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<meta name="keywords" content="17 alpha-hydroxylase deficiency, 17,20-lyase deficiency, isolated, 17-alpha-hydroxylase deficiency, 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia, 17-alpha-hydroxylase/17,20-lyase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete, 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial, C0268285, adrenal hyperplasia 5, adrenal hyperplasia v, adrenal hyperplasia, congenital due to 17-alpha-hydroxylase deficiency, adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency, adrenal hyperplasia, congenital, type 5, adrenogenital disorder due to 17-alpha-hydroxylase deficiency, cah - 17-alpha-hydroxysteroid dehydrogenase deficiency, cah - 17-hydroxylase deficiency, cah due to 17-alpha-hydroxylase deficiency, combined 17-hydroxylase/17,20-lyase deficiency, congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, congenital adrenal hyperplasia type 5, congenital adrenal hyperplasia, type 5, cyp17a1, deficiency of steroid 17-alpha-hydroxylase, deficiency of steroid 17-alpha-monooxygenase, disease or syndrome, steroid 17-alpha-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="17 alpha(a)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17a-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17a-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation.\n\nHormone imbalances lead to the characteristic signs and symptoms of 17a-hydroxylase/17,20-lyase deficiency, which include high blood pressure (hypertension), low levels of potassium in the blood (hypokalemia), and abnormal sexual development. The severity of the features varies. Two forms of the condition are recognized: complete 17a-hydroxylase/17,20-lyase deficiency, which is more severe, and partial 17a-hydroxylase/17,20-lyase deficiency, which is typically less so.\n\nMales and females are affected by disruptions to sexual development differently. Females (who have two X chromosomes) with 17a-hydroxylase/17,20-lyase deficiency are born with normal external female genitalia; however, the internal reproductive organs, including the uterus and ovaries, may be underdeveloped. Women with complete 17a-hydroxylase/17,20-lyase deficiency do not develop secondary sex characteristics, such as breasts and pubic hair, and do not menstruate (amenorrhea). Women with partial 17a-hydroxylase/17,20-lyase deficiency may develop some secondary sex characteristics; menstruation is typically irregular or absent. Either form of the disorder results in an inability to conceive a baby (infertility).\n\nIn affected individuals who are chromosomally male (having an X and a Y chromosome), problems with sexual development lead to abnormalities of the external genitalia. The most severely affected are born with characteristically female external genitalia and are generally raised as females. However, because they do not have female internal reproductive organs, these individuals have amenorrhea and do not develop female secondary sex characteristics. These individuals have testes, but they are abnormally located in the abdomen (undescended). Sometimes, complete 17a-hydroxylase/17,20-lyase deficiency leads to external genitalia that do not look clearly male or clearly female. Males with partial 17a-hydroxylase/17,20-lyase deficiency may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Males with either complete or partial 17a-hydroxylase/17,20-lyase deficiency are also infertile." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=82782
|
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ConceptID=C0268285
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Deficiency of steroid 17-alpha-monooxygenase</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82782</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0268285</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>17-ALPHA-HYDROXYLASE DEFICIENCY; 17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; 17-alpha-hydroxylase/17,20-lyase deficiency; ADRENAL HYPERPLASIA V; Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency; Congenital adrenal hyperplasia type 5</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Deficiency of steroid 17-alpha-hydroxylase (124220008); Deficiency of steroid 17-alpha-monooxygenase (124220008); Congenital adrenal hyperplasia, type 5 (124220008); Adrenogenital disorder due to 17-alpha-hydroxylase deficiency (124220008); Steroid 17-alpha-monooxygenase deficiency (124220008); CAH - 17-alpha-hydroxysteroid dehydrogenase deficiency (124220008); CAH - 17-hydroxylase deficiency (124220008); 17 alpha-Hydroxylase deficiency (124220008)</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="CYP17A1 - ID: 1586 - NCBI Gene" href="/gene/1586" class="medgenPMinfo">CYP17A1</a> (10q24.32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008730" target="_blank">MONDO:0008730</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/202110" target="_blank">202110</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=90793">ORPHA90793</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">
|
||
<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">17 alpha(a)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17a-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17a-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation.<br /><br />Hormone imbalances lead to the characteristic signs and symptoms of 17a-hydroxylase/17,20-lyase deficiency, which include high blood pressure (hypertension), low levels of potassium in the blood (hypokalemia), and abnormal sexual development. The severity of the features varies. Two forms of the condition are recognized: complete 17a-hydroxylase/17,20-lyase deficiency, which is more severe, and partial 17a-hydroxylase/17,20-lyase deficiency, which is typically less so.<br /><br />Males and females are affected by disruptions to sexual development differently. Females (who have two X chromosomes) with 17a-hydroxylase/17,20-lyase deficiency are born with normal external female genitalia; however, the internal reproductive organs, including the uterus and ovaries, may be underdeveloped. Women with complete 17a-hydroxylase/17,20-lyase deficiency do not develop secondary sex characteristics, such as breasts and pubic hair, and do not menstruate (amenorrhea). Women with partial 17a-hydroxylase/17,20-lyase deficiency may develop some secondary sex characteristics; menstruation is typically irregular or absent. Either form of the disorder results in an inability to conceive a baby (infertility).