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<meta name="keywords" content="C0238395, congenital abnormality, male pseudohermaphroditism, male pseudohermaphroditisms, merms, pseudohermaphroditism, male, pseudohermaphroditisms, male, 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Male pseudohermaphroditism (Concept Id: C0238395)
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<!--
UID=68666
ConceptID=C0238395
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Male pseudohermaphroditism</div></h1><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)&#10;Click for more information."><span class="highlight" style="background-color:">C0238395</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Male Pseudohermaphroditism; Male Pseudohermaphroditisms; Pseudohermaphroditism, Male; Pseudohermaphroditisms, Male</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Male pseudohermaphroditism (111332007); Merms (111332007)</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:0000037">HP:0000037</a></td></tr>
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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">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. [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 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></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0238395[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=68666">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=68666" ref="ncbi_uid=68666">V</a></span></span><span class="TLline">Male pseudohermaphroditism</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">Male pseudohermaphroditism</span><ul><li><span class="TLline"><a href="/medgen/870209" ref="tree=MeSH" title="MedGen record for Incomplete male pseudohermaphroditism">Incomplete male pseudohermaphroditism</a></span></li></ul></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_82782"><div><strong>Deficiency of steroid 17-alpha-monooxygenase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82782</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)&#10;Click for more information.">C0268285</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">17 alpha(a)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17a-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17a-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation.\n\nHormone imbalances lead to the characteristic signs and symptoms of 17a-hydroxylase/17,20-lyase deficiency, which include high blood pressure (hypertension), low levels of potassium in the blood (hypokalemia), and abnormal sexual development. The severity of the features varies. Two forms of the condition are recognized: complete 17a-hydroxylase/17,20-lyase deficiency, which is more severe, and partial 17a-hydroxylase/17,20-lyase deficiency, which is typically less so.\n\nMales and females are affected by disruptions to sexual development differently. Females (who have two X chromosomes) with 17a-hydroxylase/17,20-lyase deficiency are born with normal external female genitalia; however, the internal reproductive organs, including the uterus and ovaries, may be underdeveloped. Women with complete 17a-hydroxylase/17,20-lyase deficiency do not develop secondary sex characteristics, such as breasts and pubic hair, and do not menstruate (amenorrhea). Women with partial 17a-hydroxylase/17,20-lyase deficiency may develop some secondary sex characteristics; menstruation is typically irregular or absent. Either form of the disorder results in an inability to conceive a baby (infertility).\n\nIn affected individuals who are chromosomally male (having an X and a Y chromosome), problems with sexual development lead to abnormalities of the external genitalia. The most severely affected are born with characteristically female external genitalia and are generally raised as females. However, because they do not have female internal reproductive organs, these individuals have amenorrhea and do not develop female secondary sex characteristics. These individuals have testes, but they are abnormally located in the abdomen (undescended). Sometimes, complete 17a-hydroxylase/17,20-lyase deficiency leads to external genitalia that do not look clearly male or clearly female. Males with partial 17a-hydroxylase/17,20-lyase deficiency may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Males with either complete or partial 17a-hydroxylase/17,20-lyase deficiency are also infertile.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82782">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)&#10;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="divPopper rprt" id="rdis_82785"><div><strong>Partial androgen insensitivity syndrome</strong><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)&#10;Click for more information.">C0268301</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">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).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82785">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_452446"><div><strong>3 beta-Hydroxysteroid dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452446</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)&#10;Click for more information.">C0342471</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/452446">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_181980"><div><strong>Drash syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>181980</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)&#10;Click for more information.">C0950121</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/181980">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_215533"><div><strong>Frasier syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>215533</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)&#10;Click for more information.">C0950122</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/215533">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_373234"><div><strong>Meacham syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373234</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)&#10;Click for