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<meta name="keywords" content="C0268301, androgen insensitivities, partial, androgen insensitivity syndrome, partial, androgen insensitivity, partial, androgen insensitivity, partial, with or without breast cancer, androgen insensitivity, partial, with or without breast cancer, x-linked recessive, androgen resistance syndrome, partial, androgen-insensitivity syndrome, partial, androgen-insensitivity syndromes, partial, ar, disease or syndrome, familial incomplete male pseudohermaphroditism type 1, familial incomplete male pseudohermaphroditism, type 1, gynecomastia, familial, incomplete male pseudohermaphroditism, insensitivities, partial androgen, insensitivity, partial androgen, pais, pais - partial androgen insensitivity syndrome, partial androgen insensitivities, partial androgen insensitivity, partial androgen insensitivity syndrome, partial androgen resistance syndrome, partial androgen-insensitivity syndrome, partial androgen-insensitivity syndromes, pseudohermaphroditism, incomplete male, type i, reifenstein syndrome, reifenstein syndrome, partial, reifenstein's syndrome, reifensteins syndrome, type i familial incomplete male pseudohermaphroditism, 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="Individuals with androgen insensitivity have a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. The phenotype in PAIS varies depending on residual androgen receptor function, ranging from severe undermasculinization presenting as female-like external genitalia to male-appearing genitalia. The typical presentation comprises micropenis, severe hypospadias, and bifid scrotum with or without cryptorchidism (summary by Mongan et al., 2015)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=82785
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ConceptID=C0268301
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Partial androgen insensitivity syndrome<span class="h1sub">(PAIS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82785</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.">C0268301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER; Androgen resistance syndrome, partial; Gynecomastia, familial; PAIS; Pseudohermaphroditism, Incomplete male, type I; Reifenstein syndrome; Reifenstein syndrome, partial; Type I familial incomplete male pseudohermaphroditism</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Partial androgen insensitivity syndrome (122811000119101); Reifenstein syndrome (122811000119101); Familial incomplete male pseudohermaphroditism type 1 (122811000119101); PAIS - partial androgen insensitivity syndrome (122811000119101); Partial androgen resistance syndrome (122811000119101)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="AR - ID: 367 - NCBI Gene" href="/gene/367" class="medgenPMinfo">AR</a> (Xq12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010720" target="_blank">MONDO:0010720</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/312300" target="_blank">312300</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=90797">ORPHA90797</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Individuals with androgen insensitivity have a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. The phenotype in PAIS varies depending on residual androgen receptor function, ranging from severe undermasculinization presenting as female-like external genitalia to male-appearing genitalia. The typical presentation comprises micropenis, severe hypospadias, and bifid scrotum with or without cryptorchidism (summary by Mongan et al., 2015). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />People with mild androgen insensitivity are born with male-typical sex characteristics, but they are often infertile and tend to experience breast enlargement at puberty.<br /><br />People with partial androgen insensitivity can have genitalia that look typical for females, genitalia that have both male and female characteristics, or genitalia that look typical for males. <br /><br />The partial and mild forms of androgen insensitivity syndrome occur when the body's tissues are partially sensitive to the effects of androgens. <br /><br />Complete androgen insensitivity syndrome occurs when the body does not respond to androgens at all. People with this form of the condition have external sex characteristics that are typical of females. Affected individuals do not have a uterus. They have male internal sex organs (testes) that are undescended, which means they are located in the pelvis or abdomen instead of outside the body. As such, affected individuals do not menstruate and are unable to conceive a child (infertile). People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms.<br /><br />There are three forms of androgen insensitivity syndrome: complete, partial, and mild.<br /><br />Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition have one X chromosome and one Y chromosome in each cell. In people with androgen insensitivity syndrome, the body's cells and tissues are unable to respond to certain male sex hormones (called androgens) that are important for normal male sexual development before birth and during puberty. As a result, affected individuals may have external sex characteristics that are typical for females or have features of both male and female sexual development. <a target="_blank" href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome">https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome</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_2150"><div><strong>Azoospermia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2150</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.">C0004509</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2150">Feature record</a> | <a href="/medgen?term=%22Azoospermia%22%5BClinical%20Features%5D%20OR%202150%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43876"><div><strong>Infertility disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43876</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.">C0021359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43876">Feature record</a> | <a href="/medgen?term=%22Infertility%20disorder%22%5BClinical%20Features%5D%20OR%2043876%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68666"><div><strong>Male pseudohermaphroditism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68666</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.">C0238395</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68666">Feature record</a> | <a href="/medgen?term=%22Male%20pseudohermaphroditism%22%5BClinical%20Features%5D%20OR%2068666%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_539922"><div><strong>Absent vas deferens</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>539922</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.">C0266444</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aplasia (congenital absence) of the vas deferens.