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<meta name="keywords" content="11-alpha beta-hydroxylase deficiency, 11-beta-hydroxylase deficiency, 11-beta-hydroxylase-deficient congenital adrenal hyperplasia, C0268292, adrenal hyperplasia 4, adrenal hyperplasia hypertensive form, adrenal hyperplasia iv, adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency, adrenal hyperplasia, hypertensive form, adrenogenital disorder due to 11-beta-hydroxylase deficiency, cah - 11 beta-hydroxylase deficiency, cah due to 11-beta-hydroxylase deficiency, congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, congenital adrenal hyperplasia type 4, congenital adrenal hyperplasia, type 3, congenital cyp11b1 deficiency, cyp11b1, cyp11b1 deficiency, cyp11b1 deficiency congenital, deficiency of steroid 11-beta-hydroxylase, deficiency of steroid 11-beta-monooxygenase, disease or syndrome, hypertensive congenital adrenal hyperplasia, hypertensive form of adrenal hyperplasia, p450c11b1 deficiency, steroid 11-beta-hydroxylase deficiency, steroid 11-beta-monooxygenase 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="Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991). CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (201910) (White et al., 1991)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=82783
|
||
ConceptID=C0268292
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Deficiency of steroid 11-beta-monooxygenase<span class="h1sub">(CYP11B1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82783</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0268292</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>11-alpha beta-hydroxylase deficiency; 11-BETA-HYDROXYLASE DEFICIENCY; 11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; Adrenal hyperplasia 4; Adrenal hyperplasia hypertensive form; ADRENAL HYPERPLASIA IV; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; CYP11B1; P450C11B1 DEFICIENCY; STEROID 11-BETA-HYDROXYLASE DEFICIENCY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Deficiency of steroid 11-beta-hydroxylase (124214007); Deficiency of steroid 11-beta-monooxygenase (124214007); Steroid 11-beta-monooxygenase deficiency (124214007); Hypertensive congenital adrenal hyperplasia (124214007); 11-beta-hydroxylase deficiency (124214007); Adrenogenital disorder due to 11-beta-hydroxylase deficiency (124214007); CAH - 11 beta-hydroxylase deficiency (124214007); Congenital adrenal hyperplasia, type 3 (124214007)</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) 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="CYP11B1 - ID: 1584 - NCBI Gene" href="/gene/1584" class="medgenPMinfo">CYP11B1</a> (8q24.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008729" target="_blank">MONDO:0008729</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/202010" target="_blank">202010</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90795">ORPHA90795</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991). CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (201910) (White et al., 1991). [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 />Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.<br /><br />There are two types of CAH due to 11-beta-hydroxylase deficiency, the classic form and the non-classic form. The classic form is the more severe of the two types.<br /><br />Females with the classic form of CAH due to 11-beta-hydroxylase deficiency have external genitalia that do not look clearly male or female (atypical genitalia). However, the internal reproductive organs develop normally. Males and females with the classic form of this condition have early development of their secondary sexual characteristics such as growth of facial and pubic hair, deepening of the voice, appearance of acne, and onset of a growth spurt. The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. In addition, approximately two-thirds of individuals with the classic form of CAH due to 11-beta-hydroxylase deficiency have high blood pressure (hypertension). Hypertension typically develops within the first year of life.<br /><br />Females with the non-classic form of CAH due to 11-beta-hydroxylase deficiency have normal female genitalia. As affected females get older, they may develop excessive body hair growth (hirsutism) and irregular menstruation. Males with the non-classic form of this condition do not typically have any signs or symptoms except for short stature. Hypertension is not a feature of the non-classic form of CAH due to 11-beta-hydroxylase deficiency. <a target="_blank" href="https://medlineplus.gov/genetics/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency">https://medlineplus.gov/genetics/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_57848"><div><strong>Clitoral hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57848</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0156394</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophy of the clitoris.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57848">Feature record</a> | <a href="/medgen?term=%22Clitoral%20hypertrophy%22%5BClinical%20Features%5D%20OR%2057848%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66027"><div><strong>Decreased testicular size</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66027</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced volume of the testicle (the male gonad).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66027">Feature record</a> | <a href="/medgen?term=%22Decreased%20testicular%20size%22%5BClinical%20Features%5D%20OR%2066027%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120575"><div><strong>Uterine hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120575</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0266399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the uterus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120575">Feature record</a> | <a href="/medgen?term=%22Uterine%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120575%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82837"><div><strong>Long penis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82837</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0269011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Penile length more than 2 SD above the mean for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82837">Feature record</a> | <a href="/medgen?term=%22Long%20penis%22%5BClinical%20Features%5D%20OR%2082837%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_91040"><div><strong>Hypoplasia of the vagina</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91040</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0345309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the vagina.