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<meta name="keywords" content="3 alpha beta-hsd deficiency, 3 alpha beta-hydroxysteroid dehydrogenase deficiency, 3 alpha beta-hydroxysteroid dehydrogenase, type 2, deficiency of, 3 beta-hsd deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency, 3 beta-ol dehydrogenase deficiency, 3-beta hsd deficiency, 3-beta hydroxysteroid dehydrogenase deficiency, 3-beta-hsd deficiency, 3-beta-hydroxysteroid dehydrogenase deficiency, 3-beta-hydroxysteroid dehydrogenase, type ii, deficiency of, 3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia, 3b-hydroxysteroid dehydrogenase deficiency, 3beta-hsd deficiency, 3beta-hsd deficiency congenital adrenal hyperplasia, 3beta-hydroxysteroid dehydrogenase deficiency, C0342471, adrenal hyperplasia 2, adrenal hyperplasia ii, adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, cah - 3 beta-dehydrogenase deficiency, cah due to 3-beta-hydroxysteroid dehydrogenase deficiency, congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency, congenital adrenal hyperplasia, type 4, disease or syndrome, hsd3b deficiency, hsd3b2, hsdb, hsdb3, type ii 3-beta-hydroxysteroid dehydrogenase deficiency, type ii 3beta-hydroxysteroid dehydrogenase deficiency, 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="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)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>3 beta-Hydroxysteroid dehydrogenase deficiency (Concept Id: C0342471)
- MedGen - NCBI</title>
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<!--
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ConceptID=C0342471
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">3 beta-Hydroxysteroid dehydrogenase deficiency<span class="h1sub">(HSDB)</span></div></h1><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."><span class="highlight" style="background-color:">C0342471</span></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>3-BETA-HSD DEFICIENCY; 3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia; 3b-hydroxysteroid dehydrogenase deficiency; Adrenal hyperplasia 2; ADRENAL HYPERPLASIA II; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency; HSD3B deficiency; Type II 3-beta-hydroxysteroid dehydrogenase deficiency</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>CAH - 3 beta-dehydrogenase deficiency (54470008); 3 beta-Hydroxysteroid dehydrogenase deficiency (54470008); 3 beta-HSD deficiency (54470008); Congenital adrenal hyperplasia, type 4 (54470008)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal 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="HSD3B2 - ID: 3284 - NCBI Gene" href="/gene/3284" class="medgenPMinfo">HSD3B2</a> (1p12)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008727" target="_blank">MONDO:0008727</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/201810" target="_blank">201810</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&amp;Expert=90791">ORPHA90791</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">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). [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">
<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 />3-beta (ß)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones and control salt levels in the body. People with 3ß-HSD deficiency lack many of the hormones that are made in these glands. 3ß-HSD deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development and maturation.<br /><br />There are three types of 3ß-HSD deficiency: the salt-wasting, non-salt-wasting, and non-classic types. In the salt-wasting type, hormone production is extremely low. Individuals with this type lose large amounts of sodium in their urine, which can be life-threatening. Individuals affected with the salt-wasting type are usually diagnosed soon after birth due to complications related to a lack of salt reabsorption, including dehydration, poor feeding, and vomiting. People with the non-salt-wasting type of 3ß-HSD deficiency produce enough hormone to allow sodium reabsorption in the kidneys. Individuals with the non-classic type have the mildest symptoms and do not experience salt wasting.<br /><br />In males with any type of 3ß-HSD deficiency, problems with male sex hormones lead to abnormalities of the external genitalia. These abnormalities range from having the opening of the urethra on the underside of the penis (hypospadias) to having external genitalia that do not look clearly male or female. The severity of the genital abnormality does not consistently depend on the type of the condition. Because of the hormone dysfunction in the testes, males with 3ß-HSD deficiency are frequently unable to have biological children (infertile).<br /><br />Females with 3ß-HSD deficiency may have slight abnormalities of the external genitalia at birth. Females affected with the non-salt-wasting or non-classic types are typically not diagnosed until mid-childhood or puberty, when they may experience irregular menstruation, premature pubic hair growth, and excessive body hair growth (hirsutism). Females with 3ß-HSD deficiency have difficulty conceiving a child (impaired fertility).  <a target="_blank" href="https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency">https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency</a></div></div>