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/539922">Feature record</a> | <a href="/medgen?term=%22Absent%20vas%20deferens%22%5BClinical%20Features%5D%20OR%20539922%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_90968"><div><strong>Bifid scrotum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90968</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0341787</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Midline indentation or cleft of the scrotum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90968">Feature record</a> | <a href="/medgen?term=%22Bifid%20scrotum%22%5BClinical%20Features%5D%20OR%2090968%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105292"><div><strong>Perineal hypospadias</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105292</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0452148</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypospadias with location of the urethral meatus in the perineal region.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105292">Feature record</a> | <a href="/medgen?term=%22Perineal%20hypospadias%22%5BClinical%20Features%5D%20OR%20105292%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1633603"><div><strong>Micropenis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633603</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1633603">Feature record</a> | <a href="/medgen?term=%22Micropenis%22%5BClinical%20Features%5D%20OR%201633603%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871275"><div><strong>Abnormal rib cage morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871275</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.">C4025763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A morphological anomaly of the rib cage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871275">Feature record</a> | <a href="/medgen?term=%22Abnormal%20rib%20cage%20morphology%22%5BClinical%20Features%5D%20OR%20871275%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5711"><div><strong>Hypogonadism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5711</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.">C0020619</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased functionality of the gonad.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5711">Feature record</a> | <a href="/medgen?term=%22Hypogonadism%22%5BClinical%20Features%5D%20OR%205711%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6694"><div><strong>Gynecomastia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6694</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.">C0018418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal development of large mammary glands in males resulting in breast enlargement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6694">Feature record</a> | <a href="/medgen?term=%22Gynecomastia%22%5BClinical%20Features%5D%20OR%206694%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the breast</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gynecomastia</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypogonadism</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_539922" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent vas deferens</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Azoospermia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid scrotum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infertility disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Male pseudohermaphroditism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1633603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micropenis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perineal hypospadias</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal rib cage morphology</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0039585[DISCUI]&test_type=Clinical" ref="ncbi_uid=21102">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=21102" target="_blank" href="/omim/300068">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1429/" ref="ncbi_uid=21102">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=21102" ref="ncbi_uid=21102">V</a></span></span><span class="TLline"><a href="/medgen/21102" ref="tree=GTR&ncbi_uid=21102&link_uid=21102" title="View MedGen record for 'Androgen resistance syndrome'">Androgen resistance syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5547981[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1788327">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1788327" ref="tree=GTR&ncbi_uid=1788327&link_uid=1788327" title="View MedGen record for 'Androgen insensitivity syndrome, mild'">Androgen insensitivity syndrome, mild</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0936016[DISCUI]&test_type=Clinical" ref="ncbi_uid=183188">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=183188" target="_blank" href="/omim/313700">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=183188" ref="ncbi_uid=183188">V</a></span></span><span class="TLline"><a href="/medgen/183188" ref="tree=GTR&ncbi_uid=183188&link_uid=183188" title="View MedGen record for 'Complete androgen insensitivity syndrome'">Complete androgen insensitivity syndrome</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268301[DISCUI]&test_type=Clinical" ref="ncbi_uid=82785">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82785" target="_blank" href="/omim/312300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82785" ref="ncbi_uid=82785">V</a></span></span><span class="TLline">Partial androgen insensitivity syndrome</span></li></ul></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/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="TLline"><a href="/medgen/414114" ref="tree=MeSH" title="MedGen record for 46,XY disorder of sex development">46,XY disorder of sex development</a></span><ul><li><span class="TLline"><a href="/medgen/21102" ref="tree=MeSH" title="MedGen record for Androgen resistance syndrome">Androgen resistance syndrome</a></span><ul><li><span class="matched_ds">Partial androgen insensitivity syndrome</span></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=12100&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Partial androgen insensitivity syndrome</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/15992898">Tissue expansion in management of failed phallic reconstruction: initial report of clinical series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathews R,
|
||
Nelson CP,
|
||
Gearhart JP,
|
||
Vander Kolk CA</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2005 Jul;66(1):180-4.
