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||
<!--
|
||
UID=7900
|
||
ConceptID=C0001627
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital adrenal hyperplasia<span class="h1sub">(CAH)</span></div></h1><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><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>CAH</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital adrenogenital syndrome (237751000); Congenital adrenal hyperplasia (237751000); CAH - Congenital adrenal hyperplasia (237751000)</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" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/6770">STAR</a>, <a target="_blank" href="/gene/3284">HSD3B2</a>, <a target="_blank" href="/gene/1589">CYP21A2</a>, <a target="_blank" href="/gene/1586">CYP17A1</a>, <a target="_blank" href="/gene/1584">CYP11B1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0008258">HP:0008258</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018479" target="_blank">MONDO:0018479</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=418">ORPHA418</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">A type of adrenal hyperplasia with congenital onset. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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]&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="matched_ds"><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">Congenital adrenal hyperplasia</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="TLclosed"><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"><a href="/medgen/82783" ref="tree=GTR&ncbi_uid=82783&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]&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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/893021" ref="tree=MeSH" title="MedGen record for Abnormality of the endocrine system">Abnormality of the endocrine system</a></span><ul><li><span class="TLline"><a href="/medgen/1376980" ref="tree=MeSH" title="MedGen record for Abnormal endocrine morphology">Abnormal endocrine morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868803" ref="tree=MeSH" title="MedGen record for Abnormal adrenal morphology">Abnormal adrenal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/301220" ref="tree=MeSH" title="MedGen record for Adrenal hyperplasia">Adrenal hyperplasia</a></span><ul><li><span class="matched_ds">Congenital adrenal hyperplasia</span><ul><li><span class="TLline"><a href="/medgen/452446" ref="tree=MeSH" title="MedGen record for 3 beta-Hydroxysteroid dehydrogenase deficiency">3 beta-Hydroxysteroid dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/925006" ref="tree=MeSH" title="MedGen record for Adrenal Gland Hyperplasia II">Adrenal Gland Hyperplasia II</a></span></li><li><span class="TLline"><a href="/medgen/461449" ref="tree=MeSH" title="MedGen record for Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis">Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</a></span></li><li><span class="TLline"><a href="/medgen/1390311" ref="tree=MeSH" title="MedGen record for Classic congenital adrenal hyperplasia">Classic congenital adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/424833" ref="tree=MeSH" title="MedGen record for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1826062" ref="tree=MeSH" title="MedGen record for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form</a></span></li><li><span class="TLline"><a href="/medgen/1826061" ref="tree=MeSH" title="MedGen record for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/348008" ref="tree=MeSH" title="MedGen record for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency">Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/83341" ref="tree=MeSH" title="MedGen record for Congenital lipoid adrenal hyperplasia due to STAR deficency">Congenital lipoid adrenal hyperplasia due to STAR deficency</a></span><ul><li><span class="TLline"><a href="/medgen/1842881" ref="tree=MeSH" title="MedGen record for Classic congenital lipoid adrenal hyperplasia due to STAR deficency">Classic congenital lipoid adrenal hyperplasia due to STAR deficency</a></span></li><li><span class="TLline"><a href="/medgen/1842170" ref="tree=MeSH" title="MedGen record for Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency">Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82783" ref="tree=MeSH" title="MedGen record for Deficiency of steroid 11-beta-monooxygenase">Deficiency of steroid 11-beta-monooxygenase</a></span></li><li><span class="TLline"><a href="/medgen/82782" ref="tree=MeSH" title="MedGen record for Deficiency of steroid 17-alpha-monooxygenase">Deficiency of steroid 17-alpha-monooxygenase</a></span></li><li><span class="TLline"><a href="/medgen/137971" ref="tree=MeSH" title="MedGen record for Macronodular adrenal hyperplasia">Macronodular adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/575066" ref="tree=MeSH" title="MedGen record for Micronodular adrenal hyperplasia">Micronodular adrenal hyperplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1374375" ref="tree=MeSH" title="MedGen record for Isolated Non-Pigmented Micronodular Adrenal Hyperplasia">Isolated Non-Pigmented Micronodular Adrenal Hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/1382077" ref="tree=MeSH" title="MedGen record for Primary Pigmented Nodular Adrenal Dysplasia">Primary Pigmented Nodular Adrenal Dysplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/926241" ref="tree=MeSH" title="MedGen record for Multinodular Adrenal Hyperplasia">Multinodular Adrenal Hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/90982" ref="tree=MeSH" title="MedGen record for Non-classic congenital adrenal hyperplasia">Non-classic congenital adrenal hyperplasia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_82783"><div><strong>Deficiency of steroid 11-beta-monooxygenase</strong><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.">C0268292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">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).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82783">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_83341"><div><strong>Congenital lipoid adrenal hyperplasia due to STAR deficency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83341</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.">C0342474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by Lin et al., 1991 and Bose et al., 1996).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83341">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348008"><div><strong>Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348008</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:">C1860042</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/348008">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83341" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital lipoid adrenal hyperplasia due to STAR deficency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82783" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of steroid 11-beta-monooxygenase</a></div></div>
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||
</div>
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||
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||
<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>
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||
<div class="nl"><a target="_blank" href="/pubmed/36399318">The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Maher JY,