more information.">C1837026</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373234">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_333149"><div><strong>Chondrodysplasia-pseudohermaphroditism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333149</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)&#10;Click for more information.">C1838654</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nivelon-Nivelon-Mabille syndrome (NNMS) is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia (Abdel-Salam et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333149">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_333416"><div><strong>46,XY disorder of sex development due to testicular 17,20-desmolase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333416</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)&#10;Click for more information.">C1839840</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333416">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_412662"><div><strong>46,XY sex reversal 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412662</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)&#10;Click for more information.">C2748896</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/412662">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_925090"><div><strong>Methemoglobinemia type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>925090</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)&#10;Click for more information.">C4285231</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Methemoglobinemia and ambiguous genitalia (METAG) is due to isolated 17,20-lyase deficiency, defined by apparently normal 17-alpha-hydroxylase activity but severely reduced 17,20-lyase activity of the CYP17A1 enzyme (609300), which results in sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve. The clinical phenotype is characterized by male undermasculinization, with absent or disturbed pubertal development in both 46,XY and 46,XX individuals. Mild to severe methemoglobinemia has been reported in these patients (Idkowiak et al., 2012).&#13; Other autosomal recessive methemoglobinemias include types I and II (see 250800), caused by mutation in the CYB5R3 gene (613213). Isolated 17,20-lyase deficiency can also be caused by mutation in the CYP17A1 gene (609300), and mutation in the POR gene can manifest clinically as isolated 17,20-lyase deficiency (see 124015.0016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/925090">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_452446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3 beta-Hydroxysteroid dehydrogenase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XY disorder of sex development due to testicular 17,20-desmolase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412662" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XY sex reversal 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chondrodysplasia-pseudohermaphroditism syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82782" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of steroid 17-alpha-monooxygenase</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_181980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Drash syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_215533" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frasier syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meacham syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_925090" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methemoglobinemia type 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Partial androgen insensitivity 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></span></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/15846569">Evaluation and management of the abnormal gonad.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bidarkar SS,
Hutson JM</span><br />
<span class="medgenPMjournal">Semin Pediatr Surg</span>
2005 May;14(2):118-23.
doi: 10.1053/j.sempedsurg.2005.01.008.
<span class="bold">PMID: </span><a href="/pubmed/15846569" target="_blank">15846569</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1292987">Male pseudohermaphroditism: clinical management, diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes IA,
Williams DM,
Batch JA,
Patterson MN</span><br />
<span class="medgenPMjournal">Horm Res</span>
1992;38 Suppl 2:77-81.
doi: 10.1159/000182604.
<span class="bold">PMID: </span><a href="/pubmed/1292987" target="_blank">1292987</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5801503">A case of adult male pseudohermaphroditism: the problems of diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jelinek VM,
Garson OM</span><br />
<span class="medgenPMjournal">Med J Aust</span>
1969 Jul 19;2(3):150-3.
doi: 10.5694/j.1326-5377.1969.tb105665.x.
<span class="bold">PMID: </span><a href="/pubmed/5801503" target="_blank">5801503</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22male%20pseudohermaphroditism%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 (11)</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/21853939">Frasier syndrome in 17-year-old girl--case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Matuszczak E,
Debek W,
Chomczyk I</span><br />
<span class="medgenPMjournal">Ginekol Pol</span>
2011 Jun;82(6):468-70.
<span class="bold">PMID: </span><a href="/pubmed/21853939" target="_blank">21853939</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15758579">Denys-Drash syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kucinskas L,
Rudaitis S,
Pundziene B,
Just W</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2005;41(2):132-4.
<span class="bold">PMID: </span><a href="/pubmed/15758579" target="_blank">15758579</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10771866">Familial male pseudohermaphroditism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ammini AC,
Sharma DC,
Gupta R,
Mohapatra I,
Kucheria K,
Kriplani A,
Takkar D,
Mitra DK,
Vijayaraghavan M</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
1997 May-Jun;64(3):419-23.
doi: 10.1007/BF02845218.
