):1751-1760.
|
||
doi: 10.1093/humrep/dex210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28854582" target="_blank">28854582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28328136">22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falah N,
|
||
Posey JE,
|
||
Thorson W,
|
||
Benke P,
|
||
Tekin M,
|
||
Tarshish B,
|
||
Lupski JR,
|
||
Harel T</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2017 Apr;173(4):1066-1070.
|
||
doi: 10.1002/ajmg.a.38109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28328136" target="_blank">28328136</a><a href="/pmc/articles/PMC5536953" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8725494">A case of sex reversal syndrome with sex-determining region (XX male).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamoto M,
|
||
Yokoi K,
|
||
Katsuno S,
|
||
Hibi H,
|
||
Miyake K</span><br />
|
||
<span class="medgenPMjournal">Nagoya J Med Sci</span>
|
||
1995 Dec;58(3-4):111-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8725494" target="_blank">8725494</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2246%2CXX%20sex%20reversal%204%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 (9)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28854582">Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berglund A,
|
||
Johannsen TH,
|
||
Stochholm K,
|
||
Aksglaede L,
|
||
Fedder J,
|
||
Viuff MH,
|
||
Main KM,
|
||
Gravholt CH</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2017 Aug 1;32(8):1751-1760.
|
||
doi: 10.1093/humrep/dex210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28854582" target="_blank">28854582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24668626">Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen L,
|
||
Ding XP,
|
||
Wei X,
|
||
Li LX</span><br />
|
||
<span class="medgenPMjournal">Genet Mol Res</span>
|
||
2014 Mar 12;13(1):1518-26.
|
||
doi: 10.4238/2014.March.12.4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24668626" target="_blank">24668626</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22964562">Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janner M,
|
||
Flück CE,
|
||
Mullis PE</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2012;78(4):261-8.
|
||
Epub 2012 Sep 6
|
||
doi: 10.1159/000341585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22964562" target="_blank">22964562</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2246%2CXX%20sex%20reversal%204%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28854582">Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berglund A,
|
||
Johannsen TH,
|
||
Stochholm K,
|
||
Aksglaede L,
|
||
Fedder J,
|
||
Viuff MH,
|
||
Main KM,
|
||
Gravholt CH</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2017 Aug 1;32(8):1751-1760.
|
||
doi: 10.1093/humrep/dex210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28854582" target="_blank">28854582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22964562">Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janner M,
|
||
Flück CE,
|
||
Mullis PE</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2012;78(4):261-8.
|
||
Epub 2012 Sep 6
|
||
doi: 10.1159/000341585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22964562" target="_blank">22964562</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2246%2CXX%20sex%20reversal%204%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36064700">Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei J,
|
||
Liu C,
|
||
Zhang M,
|
||
Liu S,
|
||
Fu J,
|
||
Lin P</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2022 Sep 5;15(1):188.
|
||
doi: 10.1186/s12920-022-01347-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36064700" target="_blank">36064700</a><a href="/pmc/articles/PMC9446824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29151085">A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Orekhova AS,
|
||
Kalinchenko N,
|
||
Morozov IA,
|
||
Vasilyev EV,
|
||
Rubtsov PM,
|
||
Dedov II,
|
||
Tiulpakov A</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2018;89(6):450-454.
|
||
Epub 2017 Nov 17
|
||
doi: 10.1159/000481776.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29151085" target="_blank">29151085</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26688428">Efficacy of Fibroblast Growth Factor on Epithelialization of the Neovagina in Patients with Mayer-Rokitansky-Küster-Hauser Syndrome Who Underwent Vaginoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagata T,
|
||
Kawano A,
|
||
Koyama M,
|
||
Nakamura T,
|
||
Hirahara F,
|
||
Nakajima T,
|
||
Sato T,
|
||
Sakakibara H</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2017 Jun;30(3):400-404.
|
||
Epub 2015 Dec 11
|
||
doi: 10.1016/j.jpag.2015.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26688428" target="_blank">26688428</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22964562">Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janner M,
|
||
Flück CE,
|
||
Mullis PE</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2012;78(4):261-8.
|
||
Epub 2012 Sep 6
|
||
doi: 10.1159/000341585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22964562" target="_blank">22964562</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12364433">Prenatal diagnosis of sex differentiation disorders: the role of fetal ultrasound.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinhas-Hamiel O,
|
||
Zalel Y,
|
||
Smith E,
|
||
Mazkereth R,
|
||
Aviram A,
|
||
Lipitz S,
|
||
Achiron R</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2002 Oct;87(10):4547-53.
|
||
doi: 10.1210/jc.2001-011034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12364433" target="_blank">12364433</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2246%2CXX%20sex%20reversal%204%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">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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=C4479552%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C4479552%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C4479552%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4479552%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617480" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=46,XX%20sex%20reversal%204" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(46%2Cxx%20sex%20reversal%204)%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>
|
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|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=184757" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2516[geneid]" target="_blank">View NR5A1 variations in ClinVar</a></li><li><a href="/nuccore/193794848" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=617480" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/46xx_sex_reversal_4" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=46,XX%20sex%20reversal%204" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
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</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301589" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=46,XX%20sex%20reversal%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=46,XX%20sex%20reversal%204%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1373282" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1373282" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4479552[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4479552[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1373282" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1373282" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1373282" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1373282" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=1373282" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1373282" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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