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||
Gomez-Lobo V,
|
||
Merke DP</span><br />
|
||
<span class="medgenPMjournal">Rev Endocr Metab Disord</span>
|
||
2023 Feb;24(1):71-83.
|
||
Epub 2022 Nov 18
|
||
doi: 10.1007/s11154-022-09770-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36399318" target="_blank">36399318</a><a href="/pmc/articles/PMC9884653" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33961029">Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Claahsen-van der Grinten HL,
|
||
Speiser PW,
|
||
Ahmed SF,
|
||
Arlt W,
|
||
Auchus RJ,
|
||
Falhammar H,
|
||
Flück CE,
|
||
Guasti L,
|
||
Huebner A,
|
||
Kortmann BBM,
|
||
Krone N,
|
||
Merke DP,
|
||
Miller WL,
|
||
Nordenström A,
|
||
Reisch N,
|
||
Sandberg DE,
|
||
Stikkelbroeck NMML,
|
||
Touraine P,
|
||
Utari A,
|
||
Wudy SA,
|
||
White PC</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2022 Jan 12;43(1):91-159.
|
||
doi: 10.1210/endrev/bnab016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33961029" target="_blank">33961029</a><a href="/pmc/articles/PMC8755999" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30272171">Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Speiser PW,
|
||
Arlt W,
|
||
Auchus RJ,
|
||
Baskin LS,
|
||
Conway GS,
|
||
Merke DP,
|
||
Meyer-Bahlburg HFL,
|
||
Miller WL,
|
||
Murad MH,
|
||
Oberfield SE,
|
||
White PC</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2018 Nov 1;103(11):4043-4088.
|
||
doi: 10.1210/jc.2018-01865.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30272171" target="_blank">30272171</a><a href="/pmc/articles/PMC6456929" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20adrenal%20hyperplasia%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 (688)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/CAH-Transition.pdf" target="_blank">American College of Medical Genetics ACT SHEET, Transition to Adult Health Care ACT Sheet, Congenital Adrenal Hyperplasia (CAH)</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Elevated-17-OHP-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Congenital Adrenal Hyperplasia (Elevated 17-OHP), 2009</a></h3>
|
||
</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/38296783">Congenital Adrenal Hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fraga NR,
|
||
Minaeian N,
|
||
Kim MS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2024 Feb 1;45(2):74-84.
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||
doi: 10.1542/pir.2022-005617.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38296783" target="_blank">38296783</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36502822">Congenital adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auer MK,
|
||
Nordenström A,
|
||
Lajic S,
|
||
Reisch N</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2023 Jan 21;401(10372):227-244.
|
||
Epub 2022 Dec 8
|
||
doi: 10.1016/S0140-6736(22)01330-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36502822" target="_blank">36502822</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33518183">Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jha S,
|
||
Turcu AF</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2021 Mar;50(1):151-165.
|
||
Epub 2021 Jan 9
|
||
doi: 10.1016/j.ecl.2020.10.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33518183" target="_blank">33518183</a><a href="/pmc/articles/PMC7863575" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28576284">Congenital adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Maouche D,
|
||
Arlt W,
|
||
Merke DP</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2017 Nov 11;390(10108):2194-2210.
|
||
Epub 2017 May 30
|
||
doi: 10.1016/S0140-6736(17)31431-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28576284" target="_blank">28576284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30480408">Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chernushyn SY,
|
||
Livshits LA</span><br />
|
||
<span class="medgenPMjournal">Tsitol Genet</span>
|
||
2016 May-Jun;50(3):42-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30480408" target="_blank">30480408</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20adrenal%20hyperplasia%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 (1921)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38296783">Congenital Adrenal Hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fraga NR,
|
||
Minaeian N,
|
||
Kim MS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2024 Feb 1;45(2):74-84.