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91040">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20vagina%22%5BClinical%20Features%5D%20OR%2091040%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892752"><div><strong>Ambiguous genitalia, female</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892752</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4025891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ambiguous genitalia in an individual with XX genetic gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892752">Feature record</a> | <a href="/medgen?term=%22Ambiguous%20genitalia%2C%20female%22%5BClinical%20Features%5D%20OR%20892752%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154262"><div><strong>Accelerated skeletal maturation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154262</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0545053</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154262">Feature record</a> | <a href="/medgen?term=%22Accelerated%20skeletal%20maturation%22%5BClinical%20Features%5D%20OR%20154262%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5712"><div><strong>Hypokalemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5712</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased potassium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5712">Feature record</a> | <a href="/medgen?term=%22Hypokalemia%22%5BClinical%20Features%5D%20OR%205712%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57992"><div><strong>Hyperpigmentation of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57992</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A darkening of the skin related to an increase in melanin production and deposition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57992">Feature record</a> | <a href="/medgen?term=%22Hyperpigmentation%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%2057992%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7900"><div><strong>Congenital adrenal hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7900</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0001627</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of adrenal hyperplasia with congenital onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7900">Feature record</a> | <a href="/medgen?term=%22Congenital%20adrenal%20hyperplasia%22%5BClinical%20Features%5D%20OR%207900%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1386637"><div><strong>Increased circulating androstenedione concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1386637</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0240995</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of androstenedione in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1386637">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20androstenedione%20concentration%22%5BClinical%20Features%5D%20OR%201386637%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_86215"><div><strong>Adrenogenital syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86215</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0302280</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86215">Feature record</a> | <a href="/medgen?term=%22Adrenogenital%20syndrome%22%5BClinical%20Features%5D%20OR%2086215%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_208996"><div><strong>Decreased circulating aldosterone concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208996</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0857899</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally reduced levels of aldosterone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208996">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20aldosterone%20concentration%22%5BClinical%20Features%5D%20OR%20208996%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337182"><div><strong>Decreased circulating renin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337182</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845206</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An decreased level of renin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337182">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20renin%20concentration%22%5BClinical%20Features%5D%20OR%20337182%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347989"><div><strong>Precocious puberty in males</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347989</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The onset of puberty before the age of 9 years in boys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347989">Feature record</a> | <a href="/medgen?term=%22Precocious%20puberty%20in%20males%22%5BClinical%20Features%5D%20OR%20347989%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892551"><div><strong>Increased serum testosterone level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892551</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4072885</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevated circulating testosterone level in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892551">Feature record</a> | <a href="/medgen?term=%22Increased%20serum%20testosterone%20level%22%5BClinical%20Features%5D%20OR%20892551%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1387192"><div><strong>Elevated serum 11-deoxycortisol</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1387192</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4476775</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1387192">Feature record</a> | <a href="/medgen?term=%22Elevated%20serum%2011-deoxycortisol%22%5BClinical%20Features%5D%20OR%201387192%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokalemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</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_86215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenogenital syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7900" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital adrenal hyperplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_208996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating aldosterone concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337182" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating renin concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1387192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated serum 11-deoxycortisol</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1386637" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating androstenedione concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased serum testosterone level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Precocious puberty in males</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_892752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ambiguous genitalia, female</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clitoral hypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66027" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased testicular size</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_91040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the vagina</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82837" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long penis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120575" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Uterine hypoplasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperpigmentation of the skin</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Accelerated skeletal maturation</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0014130[DISCUI]&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&ncbi_uid=4043&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]&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&from_uid=7900" ref="ncbi_uid=7900">V</a></span></span><span class="TLline"><a href="/medgen/7900" ref="tree=GTR&ncbi_uid=7900&link_uid=7900" title="View MedGen record for 'Congenital adrenal hyperplasia'">Congenital adrenal hyperplasia</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=C0342471[DISCUI]&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&from_uid=452446" ref="ncbi_uid=452446">V</a></span></span><span class="TLline"><a href="/medgen/452446" ref="tree=GTR&ncbi_uid=452446&link_uid=452446" title="View MedGen record for '3 beta-Hydroxysteroid dehydrogenase deficiency'">3 beta-Hydroxysteroid dehydrogenase 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=C2936858[DISCUI]&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&from_uid=424833" ref="ncbi_uid=424833">V</a></span></span><span class="TLline"><a href="/medgen/424833" ref="tree=GTR&ncbi_uid=424833&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]&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&from_uid=83341" ref="ncbi_uid=83341">V</a></span></span><span class="TLline"><a href="/medgen/83341" ref="tree=GTR&ncbi_uid=83341&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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268292[DISCUI]&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&from_uid=82783" ref="ncbi_uid=82783">V</a></span></span><span class="TLline">Deficiency of steroid 11-beta-monooxygenase</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]&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&from_uid=82782" ref="ncbi_uid=82782">V</a></span></span><span class="TLline"><a href="/medgen/82782" ref="tree=GTR&ncbi_uid=82782&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">Deficiency of steroid 11-beta-monooxygenase</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=12098&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Deficiency of steroid 11-beta-monooxygenase</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34718183">Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ravichandran L,
|
||
Korula S,
|
||
Asha HS,
|
||
Varghese D,
|
||
Parthiban R,
|
||
Johnson J,
|
||
Ishwarya J,
|
||
Shetty S,
|
||
Cherian KE,
|
||
Jebasingh F,
|
||
Kapoor N,
|
||
Pachat D,
|
||
Mathai S,
|
||
Simon A,
|
||
Rajaratnam S,
|
||
Paul TV,
|
||
Thomas N,
|
||
Chapla A</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2021 Dec;64(12):104369.
|
||
Epub 2021 Oct 27
|
||
doi: 10.1016/j.ejmg.2021.104369.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34718183" target="_blank">34718183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20541148">Investigation and initial management of ambiguous genitalia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahmed SF,
|
||
Rodie M</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2010 Apr;24(2):197-218.
|
||
doi: 10.1016/j.beem.2009.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20541148" target="_blank">20541148</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17726334">Over 50 years of progress in the treatment of the hypertensive form of congenital adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency. Commentary on Simm PJ and Zacharin MR: Successful pregnancy in a patient with severe 11-beta-hydroxylase deficiency and novel mutations in CYP11B1 gene (Horm Res 2007;68:294-297).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Migeon CJ</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
2007;68(6):298-9.
|
||
Epub 2007 Aug 27
|
||
doi: 10.1159/000107652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17726334" target="_blank">17726334</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(deficiency%20of%20steroid%2011-beta-monooxygenase)%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 (14)</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/38324138">Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Concolino P</span><br />
|
||
<span class="medgenPMjournal">Mol Diagn Ther</span>
|
||
2024 Mar;28(2):215-224.
|
||
Epub 2024 Feb 7
|
||
doi: 10.1007/s40291-024-00697-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38324138" target="_blank">38324138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35067946">High prevalence of hypertension and target organ damage in patients with 11β-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun B,
|
||
Lu L,
|
||
Gao Y,
|
||
Yu B,
|
||
Chen S,
|
||
Tong A,
|
||
Wu X,
|
||
Mao J,
|
||
Wang X,
|
||
Zhao Z,
|
||
Zhang W,
|
||
Nie M</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2022 May;96(5):657-665.