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<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_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)&#10;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_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)&#10;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_66816"><div><strong>Microphallus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66816</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.">C0240701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Length of penis more than 2 SD below the mean for age accompanied by hypospadias.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66816">Feature record</a> | <a href="/medgen?term=%22Microphallus%22%5BClinical%20Features%5D%20OR%2066816%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_78596"><div><strong>Ambiguous genitalia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78596</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0266362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78596">Feature record</a> | <a href="/medgen?term=%22Ambiguous%20genitalia%22%5BClinical%20Features%5D%20OR%2078596%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_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)&#10;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_488897"><div><strong>Absent scrotum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488897</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.">C0426320</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Congenital absence of the scrotum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/488897">Feature record</a> | <a href="/medgen?term=%22Absent%20scrotum%22%5BClinical%20Features%5D%20OR%20488897%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_105291"><div><strong>Penoscrotal hypospadias</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105291</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0452147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/105291">Feature record</a> | <a href="/medgen?term=%22Penoscrotal%20hypospadias%22%5BClinical%20Features%5D%20OR%20105291%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_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)&#10;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_163083"><div><strong>Hypospadias</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163083</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.">C0848558</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163083">Feature record</a> | <a href="/medgen?term=%22Hypospadias%22%5BClinical%20Features%5D%20OR%20163083%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_786371"><div><strong>Scrotal hypospadias</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>786371</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.">C2197691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hypospadias with location of the urethral meatus in the scrotum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/786371">Feature record</a> | <a href="/medgen?term=%22Scrotal%20hypospadias%22%5BClinical%20Features%5D%20OR%20786371%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)&#10;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_5691"><div><strong>Hyperkalemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5691</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.">C0020461</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased potassium concentration in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5691">Feature record</a> | <a href="/medgen?term=%22Hyperkalemia%22%5BClinical%20Features%5D%20OR%205691%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6984"><div><strong>Hyponatremia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6984</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.">C0020625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally decreased sodium concentration in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6984">Feature record</a> | <a href="/medgen?term=%22Hyponatremia%22%5BClinical%20Features%5D%20OR%206984%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1351"><div><strong>Adrenal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1351</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.">C0001623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1351">Feature record</a> | <a href="/medgen?term=%22Adrenal%20insufficiency%22%5BClinical%20Features%5D%20OR%201351%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_575093"><div><strong>Premature pubarche</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>575093</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.">C0342541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The onset of growth of pubic hair at an earlier age than normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/575093">Feature record</a> | <a href="/medgen?term=%22Premature%20pubarche%22%5BClinical%20Features%5D%20OR%20575093%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_301220"><div><strong>Adrenal hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301220</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.">C1621895</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Enlargement of the adrenal gland.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/301220">Feature record</a> | <a href="/medgen?term=%22Adrenal%20hyperplasia%22%5BClinical%20Features%5D%20OR%20301220%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1378460"><div><strong>Impaired cortisol response to corticotropin releasing hormone stimulation test</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1378460</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.">C4476957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1378460">Feature record</a> | <a href="/medgen?term=%22Impaired%20cortisol%20response%20to%20corticotropin%20releasing%20hormone%20stimulation%20test%22%5BClinical%20Features%5D%20OR%201378460%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1613419"><div><strong>Elevated circulating 17-hydroxyprogesterone concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1613419</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.">C4531273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1613419">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%2017-hydroxyprogesterone%20concentration%22%5BClinical%20Features%5D%20OR%201613419%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1788603"><div><strong>Increased circulating 17 hydroxypregnenolone concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788603</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.">C5539825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1788603">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%2017%20hydroxypregnenolone%20concentration%22%5BClinical%20Features%5D%20OR%201788603%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1841988"><div><strong>Increased circulating dehydroepiandrosterone-sulfate concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841988</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.">C5826501</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841988">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20dehydroepiandrosterone-sulfate%20concentration%22%5BClinical%20Features%5D%20OR%201841988%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperkalemia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6984" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyponatremia</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_301220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenal hyperplasia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1351" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenal insufficiency</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1613419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating 17-hydroxyprogesterone concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1378460" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired cortisol response to corticotropin releasing hormone stimulation test</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1788603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating 17 hydroxypregnenolone concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1841988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating dehydroepiandrosterone-sulfate concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_575093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature pubarche</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_488897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent scrotum</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ambiguous genitalia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_163083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypospadias</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_66816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphallus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Penoscrotal hypospadias</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_786371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scrotal hypospadias</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></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=C0014130[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=4043">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/4043" ref="tree=GTR&amp;ncbi_uid=4043&amp;link_uid=4043" title="View MedGen record for 'Disorder of endocrine system'">Disorder of endocrine system</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=C0001627[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=7900">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=7900" ref="ncbi_uid=7900">V</a></span></span><span class="TLline"><a href="/medgen/7900" ref="tree=GTR&amp;ncbi_uid=7900&amp;link_uid=7900" title="View MedGen record for 'Congenital adrenal hyperplasia'">Congenital adrenal hyperplasia</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342471[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=452446">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=452446" target="_blank" href="/omim/201810">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&amp;from_uid=452446" ref="ncbi_uid=452446">V</a></span></span><span class="TLline">3 beta-Hydroxysteroid dehydrogenase deficiency</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2936858[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=424833">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=424833" target="_blank" href="/omim/201910">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1171/" ref="ncbi_uid=424833">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=424833" ref="ncbi_uid=424833">V</a></span></span><span class="TLline"><a href="/medgen/424833" ref="tree=GTR&amp;ncbi_uid=424833&amp;link_uid=424833" title="View MedGen record for 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency'">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</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=C0342474[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=83341">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=83341" target="_blank" href="/omim/201710">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&amp;from_uid=83341" ref="ncbi_uid=83341">V</a></span></span><span class="TLline"><a href="/medgen/83341" ref="tree=GTR&amp;ncbi_uid=83341&amp;link_uid=83341" title="View MedGen record for 'Congenital lipoid adrenal hyperplasia due to STAR deficency'">Congenital lipoid adrenal hyperplasia due to STAR deficency</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=C0268292[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=82783">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82783" target="_blank" href="/omim/202010">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&amp;from_uid=82783" ref="ncbi_uid=82783">V</a></span></span><span class="TLline"><a href="/medgen/82783" ref="tree=GTR&amp;ncbi_uid=82783&amp;link_uid=82783" title="View MedGen record for 'Deficiency of steroid 11-beta-monooxygenase'">Deficiency of steroid 11-beta-monooxygenase</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=C0268285[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=82782">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82782" target="_blank" href="/omim/202110">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&amp;from_uid=82782" ref="ncbi_uid=82782">V</a></span></span><span class="TLline"><a href="/medgen/82782" ref="tree=GTR&amp;ncbi_uid=82782&amp;link_uid=82782" title="View MedGen record for 'Deficiency of steroid 17-alpha-monooxygenase'">Deficiency of steroid 17-alpha-monooxygenase</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843153" ref="tree=MeSH" title="MedGen record for 46,XX disorder of sex development induced by fetal androgens excess">46,XX disorder of sex development induced by fetal androgens excess</a></span><ul><li><span class="matched_ds">3 beta-Hydroxysteroid dehydrogenase deficiency</span></li></ul></li></ul></div></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/35757411">Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ladjouze A,
Donaldson M,
Plotton I,
Djenane N,
Mohammedi K,
Tardy-Guidollet V,
Mallet D,
Boulesnane K,
Bouzerar Z,
Morel Y,
Roucher-Boulez F</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2022;13:867073.
Epub 2022 Jun 10
doi: 10.3389/fendo.2022.867073.
