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<meta name="keywords" content="C1848178, female external genitalia in individual with 46,xy karyotype, female external genitalia in males, finding, males with female external genitalia, 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="The presence of female external genitalia in a person with a male karyotype." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=341167
|
||
ConceptID=C1848178
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Female external genitalia in individual with 46,XY karyotype</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341167</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:">C1848178</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Female external genitalia in males</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0008730">HP:0008730</a></td></tr>
|
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</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">The presence of female external genitalia in a person with a male karyotype. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</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>
|
||
<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="TLline">Female external genitalia in individual with 46,XY karyotype</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/155422" ref="tree=MeSH" title="MedGen record for Abnormality of the genital system">Abnormality of the genital system</a></span><ul><li><span class="TLline"><a href="/medgen/866746" ref="tree=MeSH" title="MedGen record for Abnormal reproductive system morphology">Abnormal reproductive system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869392" ref="tree=MeSH" title="MedGen record for Abnormality of the male genitalia">Abnormality of the male genitalia</a></span><ul><li><span class="TLline"><a href="/medgen/871399" ref="tree=MeSH" title="MedGen record for Abnormal male external genitalia morphology">Abnormal male external genitalia morphology</a></span><ul><li><span class="matched_ds">Female external genitalia in individual with 46,XY karyotype</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_21102"><div><strong>Androgen resistance syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21102</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.">C0039585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21102">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120626"><div><strong>Testosterone 17-beta-dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120626</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.">C0268296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HSD17B3 deficiency is an autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization (summary by Lindqvist et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120626">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_21102" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Androgen resistance syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120626" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Testosterone 17-beta-dehydrogenase deficiency</a></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/38715086">Phenotypic variability and management of patients with mosaic monosomy X and Y chromosome material: a case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fredj MB,
|
||
Messaoud M,
|
||
Youssef SB,
|
||
Mani S,
|
||
Laaribi S,
|
||
Sakka R,
|
||
Hmida HB,
|
||
Ksiaa A,
|
||
Mekki M,
|
||
Belghith M,
|
||
Sahnoun L</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2024 May 7;50(1):93.
|
||
doi: 10.1186/s13052-024-01618-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38715086" target="_blank">38715086</a><a href="/pmc/articles/PMC11077738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26182482">Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen MJ,
|
||
Vu BM,
|
||
Axelrad M,
|
||
Dietrich JE,
|
||
Gargollo P,
|
||
Gunn S,
|
||
Macias CG,
|
||
McCullough LB,
|
||
Roth DR,
|
||
Sutton VR,
|
||
Karaviti LP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2015 Jun;12(4):373-87.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26182482" target="_blank">26182482</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22846521">Disorders of sex development: neonatal diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paris F,
|
||
Gaspari L,
|
||
Philibert P,
|
||
Maïmoun L,
|
||
Kalfa N,
|
||
Sultan C</span><br />
|
||
<span class="medgenPMjournal">Endocr Dev</span>
|
||
2012;22:56-71.
|
||
Epub 2012 Jul 25
|
||
doi: 10.1159/000326631.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22846521" target="_blank">22846521</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(female%20external%20genitalia%20in%20individual%20with%2046%2Cxy%20karyotype)%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 (10)</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/38968141">Mixed Gonadal Dysgenesis: A Narrative Literature Review and Clinical Primer for the Urologist.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corona LE,
|
||
Lee VS,
|
||
Weisman AG,
|
||
Rosoklija I,
|
||
Hirsch J,
|
||
Whitehead J,
|
||
Almaghraby A,
|
||
Papadakis J,
|
||
Yuodsnukis B,
|
||
Chen D,
|
||
Finlayson C,
|
||
Yerkes EB,
|
||
Cheng EY,
|
||
Johnson EK</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
2024 Nov;212(5):660-671.
|
||
Epub 2024 Jul 5
|
||
doi: 10.1097/JU.0000000000004137.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38968141" target="_blank">38968141</a></div>
|
||
|
||
<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/38206718">NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei X,
|
||
Li S,
|
||
He Y</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Dec 29;102(52):e36725.
|
||
doi: 10.1097/MD.0000000000036725.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38206718" target="_blank">38206718</a><a href="/pmc/articles/PMC10754607" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36305565">Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karila D,
|
||
Donadille B,
|
||
Léger J,
|
||
Bouvattier C,
|
||
Bachelot A,
|
||
Kerlan V,
|
||
Catteau-Jonard S,
|
||
Salenave S,
|
||
Albarel F,
|
||
Briet C,
|
||
Coutant R,
|
||
Brac De La Perriere A,
|
||
Valent A,
|
||
Siffroi JP,
|
||
Christin-Maitre S</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2022 Dec 1;187(6):873-881.