|
||
Epub 2022 Feb 3
|
||
doi: 10.1111/cen.14677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35067946" target="_blank">35067946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19500762">Genetics of congenital adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krone N,
|
||
Arlt W</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2009 Apr;23(2):181-92.
|
||
doi: 10.1016/j.beem.2008.10.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19500762" target="_blank">19500762</a><a href="/pmc/articles/PMC5576025" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1601507">Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menon PS,
|
||
Harinarayan CV,
|
||
Forest MG</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
1992 Jan;29(1):98-103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1601507" target="_blank">1601507</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1958539">Steroids and hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantero F,
|
||
Armanini D,
|
||
Boscaro M,
|
||
Carpenè G,
|
||
Fallo F,
|
||
Opocher G,
|
||
Rocco S,
|
||
Scaroni C,
|
||
Sonino N</span><br />
|
||
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
|
||
1991;40(1-3):35-44.
|
||
doi: 10.1016/0960-0760(91)90165-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1958539" target="_blank">1958539</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20steroid%2011-beta-monooxygenase%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 (58)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38324138">Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Concolino P</span><br />
|
||
<span class="medgenPMjournal">Mol Diagn Ther</span>
|
||
2024 Mar;28(2):215-224.
|
||
Epub 2024 Feb 7
|
||
doi: 10.1007/s40291-024-00697-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38324138" target="_blank">38324138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35067946">High prevalence of hypertension and target organ damage in patients with 11β-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun B,
|
||
Lu L,
|
||
Gao Y,
|
||
Yu B,
|
||
Chen S,
|
||
Tong A,
|
||
Wu X,
|
||
Mao J,
|
||
Wang X,
|
||
Zhao Z,
|
||
Zhang W,
|
||
Nie M</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2022 May;96(5):657-665.
|
||
Epub 2022 Feb 3
|
||
doi: 10.1111/cen.14677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35067946" target="_blank">35067946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14594571">Hypertension and adrenal disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chemaitilly W,
|
||
Wilson RC,
|
||
New MI</span><br />
|
||
<span class="medgenPMjournal">Curr Hypertens Rep</span>
|
||
2003 Dec;5(6):498-504.
|
||
doi: 10.1007/s11906-003-0058-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14594571" target="_blank">14594571</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1601507">Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menon PS,
|
||
Harinarayan CV,
|
||
Forest MG</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
1992 Jan;29(1):98-103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1601507" target="_blank">1601507</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1958539">Steroids and hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantero F,
|
||
Armanini D,
|
||
Boscaro M,
|
||
Carpenè G,
|
||
Fallo F,
|
||
Opocher G,
|
||
Rocco S,
|
||
Scaroni C,
|
||
Sonino N</span><br />
|
||
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
|
||
1991;40(1-3):35-44.
|
||
doi: 10.1016/0960-0760(91)90165-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1958539" target="_blank">1958539</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20steroid%2011-beta-monooxygenase%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 (151)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19931309">ACTH receptor blockade: a novel approach to treat congenital adrenal hyperplasia, or Cushing's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newfield RS</span><br />
|
||
<span class="medgenPMjournal">Med Hypotheses</span>
|
||
2010 Apr;74(4):705-6.
|
||
doi: 10.1016/j.mehy.2009.10.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19931309" target="_blank">19931309</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11344939">Steroid 11 beta-hydroxylase deficiency and related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">White PC</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2001 Mar;30(1):61-79, vi.