<span class="bold">PMID: </span><a href="/pubmed/35757411" target="_blank">35757411</a><a href="/pmc/articles/PMC9229600" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1832519">Adrenal and ovarian steroid hormone responses to gonadotropin-releasing hormone agonist treatment in polycystic ovary syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gonzalez F,
Hatala DA,
Speroff L</span><br />
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
1991 Sep;165(3):535-45.
doi: 10.1016/0002-9378(91)90280-5.
<span class="bold">PMID: </span><a href="/pubmed/1832519" target="_blank">1832519</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6887889">Diagnosis of homozygosity and heterozygosity in congenital adrenal hyperplasia (CAH) and control of treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Knorr D,
Bidlingmaier F,
Höller W,
Kuhnle U</span><br />
<span class="medgenPMjournal">J Steroid Biochem</span>
1983 Jul;19(1B):645-53.
doi: 10.1016/0022-4731(83)90231-5.
<span class="bold">PMID: </span><a href="/pubmed/6887889" target="_blank">6887889</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%223%20beta-hydroxysteroid%20dehydrogenase%20deficiency%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/38587785">Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ertorer ME,
Anaforoglu I,
Yilmaz N,
Akkus G,
Turgut S,
Unluhizarci K,
Selcukbiricik OS,
Merdin FA,
Karakilic E,
Pehlivan E,
Yorulmaz G,
Gul OO,
Emral R,
Kebapci MN,
Acubucu F,
Tuzun D,
Gorar S,
Topuz E,
Bagir GS,
Genc SD,
Demir K,
Tamer G,
Yaylali G,
Omma T,
Firat SN,
Koc G,
Saygili ES,
Yurekli BS</span><br />
<span class="medgenPMjournal">Endocrine</span>
2024 Aug;85(2):916-925.
Epub 2024 Apr 8
doi: 10.1007/s12020-024-03799-z.
<span class="bold">PMID: </span><a href="/pubmed/38587785" target="_blank">38587785</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35757411">Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ladjouze A,
Donaldson M,
Plotton I,
Djenane N,
Mohammedi K,
Tardy-Guidollet V,
Mallet D,
Boulesnane K,
Bouzerar Z,
Morel Y,
Roucher-Boulez F</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2022;13:867073.
Epub 2022 Jun 10
doi: 10.3389/fendo.2022.867073.
<span class="bold">PMID: </span><a href="/pubmed/35757411" target="_blank">35757411</a><a href="/pmc/articles/PMC9229600" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21623059">Ambiguous genitalia: two decades of experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Jurayyan NA</span><br />
<span class="medgenPMjournal">Ann Saudi Med</span>
2011 May-Jun;31(3):284-8.
doi: 10.4103/0256-4947.81544.
<span class="bold">PMID: </span><a href="/pubmed/21623059" target="_blank">21623059</a><a href="/pmc/articles/PMC3119970" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9880115">Congenital adrenal hyperplasia in pregnancy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garner PR</span><br />
<span class="medgenPMjournal">Semin Perinatol</span>
1998 Dec;22(6):446-56.
doi: 10.1016/s0146-0005(98)80025-6.
<span class="bold">PMID: </span><a href="/pubmed/9880115" target="_blank">9880115</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8456898">3 beta-hydroxysteroid dehydrogenase deficiency in hyperandrogenism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Azziz R,
Bradley EL Jr,
Potter HD,
Boots LR</span><br />
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
1993 Mar;168(3 Pt 1):889-95.
doi: 10.1016/s0002-9378(12)90840-6.
<span class="bold">PMID: </span><a href="/pubmed/8456898" target="_blank">8456898</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223%20beta-Hydroxysteroid%20dehydrogenase%20deficiency%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 (16)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35757411">Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ladjouze A,
Donaldson M,
Plotton I,
Djenane N,
Mohammedi K,
Tardy-Guidollet V,
Mallet D,
Boulesnane K,
Bouzerar Z,
Morel Y,
Roucher-Boulez F</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2022;13:867073.
Epub 2022 Jun 10
doi: 10.3389/fendo.2022.867073.