<span class="bold">PMID: </span><a href="/pubmed/10771866" target="_blank">10771866</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8734448">Gonadotrophin receptors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Clayton RN</span><br />
<span class="medgenPMjournal">Baillieres Clin Endocrinol Metab</span>
1996 Jan;10(1):1-8.
doi: 10.1016/s0950-351x(96)80250-3.
<span class="bold">PMID: </span><a href="/pubmed/8734448" target="_blank">8734448</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3521447">Androgen receptors and partial androgen insensitivity in male pseudohermaphroditism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sultan C</span><br />
<span class="medgenPMjournal">Ann Genet</span>
1986;29(1):5-10.
<span class="bold">PMID: </span><a href="/pubmed/3521447" target="_blank">3521447</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Male%20pseudohermaphroditism%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 (90)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/25105706">Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nistal M,
Paniagua R,
González-Peramato P,
Reyes-Múgica M</span><br />
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
2015 Jul-Aug;18(4):279-96.
Epub 2014 Aug 8
doi: 10.2350/14-04-1465-PB.1.
<span class="bold">PMID: </span><a href="/pubmed/25105706" target="_blank">25105706</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17161332">Gonadotrophin resistance.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huhtaniemi I,
Alevizaki M</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
2006 Dec;20(4):561-76.
doi: 10.1016/j.beem.2006.09.003.
<span class="bold">PMID: </span><a href="/pubmed/17161332" target="_blank">17161332</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15758579">Denys-Drash syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kucinskas L,
Rudaitis S,
Pundziene B,
Just W</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2005;41(2):132-4.
<span class="bold">PMID: </span><a href="/pubmed/15758579" target="_blank">15758579</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1485188">Male pseudohermaphroditism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kupfer SR,
Quigley CA,
French FS</span><br />
<span class="medgenPMjournal">Semin Perinatol</span>
1992 Oct;16(5):319-31.
<span class="bold">PMID: </span><a href="/pubmed/1485188" target="_blank">1485188</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4616022">Male pseudohermaphroditism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Prader A</span><br />
<span class="medgenPMjournal">Helv Paediatr Acta</span>
1974;Suppl 34:79-86.
<span class="bold">PMID: </span><a href="/pubmed/4616022" target="_blank">4616022</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Male%20pseudohermaphroditism%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 (221)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/24002408">Hirsutism - from diagnosis to use of antiandrogens.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Unluhizarci K,
Karaca Z,
Kelestimur F</span><br />
<span class="medgenPMjournal">Front Horm Res</span>
2013;40:103-14.
Epub 2012 Oct 18
doi: 10.1159/000341822.
<span class="bold">PMID: </span><a href="/pubmed/24002408" target="_blank">24002408</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15844475">17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schwab KO,
Moisan AM,
Homoki J,
Peter M,
Simard J</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2005 Apr;18(4):403-11.
doi: 10.1515/jpem.2005.18.4.403.
<span class="bold">PMID: </span><a href="/pubmed/15844475" target="_blank">15844475</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8857201">Ambiguous genitalia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Anhalt H,
Neely EK,
Hintz RL</span><br />
<span class="medgenPMjournal">Pediatr Rev</span>
1996 Jun;17(6):213-20.
doi: 10.1542/pir.17-6-213.
<span class="bold">PMID: </span><a href="/pubmed/8857201" target="_blank">8857201</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4394269">HCG stimulation test in prepubertal boys with cryptorchidism, in bilateral anorchia and in male pseudohermaphroditism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rivarola MA,
Bergada C,
Cullen M</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
1970 Nov;31(5):526-30.
doi: 10.1210/jcem-31-5-526.
<span class="bold">PMID: </span><a href="/pubmed/4394269" target="_blank">4394269</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5801503">A case of adult male pseudohermaphroditism: the problems of diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jelinek VM,
Garson OM</span><br />
<span class="medgenPMjournal">Med J Aust</span>
1969 Jul 19;2(3):150-3.
doi: 10.5694/j.1326-5377.1969.tb105665.x.