|
||
doi: 10.1016/j.urology.2005.01.063.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15992898" target="_blank">15992898</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15963062">Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deeb A,
|
||
Mason C,
|
||
Lee YS,
|
||
Hughes IA</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2005 Jul;63(1):56-62.
|
||
doi: 10.1111/j.1365-2265.2005.02298.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15963062" target="_blank">15963062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7910529">Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lobaccaro JM,
|
||
Belon C,
|
||
Lumbroso S,
|
||
Olewniczack G,
|
||
Carré-Pigeon F,
|
||
Job JC,
|
||
Chaussain JL,
|
||
Toublanc JE,
|
||
Sultan C</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
1994 Mar;40(3):297-302.
|
||
doi: 10.1111/j.1365-2265.1994.tb03922.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7910529" target="_blank">7910529</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22partial%20androgen%20insensitivity%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36917969">Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guaragna-Filho G,
|
||
Guerra-Junior G,
|
||
Tadokoro-Cuccaro R,
|
||
Hughes IA,
|
||
Barros BA,
|
||
Hiort O,
|
||
Balsamo A,
|
||
Guran T,
|
||
Holterhus PM,
|
||
Hannema S,
|
||
Poyrazoglu S,
|
||
Darendeliler F,
|
||
Bryce J,
|
||
Ahmed SF,
|
||
Quigley CA</span><br />
|
||
<span class="medgenPMjournal">Sex Dev</span>
|
||
2023;17(1):16-25.
|
||
Epub 2023 Mar 14
|
||
doi: 10.1159/000526997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36917969" target="_blank">36917969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34196232">Disorders of sex development and female reproductive capacity: A literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hosseinirad H,
|
||
Yadegari P,
|
||
Mohanazadeh Falahieh F,
|
||
Nouraei S,
|
||
Paktinat S,
|
||
Afsharzadeh N,
|
||
Sadeghi Y</span><br />
|
||
<span class="medgenPMjournal">Syst Biol Reprod Med</span>
|
||
2021 Oct;67(5):323-336.
|
||
Epub 2021 Jul 1
|
||
doi: 10.1080/19396368.2021.1937376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34196232" target="_blank">34196232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32345305">Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Q,
|
||
Yin X,
|
||
Li P</span><br />
|
||
<span class="medgenPMjournal">Reprod Biol Endocrinol</span>
|
||
2020 Apr 28;18(1):34.
|
||
doi: 10.1186/s12958-020-00593-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32345305" target="_blank">32345305</a><a href="/pmc/articles/PMC7187512" target="_blank" class="PubMedFree">Free PMC Article</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/23044881">Androgen insensitivity syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes IA,
|
||
Werner R,
|
||
Bunch T,
|
||
Hiort O</span><br />
|
||
<span class="medgenPMjournal">Semin Reprod Med</span>
|
||
2012 Oct;30(5):432-42.
|
||
Epub 2012 Oct 8
|
||
doi: 10.1055/s-0032-1324728.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23044881" target="_blank">23044881</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Partial%20androgen%20insensitivity%20syndrome%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 (61)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/23044881">Androgen insensitivity syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes IA,
|
||
Werner R,
|
||
Bunch T,
|
||
Hiort O</span><br />
|
||
<span class="medgenPMjournal">Semin Reprod Med</span>
|
||
2012 Oct;30(5):432-42.
|
||
Epub 2012 Oct 8
|
||
doi: 10.1055/s-0032-1324728.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23044881" target="_blank">23044881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22260757">Prenatal diagnosis of partial androgen insensitivity syndrome by means of a 4-D ultrasound technique.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Onderoğlu LS,
|
||
Başaran D,
|
||
Ozyüncü O,
|
||
Kara O</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Can</span>
|
||
2012 Jan;34(1):9.
|
||
doi: 10.1016/s1701-2163(16)35125-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22260757" target="_blank">22260757</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12428202">Disorders of androgen action.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sultan C,