|
||
doi: 10.1016/s0889-8529(08)70019-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11344939" target="_blank">11344939</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6609951">Adrenogenital syndrome due to 11-beta-hydroxylase deficiency with skeletal abnormalities and pulmonary stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ajlouni K,
|
||
El-Zaheri M,
|
||
Habbab M,
|
||
Qoussous Y,
|
||
El-Khateeb M</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
1984 Apr;7(2):129-31.
|
||
doi: 10.1007/BF03348402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6609951" target="_blank">6609951</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/411440">Adrenogenital syndrome (11-beta-hydroxylase deficiency) with hyperprolactinemia: reversal by glucocorticoid administration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brautbar NN,
|
||
Ben-David MM</span><br />
|
||
<span class="medgenPMjournal">Arch Intern Med</span>
|
||
1977 Nov;137(11):1608-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/411440" target="_blank">411440</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/123956">Gynecomastia with congenital virilizing adrenal hyperplasia (11-beta-hydroxylase deficiency).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maclaren NK,
|
||
Migeon CJ,
|
||
Raiti S</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1975 Apr;86(4):579-81.
|
||
doi: 10.1016/s0022-3476(75)80154-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/123956" target="_blank">123956</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20steroid%2011-beta-monooxygenase%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 (47)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37486441">Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu WL,
|
||
Ma XY,
|
||
Zhang J,
|
||
Wang JQ,
|
||
Zhang TT,
|
||
Ye L,
|
||
Xiao Y,
|
||
Dong ZY,
|
||
Wang W,
|
||
Sun SY,
|
||
Li CY,
|
||
Hu RG,
|
||
Ning G,
|
||
Zhang LD</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2024 Apr;20(4):422-433.
|
||
Epub 2023 Jul 24
|
||
doi: 10.1007/s12519-023-00739-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37486441" target="_blank">37486441</a><a href="/pmc/articles/PMC11052800" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35067946">High prevalence of hypertension and target organ damage in patients with 11β-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun B,
|
||
Lu L,
|
||
Gao Y,
|
||
Yu B,
|
||
Chen S,
|
||
Tong A,
|
||
Wu X,
|
||
Mao J,
|
||
Wang X,
|
||
Zhao Z,
|
||
Zhang W,
|
||
Nie M</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2022 May;96(5):657-665.
|
||
Epub 2022 Feb 3
|
||
doi: 10.1111/cen.14677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35067946" target="_blank">35067946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33275286">Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karlekar MP,
|
||
Sarathi V,
|
||
Lila A,
|
||
Rai K,
|
||
Arya S,
|
||
Bhandare VV,
|
||
Atluri S,
|
||
Patil V,
|
||
Ramteke-Jadhav S,
|
||
Shah NS,
|
||
Kunwar A,
|
||
Bandgar T</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2021 Apr;94(4):533-543.
|
||
Epub 2020 Dec 4
|
||
doi: 10.1111/cen.14376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33275286" target="_blank">33275286</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28228528">Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khattab A,
|
||
Haider S,
|
||
Kumar A,
|
||
Dhawan S,
|
||
Alam D,
|
||
Romero R,
|
||
Burns J,
|
||
Li D,
|
||
Estatico J,
|
||
Rahi S,
|
||
Fatima S,
|
||
Alzahrani A,
|
||
Hafez M,
|
||
Musa N,
|
||
Razzghy Azar M,
|
||
Khaloul N,
|
||
Gribaa M,
|
||
Saad A,
|
||
Charfeddine IB,
|
||
Bilharinho de Mendonça B,
|
||
Belgorosky A,
|
||
Dumic K,
|
||
Dumic M,
|
||
Aisenberg J,
|
||
Kandemir N,
|
||
Alikasifoglu A,
|
||
Ozon A,
|
||
Gonc N,
|
||
Cheng T,
|
||
Kuhnle-Krahl U,
|
||
Cappa M,
|
||
Holterhus PM,
|
||
Nour MA,
|
||
Pacaud D,
|
||
Holtzman A,
|
||
Li S,
|
||
Zaidi M,
|
||
Yuen T,
|
||
New MI</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2017 Mar 7;114(10):E1933-E1940.