<br /><br />In affected individuals who are chromosomally male (having an X and a Y chromosome), problems with sexual development lead to abnormalities of the external genitalia. The most severely affected are born with characteristically female external genitalia and are generally raised as females. However, because they do not have female internal reproductive organs, these individuals have amenorrhea and do not develop female secondary sex characteristics. These individuals have testes, but they are abnormally located in the abdomen (undescended). Sometimes, complete 17a-hydroxylase/17,20-lyase deficiency leads to external genitalia that do not look clearly male or clearly female. Males with partial 17a-hydroxylase/17,20-lyase deficiency may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Males with either complete or partial 17a-hydroxylase/17,20-lyase deficiency are also infertile. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</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_115918"><div><strong>Primary amenorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115918</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.">C0232939</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally late or absent menarche in a female with normal secondary sexual characteristics.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115918">Feature record</a> | <a href="/medgen?term=%22Primary%20amenorrhea%22%5BClinical%20Features%5D%20OR%20115918%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68666"><div><strong>Male pseudohermaphroditism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68666</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0238395</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68666">Feature record</a> | <a href="/medgen?term=%22Male%20pseudohermaphroditism%22%5BClinical%20Features%5D%20OR%2068666%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78596"><div><strong>Ambiguous genitalia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78596</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0266362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78596">Feature record</a> | <a href="/medgen?term=%22Ambiguous%20genitalia%22%5BClinical%20Features%5D%20OR%2078596%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_43208"><div><strong>Hypokalemic alkalosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43208</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.">C0085570</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43208">Feature record</a> | <a href="/medgen?term=%22Hypokalemic%20alkalosis%22%5BClinical%20Features%5D%20OR%2043208%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_301220"><div><strong>Adrenal hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301220</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1621895</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of the adrenal gland.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/301220">Feature record</a> | <a href="/medgen?term=%22Adrenal%20hyperplasia%22%5BClinical%20Features%5D%20OR%20301220%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6694"><div><strong>Gynecomastia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6694</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal development of large mammary glands in males resulting in breast enlargement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6694">Feature record</a> | <a href="/medgen?term=%22Gynecomastia%22%5BClinical%20Features%5D%20OR%206694%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43208" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokalemic alkalosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the breast</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gynecomastia</a></span></li></ul></li><li><span class="TLline">Abnormality of the 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_301220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenal hyperplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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></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_78596" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ambiguous genitalia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Male pseudohermaphroditism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary amenorrhea</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="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="matched_ds"><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">Deficiency of steroid 17-alpha-monooxygenase</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/1843061" ref="tree=MeSH" title="MedGen record for 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect">46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect</a></span><ul><li><span class="matched_ds">Deficiency of steroid 17-alpha-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=12096&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Deficiency of steroid 17-alpha-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/36652930">Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dundar I,
|
||
Akinci A,
|
||
Camtosun E,
|
||
Ciftci N,
|
||
Kayas L</span><br />
|
||
<span class="medgenPMjournal">Sex Dev</span>
|
||
2023;17(1):43-50.
|
||
Epub 2023 Jan 18
|
||
doi: 10.1159/000529158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36652930" target="_blank">36652930</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31006099">The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dundar A,
|
||
Bayramov R,
|
||
Onal MG,
|
||
Akkus M,
|
||
Dogan ME,
|
||
Kenanoglu S,
|
||
Cerrah Gunes M,
|
||
Kazimli U,
|
||
Ozbek MN,
|
||
Ercan O,
|
||
Yildirim R,
|
||
Celmeli G,
|
||
Parlak M,
|
||
Dundar I,
|
||
Hatipoglu N,
|
||
Unluhizarci K,
|
||
Akalin H,
|
||
Ozkul Y,
|
||
Saatci C,
|
||
Dundar M</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2019 Aug;46(4):3677-3690.