|
||
Lumbroso S,
|
||
Paris F,
|
||
Jeandel C,
|
||
Terouanne B,
|
||
Belon C,
|
||
Audran F,
|
||
Poujol N,
|
||
Georget V,
|
||
Gobinet J,
|
||
Jalaguier S,
|
||
Auzou G,
|
||
Nicolas JC</span><br />
|
||
<span class="medgenPMjournal">Semin Reprod Med</span>
|
||
2002 Aug;20(3):217-28.
|
||
doi: 10.1055/s-2002-35386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12428202" target="_blank">12428202</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3959303">Diagnosis of the partial androgen insensitivity syndrome during infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee PA,
|
||
Brown TR,
|
||
LaTorre HA</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1986 Apr 25;255(16):2207-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3959303" target="_blank">3959303</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Partial%20androgen%20insensitivity%20syndrome%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 (85)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31509845">Gonadal Tissue Cryopreservation for Children with Differences of Sex Development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson EK,
|
||
Finlayson C,
|
||
Finney EL,
|
||
Harris CJ,
|
||
Tan SY,
|
||
Laronda MM,
|
||
Lockart BA,
|
||
Chen D,
|
||
Rowell EE,
|
||
Cheng EY,
|
||
Yerkes EB</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2019;92(2):84-91.
|
||
Epub 2019 Sep 11
|
||
doi: 10.1159/000502644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31509845" target="_blank">31509845</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30336477">Management of Gonads in Adults with Androgen Insensitivity: An International Survey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tack LJW,
|
||
Maris E,
|
||
Looijenga LHJ,
|
||
Hannema SE,
|
||
Audi L,
|
||
Köhler B,
|
||
Holterhus PM,
|
||
Riedl S,
|
||
Wisniewski A,
|
||
Flück CE,
|
||
Davies JH,
|
||
T'Sjoen G,
|
||
Lucas-Herald AK,
|
||
Evliyaoglu O,
|
||
Krone N,
|
||
Iotova V,
|
||
Marginean O,
|
||
Balsamo A,
|
||
Verkauskas G,
|
||
Weintrob N,
|
||
Ellaithi M,
|
||
Nordenström A,
|
||
Verrijn Stuart A,
|
||
Kluivers KB,
|
||
Wolffenbuttel KP,
|
||
Ahmed SF,
|
||
Cools M</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2018;90(4):236-246.
|
||
Epub 2018 Oct 18
|
||
doi: 10.1159/000493645.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30336477" target="_blank">30336477</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21788424">'Idiopathic' partial androgen insensitivity syndrome in 28 newborn and infant males: impact of prenatal exposure to environmental endocrine disruptor chemicals?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaspari L,
|
||
Paris F,
|
||
Philibert P,
|
||
Audran F,
|
||
Orsini M,
|
||
Servant N,
|
||
Maïmoun L,
|
||
Kalfa N,
|
||
Sultan C</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2011 Oct;165(4):579-87.
|
||
Epub 2011 Jul 25
|
||
doi: 10.1530/EJE-11-0580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21788424" target="_blank">21788424</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10932967">The child with micropenis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menon PS,
|
||
Khatwa UA</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2000 Jun;67(6):455-60.
|
||
doi: 10.1007/BF02859468.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10932967" target="_blank">10932967</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7441936">Micropenis. III. Primary hypogonadism, partial androgen insensitivity syndrome, and idiopathic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee PA,
|
||
Danish RK,
|
||
Mazur T,
|
||
Migeon CJ</span><br />
|
||
<span class="medgenPMjournal">Johns Hopkins Med J</span>
|
||
1980 Nov;147(5):175-81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7441936" target="_blank">7441936</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Partial%20androgen%20insensitivity%20syndrome%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 (21)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38530023">A case of mild partial androgen insensitivity syndrome in a juvenile boy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang F,
|
||
Shao S,
|
||
He W,
|
||
Hu S</span><br />
|
||
<span class="medgenPMjournal">J Int Med Res</span>
|
||
2024 Mar;52(3):3000605241232520.
|
||
doi: 10.1177/03000605241232520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38530023" target="_blank">38530023</a><a href="/pmc/articles/PMC10967001" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34689141">Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar A,
|
||
Sharma R,
|
||
Faruq M,
|
||
Kumar M,
|
||
Sharma S,
|
||
Werner R,
|
||
Hiort O,
|
||
Vandana J</span><br />
|
||
<span class="medgenPMjournal">Sex Dev</span>
|
||
2022;16(1):34-45.