<span class="bold">PMID: </span><a href="/pubmed/35757411" target="_blank">35757411</a><a href="/pmc/articles/PMC9229600" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11344940">Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pang S</span><br />
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
2001 Mar;30(1):81-99, vi-vii.
doi: 10.1016/s0889-8529(08)70020-3.
<span class="bold">PMID: </span><a href="/pubmed/11344940" target="_blank">11344940</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1623993">Nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency: a review of our experience with 25 female patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schram P,
Zerah M,
Mani P,
Jewelewicz R,
Jaffe S,
New MI</span><br />
<span class="medgenPMjournal">Fertil Steril</span>
1992 Jul;58(1):129-36.
<span class="bold">PMID: </span><a href="/pubmed/1623993" target="_blank">1623993</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3160950">Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3-beta-hydroxysteroid dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cara JF,
Moshang T Jr,
Bongiovanni AM,
Marx BS</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
1985 Sep 5;313(10):618-21.
doi: 10.1056/NEJM198509053131007.
<span class="bold">PMID: </span><a href="/pubmed/3160950" target="_blank">3160950</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6968003">Urinary steroidal pattern of infants with congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bongiovanni AM</span><br />
<span class="medgenPMjournal">J Steroid Biochem</span>
1980 Jul;13(7):809-11.
doi: 10.1016/0022-4731(80)90233-2.
<span class="bold">PMID: </span><a href="/pubmed/6968003" target="_blank">6968003</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223%20beta-Hydroxysteroid%20dehydrogenase%20deficiency%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 (32)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/11344940">Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pang S</span><br />
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
2001 Mar;30(1):81-99, vi-vii.
doi: 10.1016/s0889-8529(08)70020-3.
<span class="bold">PMID: </span><a href="/pubmed/11344940" target="_blank">11344940</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1623993">Nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency: a review of our experience with 25 female patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schram P,
Zerah M,
Mani P,
Jewelewicz R,
Jaffe S,
New MI</span><br />
<span class="medgenPMjournal">Fertil Steril</span>
1992 Jul;58(1):129-36.
<span class="bold">PMID: </span><a href="/pubmed/1623993" target="_blank">1623993</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2146126">Isolated dehydroepiandrosterone sulphate hypersecretion: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Radetti G,
Cacciari E,
Zachmann M</span><br />
<span class="medgenPMjournal">Eur J Pediatr</span>
1990 Aug;149(11):762-4.
doi: 10.1007/BF01957274.
<span class="bold">PMID: </span><a href="/pubmed/2146126" target="_blank">2146126</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6247574">Plasma and urinary androgens and oestrogens in a pubertal boy with 3 beta-hydroxysteroid dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martin F,
Perheentupa J,
Adlercreutz H</span><br />
<span class="medgenPMjournal">J Steroid Biochem</span>
1980 Feb;13(2):197-201.
doi: 10.1016/0022-4731(80)90192-2.
<span class="bold">PMID: </span><a href="/pubmed/6247574" target="_blank">6247574</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5846696">Adrenogenital syndrome. Association with 3-beta-hydroxysteroid dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kogut MD</span><br />
<span class="medgenPMjournal">Am J Dis Child</span>
1965 Nov;110(5):562-5.
doi: 10.1001/archpedi.1965.02090030586014.
<span class="bold">PMID: </span><a href="/pubmed/5846696" target="_blank">5846696</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223%20beta-Hydroxysteroid%20dehydrogenase%20deficiency%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 (15)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/9120982">Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Walker BR,
Skoog SJ,
Winslow BH,
Canning DA,
Tank ES</span><br />
<span class="medgenPMjournal">J Urol</span>
1997 Apr;157(4):1460-3.
<span class="bold">PMID: </span><a href="/pubmed/9120982" target="_blank">9120982</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8374678">Hyperandrogenism in female adolescents.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Winter JS</span><br />
<span class="medgenPMjournal">Curr Opin Pediatr</span>
1993 Aug;5(4):488-93.
doi: 10.1097/00008480-199308000-00020.