<span class="bold">PMID: </span><a href="/pubmed/5801503" target="_blank">5801503</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Male%20pseudohermaphroditism%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 (43)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/25105706">Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nistal M,
Paniagua R,
González-Peramato P,
Reyes-Múgica M</span><br />
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
2015 Jul-Aug;18(4):279-96.
Epub 2014 Aug 8
doi: 10.2350/14-04-1465-PB.1.
<span class="bold">PMID: </span><a href="/pubmed/25105706" target="_blank">25105706</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20408995">Recurrence of a dysgerminoma in Frasier syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mestrallet G,
Bertholet-Thomas A,
Ranchin B,
Bouvier R,
Frappaz D,
Cochat P</span><br />
<span class="medgenPMjournal">Pediatr Transplant</span>
2011 May;15(3):e53-5.
doi: 10.1111/j.1399-3046.2010.01273.x.
<span class="bold">PMID: </span><a href="/pubmed/20408995" target="_blank">20408995</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15026863">Denys-Drash syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lin HC,
Lin SK,
Wen MC,
Tseng CF,
Fu LS,
Chi CS</span><br />
<span class="medgenPMjournal">J Formos Med Assoc</span>
2004 Jan;103(1):71-4.
<span class="bold">PMID: </span><a href="/pubmed/15026863" target="_blank">15026863</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10771866">Familial male pseudohermaphroditism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ammini AC,
Sharma DC,
Gupta R,
Mohapatra I,
Kucheria K,
Kriplani A,
Takkar D,
Mitra DK,
Vijayaraghavan M</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
1997 May-Jun;64(3):419-23.
doi: 10.1007/BF02845218.
<span class="bold">PMID: </span><a href="/pubmed/10771866" target="_blank">10771866</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8734448">Gonadotrophin receptors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Clayton RN</span><br />
<span class="medgenPMjournal">Baillieres Clin Endocrinol Metab</span>
1996 Jan;10(1):1-8.
doi: 10.1016/s0950-351x(96)80250-3.
<span class="bold">PMID: </span><a href="/pubmed/8734448" target="_blank">8734448</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Male%20pseudohermaphroditism%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 (50)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/25105706">Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nistal M,
Paniagua R,
González-Peramato P,
Reyes-Múgica M</span><br />
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
2015 Jul-Aug;18(4):279-96.
Epub 2014 Aug 8
doi: 10.2350/14-04-1465-PB.1.
<span class="bold">PMID: </span><a href="/pubmed/25105706" target="_blank">25105706</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16927106">WT1 and glomerular diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Niaudet P,
Gubler MC</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2006 Nov;21(11):1653-60.
Epub 2006 Aug 23
doi: 10.1007/s00467-006-0208-1.
<span class="bold">PMID: </span><a href="/pubmed/16927106" target="_blank">16927106</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15844475">17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schwab KO,
Moisan AM,
Homoki J,
Peter M,
Simard J</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2005 Apr;18(4):403-11.
doi: 10.1515/jpem.2005.18.4.403.
<span class="bold">PMID: </span><a href="/pubmed/15844475" target="_blank">15844475</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8734448">Gonadotrophin receptors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Clayton RN</span><br />
<span class="medgenPMjournal">Baillieres Clin Endocrinol Metab</span>
1996 Jan;10(1):1-8.
doi: 10.1016/s0950-351x(96)80250-3.
<span class="bold">PMID: </span><a href="/pubmed/8734448" target="_blank">8734448</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3521447">Androgen receptors and partial androgen insensitivity in male pseudohermaphroditism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sultan C</span><br />
<span class="medgenPMjournal">Ann Genet</span>
1986;29(1):5-10.
<span class="bold">PMID: </span><a href="/pubmed/3521447" target="_blank">3521447</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Male%20pseudohermaphroditism%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 (70)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0238395%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
<li><a href="/gtr/tests?term=C0238395%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
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