|
||
Epub 2021 Oct 22
|
||
doi: 10.1159/000519047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34689141" target="_blank">34689141</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30316867">Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lek N,
|
||
Tadokoro-Cuccaro R,
|
||
Whitchurch JB,
|
||
Mazumder B,
|
||
Miles H,
|
||
Prentice P,
|
||
Bunch T,
|
||
Zielińska K,
|
||
Metzler V,
|
||
Mongan NP,
|
||
Heery DM,
|
||
Hughes IA</span><br />
|
||
<span class="medgenPMjournal">EBioMedicine</span>
|
||
2018 Oct;36:401-409.
|
||
Epub 2018 Oct 11
|
||
doi: 10.1016/j.ebiom.2018.09.047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30316867" target="_blank">30316867</a><a href="/pmc/articles/PMC6197786" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16010464">Gender dysphoria and gender change in androgen insensitivity or micropenis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazur T</span><br />
|
||
<span class="medgenPMjournal">Arch Sex Behav</span>
|
||
2005 Aug;34(4):411-21.
|
||
doi: 10.1007/s10508-005-4341-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16010464" target="_blank">16010464</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10932967">The child with micropenis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menon PS,
|
||
Khatwa UA</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2000 Jun;67(6):455-60.
|
||
doi: 10.1007/BF02859468.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10932967" target="_blank">10932967</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Partial%20androgen%20insensitivity%20syndrome%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 (26)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38530023">A case of mild partial androgen insensitivity syndrome in a juvenile boy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang F,
|
||
Shao S,
|
||
He W,
|
||
Hu S</span><br />
|
||
<span class="medgenPMjournal">J Int Med Res</span>
|
||
2024 Mar;52(3):3000605241232520.
|
||
doi: 10.1177/03000605241232520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38530023" target="_blank">38530023</a><a href="/pmc/articles/PMC10967001" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36917969">Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guaragna-Filho G,
|
||
Guerra-Junior G,
|
||
Tadokoro-Cuccaro R,
|
||
Hughes IA,
|
||
Barros BA,
|
||
Hiort O,
|
||
Balsamo A,
|
||
Guran T,
|
||
Holterhus PM,
|
||
Hannema S,
|
||
Poyrazoglu S,
|
||
Darendeliler F,
|
||
Bryce J,
|
||
Ahmed SF,
|
||
Quigley CA</span><br />
|
||
<span class="medgenPMjournal">Sex Dev</span>
|
||
2023;17(1):16-25.
|
||
Epub 2023 Mar 14
|
||
doi: 10.1159/000526997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36917969" target="_blank">36917969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35974208">Clinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Q,
|
||
Yin X,
|
||
Li P</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2023 Jan;46(1):151-158.
|
||
Epub 2022 Aug 16
|
||
doi: 10.1007/s40618-022-01894-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35974208" target="_blank">35974208</a><a href="/pmc/articles/PMC9829593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34689141">Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar A,
|
||
Sharma R,
|
||
Faruq M,
|
||
Kumar M,
|
||
Sharma S,
|
||
Werner R,
|
||
Hiort O,
|
||
Vandana J</span><br />
|
||
<span class="medgenPMjournal">Sex Dev</span>
|
||
2022;16(1):34-45.
|
||
Epub 2021 Oct 22
|
||
doi: 10.1159/000519047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34689141" target="_blank">34689141</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16010464">Gender dysphoria and gender change in androgen insensitivity or micropenis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazur T</span><br />
|
||
<span class="medgenPMjournal">Arch Sex Behav</span>
|
||
2005 Aug;34(4):411-21.
|
||
doi: 10.1007/s10508-005-4341-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16010464" target="_blank">16010464</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Partial%20androgen%20insensitivity%20syndrome%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 (43)</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/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/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=%22Partial%20androgen%20insensitivity%20syndrome%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 (2)</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">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_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=C0268301%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268301%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268301%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268301%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268301%5bDISCUI%5d" target="_blank">See all (31)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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=312300" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=90797" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Partial%20androgen%20insensitivity%20syndrome" 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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22partial%20androgen%20insensitivity%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Partial%20androgen%20insensitivity%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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||
</div>
|
||
|
||
<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=313700" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=367[geneid]" target="_blank">View AR variations in ClinVar</a></li><li><a href="/nuccore/213385253" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=312300" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<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="http://www.diseaseinfosearch.org/Androgen+Insensitivity+Syndrome%2C+Partial/438" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/androgen_insensitivity_partial" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Partial%20androgen%20insensitivity%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5692/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<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>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Partial%20androgen%20insensitivity%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Partial%20androgen%20insensitivity%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" 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=82785" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=82785" ref="log$=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=C0268301[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0268301[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=82785" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=82785" ref="log$=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=82785" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=82785" ref="log$=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=82785" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=82785" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
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<div class="action">
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<li>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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||
</li>
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<li>
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||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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||
</li>
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||
</ul>
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||
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||
</div>
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