<span class="bold">PMID: </span><a href="/pubmed/8374678" target="_blank">8374678</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1330378">The incidence of late-onset congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency among hirsute women.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mathieson J,
Couzinet B,
Wekstein-Noel S,
Nahoul K,
Turpin G,
Schaison G</span><br />
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
1992 Apr;36(4):383-8.
doi: 10.1111/j.1365-2265.1992.tb01464.x.
<span class="bold">PMID: </span><a href="/pubmed/1330378" target="_blank">1330378</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3007557">Adrenal androgen hyperresponsiveness to adrenocorticotropin in women with acne and/or hirsutism: adrenal enzyme defects and exaggerated adrenarche.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lucky AW,
Rosenfield RL,
McGuire J,
Rudy S,
Helke J</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
1986 May;62(5):840-8.
doi: 10.1210/jcem-62-5-840.
<span class="bold">PMID: </span><a href="/pubmed/3007557" target="_blank">3007557</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223%20beta-Hydroxysteroid%20dehydrogenase%20deficiency%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39713884">Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">İsakoca M,
Erdeve Ş,
Çetinkaya S</span><br />
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
2025 Jan 10;17(Suppl 1):23-32.
Epub 2024 Dec 23
doi: 10.4274/jcrpe.galenos.2024.2024-6-21-S.
<span class="bold">PMID: </span><a href="/pubmed/39713884" target="_blank">39713884</a><a href="/pmc/articles/PMC11730102" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35757411">Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ladjouze A,
Donaldson M,
Plotton I,
Djenane N,
Mohammedi K,
Tardy-Guidollet V,
Mallet D,
Boulesnane K,
Bouzerar Z,
Morel Y,
Roucher-Boulez F</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2022;13:867073.
Epub 2022 Jun 10
doi: 10.3389/fendo.2022.867073.
<span class="bold">PMID: </span><a href="/pubmed/35757411" target="_blank">35757411</a><a href="/pmc/articles/PMC9229600" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7626445">Molecular basis of human 3 beta-hydroxysteroid dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Simard J,
Rheaume E,
Mebarki F,
Sanchez R,
New MI,
Morel Y,
Labrie F</span><br />
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
1995 Jun;53(1-6):127-38.
doi: 10.1016/0960-0760(95)00043-y.
<span class="bold">PMID: </span><a href="/pubmed/7626445" target="_blank">7626445</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2362435">Urinary 5-ene-steroid excretion in non-classical congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency (NC-3BHSD).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Whorwood CB,
Montalto J,
Sandars SR,
Connelly JF</span><br />
<span class="medgenPMjournal">J Steroid Biochem</span>
1990 May;35(6):735-9.
doi: 10.1016/0022-4731(90)90316-k.
<span class="bold">PMID: </span><a href="/pubmed/2362435" target="_blank">2362435</a></div>
<div class="nl"><a target="_blank" href="/pubmed/295036">3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zachmann M,
Forest MG,
De Peretti E</span><br />
<span class="medgenPMjournal">Horm Res</span>
1979;11(6):292-302.
doi: 10.1159/000179067.
<span class="bold">PMID: </span><a href="/pubmed/295036" target="_blank">295036</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223%20beta-Hydroxysteroid%20dehydrogenase%20deficiency%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 (9)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0342471%5bDISCUI%5d&amp;filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
<li><a href="/gtr/tests?term=C0342471%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (27)</a></li>
<li><a href="/gtr/tests?term=C0342471%5bDISCUI%5d&amp;filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
<li><a href="/gtr/tests?term=C0342471%5bDISCUI%5d&amp;filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
<li><a href="/gtr/tests?term=C0342471%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (5)</a></li>
<li><a href="/gtr/tests?term=C0342471%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (44)</a></li>
<li><a href="/gtr/tests?term=C0342471%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0342471%5bDISCUI%5d" target="_blank">See all (46)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%223%20beta-hydroxysteroid%20dehydrogenase%20deficiency%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/3-Beta-Hydroxysteroid+Dehydrogenase+Deficiency/30" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/adrenal_hyperplasia_congenital_due_to_3_beta_hydroxysteroid_dehydrogenase_2_deficiency" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=3%20beta-Hydroxysteroid%20dehydrogenase%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9152/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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