|
||
doi: 10.1542/pir.2022-005617.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38296783" target="_blank">38296783</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38296561">Congenital Adrenal Hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kobayashi A,
|
||
Fujiu K</span><br />
|
||
<span class="medgenPMjournal">Int Heart J</span>
|
||
2024;65(1):1-3.
|
||
doi: 10.1536/ihj.23-647.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38296561" target="_blank">38296561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36502822">Congenital adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auer MK,
|
||
Nordenström A,
|
||
Lajic S,
|
||
Reisch N</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2023 Jan 21;401(10372):227-244.
|
||
Epub 2022 Dec 8
|
||
doi: 10.1016/S0140-6736(22)01330-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36502822" target="_blank">36502822</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32966723">Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merke DP,
|
||
Auchus RJ</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Sep 24;383(13):1248-1261.
|
||
doi: 10.1056/NEJMra1909786.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32966723" target="_blank">32966723</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28450075">Congenital Adrenal Hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Witchel SF</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2017 Oct;30(5):520-534.
|
||
Epub 2017 Apr 24
|
||
doi: 10.1016/j.jpag.2017.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28450075" target="_blank">28450075</a><a href="/pmc/articles/PMC5624825" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20adrenal%20hyperplasia%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 (3085)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38296783">Congenital Adrenal Hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fraga NR,
|
||
Minaeian N,
|
||
Kim MS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2024 Feb 1;45(2):74-84.
|
||
doi: 10.1542/pir.2022-005617.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38296783" target="_blank">38296783</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36502822">Congenital adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auer MK,
|
||
Nordenström A,
|
||
Lajic S,
|
||
Reisch N</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2023 Jan 21;401(10372):227-244.
|
||
Epub 2022 Dec 8
|
||
doi: 10.1016/S0140-6736(22)01330-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36502822" target="_blank">36502822</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36399318">The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maher JY,
|
||
Gomez-Lobo V,
|
||
Merke DP</span><br />
|
||
<span class="medgenPMjournal">Rev Endocr Metab Disord</span>
|
||
2023 Feb;24(1):71-83.
|
||
Epub 2022 Nov 18
|
||
doi: 10.1007/s11154-022-09770-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36399318" target="_blank">36399318</a><a href="/pmc/articles/PMC9884653" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32966723">Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merke DP,
|
||
Auchus RJ</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Sep 24;383(13):1248-1261.
|
||
doi: 10.1056/NEJMra1909786.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32966723" target="_blank">32966723</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28576284">Congenital adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Maouche D,
|
||
Arlt W,
|
||
Merke DP</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2017 Nov 11;390(10108):2194-2210.
|
||
Epub 2017 May 30
|
||
doi: 10.1016/S0140-6736(17)31431-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28576284" target="_blank">28576284</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20adrenal%20hyperplasia%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 (1446)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33527139">Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merke DP,
|
||
Mallappa A,
|
||
Arlt W,
|
||
Brac de la Perriere A,
|
||
Lindén Hirschberg A,
|
||
Juul A,
|
||
Newell-Price J,
|
||
Perry CG,
|
||
Prete A,
|
||
Rees DA,
|
||
Reisch N,
|
||
Stikkelbroeck N,
|
||
Touraine P,
|
||
Maltby K,
|
||
Treasure FP,
|
||
Porter J,
|
||
Ross RJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2021 Apr 23;106(5):e2063-e2077.
|
||
doi: 10.1210/clinem/dgab051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33527139" target="_blank">33527139</a><a href="/pmc/articles/PMC8063257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32296393">Editorial: Congenital Adrenal Hyperplasia, Unresolved Issues and Implications on Clinical Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Livadas S,
|
||
Stratakis CA,
|
||
Macut D</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2020;11:170.
|
||
Epub 2020 Mar 31
|
||
doi: 10.3389/fendo.2020.00170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32296393" target="_blank">32296393</a><a href="/pmc/articles/PMC7136517" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28576284">Congenital adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Maouche D,
|
||
Arlt W,
|
||
Merke DP</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2017 Nov 11;390(10108):2194-2210.