|
||
Epub 2022 Nov 24
|
||
doi: 10.1530/EJE-22-0593.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36305565" target="_blank">36305565</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26182482">Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen MJ,
|
||
Vu BM,
|
||
Axelrad M,
|
||
Dietrich JE,
|
||
Gargollo P,
|
||
Gunn S,
|
||
Macias CG,
|
||
McCullough LB,
|
||
Roth DR,
|
||
Sutton VR,
|
||
Karaviti LP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2015 Jun;12(4):373-87.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26182482" target="_blank">26182482</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Female%20external%20genitalia%20in%20individual%20with%2046%2CXY%20karyotype%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 (52)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38715086">Phenotypic variability and management of patients with mosaic monosomy X and Y chromosome material: a case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fredj MB,
|
||
Messaoud M,
|
||
Youssef SB,
|
||
Mani S,
|
||
Laaribi S,
|
||
Sakka R,
|
||
Hmida HB,
|
||
Ksiaa A,
|
||
Mekki M,
|
||
Belghith M,
|
||
Sahnoun L</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2024 May 7;50(1):93.
|
||
doi: 10.1186/s13052-024-01618-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38715086" target="_blank">38715086</a><a href="/pmc/articles/PMC11077738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/38206718">NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei X,
|
||
Li S,
|
||
He Y</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Dec 29;102(52):e36725.
|
||
doi: 10.1097/MD.0000000000036725.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38206718" target="_blank">38206718</a><a href="/pmc/articles/PMC10754607" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37300628">Androgen insensitivity syndrome: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delli Paoli E,
|
||
Di Chiano S,
|
||
Paoli D,
|
||
Lenzi A,
|
||
Lombardo F,
|
||
Pallotti F</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2023 Nov;46(11):2237-2245.
|
||
Epub 2023 Jun 10
|
||
doi: 10.1007/s40618-023-02127-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37300628" target="_blank">37300628</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9890065">Abnormalities of gonadal differentiation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berkovitz GD,
|
||
Seeherunvong T</span><br />
|
||
<span class="medgenPMjournal">Baillieres Clin Endocrinol Metab</span>
|
||
1998 Apr;12(1):133-42.
|
||
doi: 10.1016/s0950-351x(98)80512-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9890065" target="_blank">9890065</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Female%20external%20genitalia%20in%20individual%20with%2046%2CXY%20karyotype%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 (118)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32835366">Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ishii T,
|
||
Tajima T,
|
||
Kashimada K,
|
||
Mukai T,
|
||
Tanahashi Y,
|
||
Katsumata N,
|
||
Kanno J,
|
||
Hamajima T,
|
||
Miyako K,
|
||
Ida S,
|
||
Hasegawa T</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Nov 1;105(11)
|
||
doi: 10.1210/clinem/dgaa557.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32835366" target="_blank">32835366</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27934809">Wilms' tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar AS,
|
||
Srilakshmi R,
|
||
Karthickeyan S,
|
||
Balakrishnan K,
|
||
Padmaraj R,
|
||
Senguttuvan P</span><br />
|
||
<span class="medgenPMjournal">Indian J Med Res</span>
|
||
2016 Aug;144(2):276-280.
|
||
doi: 10.4103/0971-5916.195044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27934809" target="_blank">27934809</a><a href="/pmc/articles/PMC5206881" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26182482">Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen MJ,
|
||
Vu BM,
|
||
Axelrad M,
|
||
Dietrich JE,
|
||
Gargollo P,
|
||
Gunn S,
|
||
Macias CG,
|
||
McCullough LB,
|
||
Roth DR,
|
||
Sutton VR,
|
||
Karaviti LP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2015 Jun;12(4):373-87.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26182482" target="_blank">26182482</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23422775">45,X/46,XY mosaicism: a cause of short stature in males.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Efthymiadou A,
|
||
Stefanou EG,
|
||
Chrysis D</span><br />
|
||
<span class="medgenPMjournal">Hormones (Athens)</span>
|
||
2012 Oct-Dec;11(4):501-4.
|
||
doi: 10.14310/horm.2002.1384.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23422775" target="_blank">23422775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5456802">Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">New MI</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
1970 Oct;49(10):1930-41.
|
||
doi: 10.1172/JCI106412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5456802" target="_blank">5456802</a><a href="/pmc/articles/PMC322683" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Female%20external%20genitalia%20in%20individual%20with%2046%2CXY%20karyotype%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36305565">Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karila D,
|
||
Donadille B,
|
||
Léger J,
|
||
Bouvattier C,
|
||
Bachelot A,
|
||
Kerlan V,
|
||
Catteau-Jonard S,
|
||
Salenave S,
|
||
Albarel F,
|
||
Briet C,
|
||
Coutant R,
|
||
Brac De La Perriere A,
|
||
Valent A,
|
||
Siffroi JP,
|
||
Christin-Maitre S</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2022 Dec 1;187(6):873-881.