|
||
Epub 2017 Feb 22
|
||
doi: 10.1073/pnas.1621082114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28228528" target="_blank">28228528</a><a href="/pmc/articles/PMC5347606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1601507">Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menon PS,
|
||
Harinarayan CV,
|
||
Forest MG</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
1992 Jan;29(1):98-103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1601507" target="_blank">1601507</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20steroid%2011-beta-monooxygenase%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 (37)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37486441">Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu WL,
|
||
Ma XY,
|
||
Zhang J,
|
||
Wang JQ,
|
||
Zhang TT,
|
||
Ye L,
|
||
Xiao Y,
|
||
Dong ZY,
|
||
Wang W,
|
||
Sun SY,
|
||
Li CY,
|
||
Hu RG,
|
||
Ning G,
|
||
Zhang LD</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2024 Apr;20(4):422-433.
|
||
Epub 2023 Jul 24
|
||
doi: 10.1007/s12519-023-00739-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37486441" target="_blank">37486441</a><a href="/pmc/articles/PMC11052800" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37827219">Structural and clinical characterization of CYP11B2 inhibition by dexfadrostat phosphate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pignatti E,
|
||
Kollar J,
|
||
Hafele E,
|
||
Schuster D,
|
||
Steele RE,
|
||
Vogt B,
|
||
Schumacher C,
|
||
Groessl M</span><br />
|
||
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
|
||
2023 Dec;235:106409.
|
||
Epub 2023 Oct 10
|
||
doi: 10.1016/j.jsbmb.2023.106409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37827219" target="_blank">37827219</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35067946">High prevalence of hypertension and target organ damage in patients with 11β-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun B,
|
||
Lu L,
|
||
Gao Y,
|
||
Yu B,
|
||
Chen S,
|
||
Tong A,
|
||
Wu X,
|
||
Mao J,
|
||
Wang X,
|
||
Zhao Z,
|
||
Zhang W,
|
||
Nie M</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2022 May;96(5):657-665.
|
||
Epub 2022 Feb 3
|
||
doi: 10.1111/cen.14677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35067946" target="_blank">35067946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33830237">Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yildiz M,
|
||
Isik E,
|
||
Abali ZY,
|
||
Keskin M,
|
||
Ozbek MN,
|
||
Bas F,
|
||
Ucakturk SA,
|
||
Buyukinan M,
|
||
Onal H,
|
||
Kara C,
|
||
Storbeck KH,
|
||
Darendeliler F,
|
||
Cayir A,
|
||
Unal E,
|
||
Anik A,
|
||
Demirbilek H,
|
||
Cetin T,
|
||
Dursun F,
|
||
Catli G,
|
||
Turan S,
|
||
Falhammar H,
|
||
Baris T,
|
||
Yaman A,
|
||
Haklar G,
|
||
Bereket A,
|
||
Guran T</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2021 Aug 18;106(9):e3714-e3724.
|
||
doi: 10.1210/clinem/dgab225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33830237" target="_blank">33830237</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19500762">Genetics of congenital adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krone N,
|
||
Arlt W</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2009 Apr;23(2):181-92.
|
||
doi: 10.1016/j.beem.2008.10.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19500762" target="_blank">19500762</a><a href="/pmc/articles/PMC5576025" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20steroid%2011-beta-monooxygenase%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 (51)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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||
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|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0268292%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268292%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (29)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268292%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268292%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268292%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (46)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268292%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268292%5bDISCUI%5d" target="_blank">See all (50)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=202010" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=90795" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Deficiency%20of%20steroid%2011-beta-monooxygenase" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_121">
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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=(deficiency%20of%20steroid%2011-beta-monooxygenase)%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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb4dbe84f3725e59205c33">Deficiency of steroid 11-beta-monooxygenase</a>
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<div class="ralinkpop offscreen_noflow">Deficiency of steroid 11-beta-monooxygenase<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb4dbbf4a390645e24b33e">C1291609[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(32)</span></a>
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<div class="ralinkpop offscreen_noflow">C1291609[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb4dba84f3725e592048df">Deficiency of ribose-5-phosphate isomerase</a>
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<div class="ralinkpop offscreen_noflow">Deficiency of ribose-5-phosphate isomerase<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb4db9b15b832ebcef79d1">C1291609[conceptid] <span class="number">(1)</span></a>
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