|
||
Epub 2017 May 30
|
||
doi: 10.1016/S0140-6736(17)31431-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28576284" target="_blank">28576284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28476231">Genetics of Congenital Adrenal Hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hannah-Shmouni F,
|
||
Chen W,
|
||
Merke DP</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2017 Jun;46(2):435-458.
|
||
Epub 2017 Mar 1
|
||
doi: 10.1016/j.ecl.2017.01.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28476231" target="_blank">28476231</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25155737">Abnormalities of the external genitalia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldinger L,
|
||
Mudegowdar A,
|
||
Shukla AR</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2014 Sep;41(3):709-24.
|
||
Epub 2014 Jul 23
|
||
doi: 10.1016/j.clp.2014.05.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25155737" target="_blank">25155737</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20adrenal%20hyperplasia%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 (906)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33527139">Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merke DP,
|
||
Mallappa A,
|
||
Arlt W,
|
||
Brac de la Perriere A,
|
||
Lindén Hirschberg A,
|
||
Juul A,
|
||
Newell-Price J,
|
||
Perry CG,
|
||
Prete A,
|
||
Rees DA,
|
||
Reisch N,
|
||
Stikkelbroeck N,
|
||
Touraine P,
|
||
Maltby K,
|
||
Treasure FP,
|
||
Porter J,
|
||
Ross RJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2021 Apr 23;106(5):e2063-e2077.
|
||
doi: 10.1210/clinem/dgab051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33527139" target="_blank">33527139</a><a href="/pmc/articles/PMC8063257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31361105">Hirsutism in Women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matheson E,
|
||
Bain J</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2019 Aug 1;100(3):168-175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31361105" target="_blank">31361105</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30611412">Introduction: Contemporary perspectives on congenital adrenal hyperplasia: impacts on reproduction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">New MI,
|
||
Rosenwaks Z</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2019 Jan;111(1):4-6.
|
||
doi: 10.1016/j.fertnstert.2018.11.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30611412" target="_blank">30611412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29323690">Premature Adrenarche.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Novello L,
|
||
Speiser PW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Ann</span>
|
||
2018 Jan 1;47(1):e7-e11.
|
||
doi: 10.3928/19382359-20171214-04.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29323690" target="_blank">29323690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20540920">Adrenal vein sampling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kahn SL,
|
||
Angle JF</span><br />
|
||
<span class="medgenPMjournal">Tech Vasc Interv Radiol</span>
|
||
2010 Jun;13(2):110-25.
|
||
doi: 10.1053/j.tvir.2010.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20540920" target="_blank">20540920</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20adrenal%20hyperplasia%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 (1245)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35973409">Ethnic and National Differences in Congenital Adrenal Hyperplasia Incidence: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Navarro-Zambrana AN,
|
||
Sheets LR</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2023;96(3):249-258.
|
||
Epub 2022 Aug 16
|
||
doi: 10.1159/000526401.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35973409" target="_blank">35973409</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33246831">Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babu R,
|
||
Shah U</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2021 Feb;17(1):39-47.
|
||
Epub 2020 Nov 12
|
||
doi: 10.1016/j.jpurol.2020.11.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33246831" target="_blank">33246831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32190901">Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng SM,
|
||
Stepien KM,
|
||
Krishan A</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Mar 19;3(3):CD012517.
|
||
doi: 10.1002/14651858.CD012517.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32190901" target="_blank">32190901</a><a href="/pmc/articles/PMC7081382" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22789582">Treatment outcomes in congenital adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng TQ,
|
||
Speiser PW</span><br />
|
||
<span class="medgenPMjournal">Adv Pediatr</span>
|
||
2012;59(1):269-81.
|
||
Epub 2012 Jun 12
|
||
doi: 10.1016/j.yapd.2012.04.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22789582" target="_blank">22789582</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22325405">Minimally invasive adrenalectomy in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heloury Y,
|
||
Muthucumaru M,
|
||
Panabokke G,
|
||
Cheng W,
|
||
Kimber C,
|
||
Leclair MD</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2012 Feb;47(2):415-21.
|
||
doi: 10.1016/j.jpedsurg.2011.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22325405" target="_blank">22325405</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20adrenal%20hyperplasia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (32)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0001627%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
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<li><a href="/gtr/tests?term=C0001627%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
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<li><a href="/gtr/tests?term=C0001627%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
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<li><a href="/gtr/tests?term=C0001627%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
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<li><a href="/gtr/tests?term=C0001627%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0001627%5bDISCUI%5d" target="_blank">See all (27)</a></total></li>
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