|
||
Epub 2022 Nov 24
|
||
doi: 10.1530/EJE-22-0593.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36305565" target="_blank">36305565</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30762107">Surgical management of hypospadias in cases with concomitant disorders of sex development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ochi T,
|
||
Ishiyama A,
|
||
Yazaki Y,
|
||
Murakami H,
|
||
Takeda M,
|
||
Seo S,
|
||
Sueyoshi R,
|
||
Lane GJ,
|
||
Haruna H,
|
||
Shimizu T,
|
||
Yamataka A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2019 May;35(5):611-617.
|
||
Epub 2019 Feb 14
|
||
doi: 10.1007/s00383-019-04457-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30762107" target="_blank">30762107</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29973376">Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dumeige L,
|
||
Chatelais L,
|
||
Bouvattier C,
|
||
De Kerdanet M,
|
||
Hyon C,
|
||
Esteva B,
|
||
Samara-Boustani D,
|
||
Zenaty D,
|
||
Nicolino M,
|
||
Baron S,
|
||
Metz-Blond C,
|
||
Naud-Saudreau C,
|
||
Dupuis C,
|
||
Léger J,
|
||
Siffroi JP,
|
||
Donadille B,
|
||
Christin-Maitre S,
|
||
Carel JC,
|
||
Coutant R,
|
||
Martinerie L</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2018 Sep;179(3):181-190.
|
||
Epub 2018 Jul 4
|
||
doi: 10.1530/EJE-18-0309.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29973376" target="_blank">29973376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29157626">Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heeley JM,
|
||
Hollander AS,
|
||
Austin PF,
|
||
Merritt DF,
|
||
Wesevich VG;
|
||
Washington University School of Medicine in St Louis DSD Team,
|
||
Amarillo IE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2018 Apr;14(2):153.e1-153.e7.
|
||
Epub 2017 Nov 20
|
||
doi: 10.1016/j.jpurol.2017.09.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29157626" target="_blank">29157626</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10603151">46,XY gonadal dysgenesis associated with congenital nephrotic syndrome and sepsis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheu JN,
|
||
Chen JH</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
1999 Nov;13(9):927-9.
|
||
doi: 10.1007/s004670050730.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10603151" target="_blank">10603151</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Female%20external%20genitalia%20in%20individual%20with%2046%2CXY%20karyotype%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 (18)</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/36305565">Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karila D,
|
||
Donadille B,
|
||
Léger J,
|
||
Bouvattier C,
|
||
Bachelot A,
|
||
Kerlan V,
|
||
Catteau-Jonard S,
|
||
Salenave S,
|
||
Albarel F,
|
||
Briet C,
|
||
Coutant R,
|
||
Brac De La Perriere A,
|
||
Valent A,
|
||
Siffroi JP,
|
||
Christin-Maitre S</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2022 Dec 1;187(6):873-881.
|
||
Epub 2022 Nov 24
|
||
doi: 10.1530/EJE-22-0593.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36305565" target="_blank">36305565</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29973376">Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dumeige L,
|
||
Chatelais L,
|
||
Bouvattier C,
|
||
De Kerdanet M,
|
||
Hyon C,
|
||
Esteva B,
|
||
Samara-Boustani D,
|
||
Zenaty D,
|
||
Nicolino M,
|
||
Baron S,
|
||
Metz-Blond C,
|
||
Naud-Saudreau C,
|
||
Dupuis C,
|
||
Léger J,
|
||
Siffroi JP,
|
||
Donadille B,
|
||
Christin-Maitre S,
|
||
Carel JC,
|
||
Coutant R,
|
||
Martinerie L</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2018 Sep;179(3):181-190.
|
||
Epub 2018 Jul 4
|
||
doi: 10.1530/EJE-18-0309.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29973376" target="_blank">29973376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26935236">Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Juniarto AZ,
|
||
van der Zwan YG,
|
||
Santosa A,
|
||
Ariani MD,
|
||
Eggers S,
|
||
Hersmus R,
|
||
Themmen AP,
|
||
Bruggenwirth HT,
|
||
Wolffenbuttel KP,
|
||
Sinclair A,
|
||
White SJ,
|
||
Looijenga LH,
|
||
de Jong FH,
|
||
Faradz SM,
|
||
Drop SL</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2016 Aug;85(2):247-57.
|
||
Epub 2016 Apr 4
|
||
doi: 10.1111/cen.13051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26935236" target="_blank">26935236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12476449">46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Caignec C,
|
||
Baron S,
|
||
McElreavey K,
|
||
Joubert M,
|
||
Rival JM,
|
||
Mechinaud F,
|
||
David A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2003 Jan 1;116A(1):37-43.
|
||
doi: 10.1002/ajmg.a.10820.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12476449" target="_blank">12476449</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Female%20external%20genitalia%20in%20individual%20with%2046%2CXY%20karyotype%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 (25)</a></div></div>
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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