|
||
Epub 2019 Apr 20
|
||
doi: 10.1007/s11033-019-04809-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31006099" target="_blank">31006099</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(deficiency%20of%20steroid%2017-alpha-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 (10)</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/39020240">17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siklar Z,
|
||
Camtosun E,
|
||
Bolu S,
|
||
Yildiz M,
|
||
Akinci A,
|
||
Bas F,
|
||
Dündar İ,
|
||
Bestas A,
|
||
Ünal E,
|
||
Kocaay P,
|
||
Guran T,
|
||
Buyukyilmaz G,
|
||
Ugurlu AK,
|
||
Tosun BG,
|
||
Turan I,
|
||
Kurnaz E,
|
||
Yuksel B,
|
||
Turkkahraman D,
|
||
Cayir A,
|
||
Celmeli G,
|
||
Gonc EN,
|
||
Eklioğlu BS,
|
||
Cetinkaya S,
|
||
Yilmaz SK,
|
||
Atabek ME,
|
||
Buyukinan M,
|
||
Arslan E,
|
||
Mengen E,
|
||
Cakir EDP,
|
||
Karaoglan M,
|
||
Hatipoglu N,
|
||
Orbak Z,
|
||
Ucar A,
|
||
Akyurek N,
|
||
Akbas ED,
|
||
Isik E,
|
||
Kaygusuz SB,
|
||
Sutcu ZK,
|
||
Seymen G,
|
||
Berberoglu M</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2024 Sep;85(3):1407-1416.
|
||
Epub 2024 Jul 17
|
||
doi: 10.1007/s12020-024-03962-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39020240" target="_blank">39020240</a><a href="/pmc/articles/PMC11316693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36589849">Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang D,
|
||
Yao F,
|
||
Luo M,
|
||
Wang Y,
|
||
Tian T,
|
||
Deng S,
|
||
Tian Q</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:978026.
|
||
Epub 2022 Dec 15
|
||
doi: 10.3389/fendo.2022.978026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36589849" target="_blank">36589849</a><a href="/pmc/articles/PMC9797673" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35937831">New insights on hyperglycemia in 17-hydroxylase/17,20-lyase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu L,
|
||
Lu L,
|
||
Tong A,
|
||
Chen S,
|
||
Li W,
|
||
Zhang H,
|
||
Ping F,
|
||
Li Y</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:917420.
|
||
Epub 2022 Jul 22
|
||
doi: 10.3389/fendo.2022.917420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35937831" target="_blank">35937831</a><a href="/pmc/articles/PMC9354396" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29880708">MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller WL</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2018 Sep;179(3):R125-R141.
|
||
Epub 2018 Jun 7
|
||
doi: 10.1530/EJE-18-0279.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29880708" target="_blank">29880708</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%2017-alpha-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/39020240">17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siklar Z,
|
||
Camtosun E,
|
||
Bolu S,
|
||
Yildiz M,
|
||
Akinci A,
|
||
Bas F,
|
||
Dündar İ,
|
||
Bestas A,
|
||
Ünal E,
|
||
Kocaay P,
|
||
Guran T,
|
||
Buyukyilmaz G,
|
||
Ugurlu AK,
|
||
Tosun BG,
|
||
Turan I,
|
||
Kurnaz E,
|
||
Yuksel B,
|
||
Turkkahraman D,
|
||
Cayir A,
|
||
Celmeli G,
|
||
Gonc EN,
|
||
Eklioğlu BS,
|
||
Cetinkaya S,
|
||
Yilmaz SK,
|
||
Atabek ME,
|
||
Buyukinan M,
|
||
Arslan E,
|
||
Mengen E,
|
||
Cakir EDP,
|
||
Karaoglan M,
|
||
Hatipoglu N,
|
||
Orbak Z,
|
||
Ucar A,
|
||
Akyurek N,
|
||
Akbas ED,
|
||
Isik E,
|
||
Kaygusuz SB,
|
||
Sutcu ZK,
|
||
Seymen G,
|
||
Berberoglu M</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2024 Sep;85(3):1407-1416.
|
||
Epub 2024 Jul 17
|
||
doi: 10.1007/s12020-024-03962-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39020240" target="_blank">39020240</a><a href="/pmc/articles/PMC11316693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32870997">A Curious Case of Primary Amenorrhea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burns AD,
|
||
Taylor NF,
|
||
Taylor DR,
|
||
Bhake RC,
|
||
Rahman F</span><br />
|
||
<span class="medgenPMjournal">Clin Chem</span>
|
||
2020 Sep 1;66(9):1150-1154.
|
||
doi: 10.1093/clinchem/hvaa083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32870997" target="_blank">32870997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24138383">Primary amenorrhoea with hypertension: undiagnosed 17-α-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Britten FL,
|
||
Ulett KB,
|
||
Duncan EL,
|
||
Perry-Keene DA</span><br />
|
||
<span class="medgenPMjournal">Med J Aust</span>
|
||
2013 Oct 21;199(8):556-8.
|
||
doi: 10.5694/mja12.11619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24138383" target="_blank">24138383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22072737">The syndrome of 17,20 lyase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller WL</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2012 Jan;97(1):59-67.
|
||
Epub 2011 Nov 9
|
||
doi: 10.1210/jc.2011-2161.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22072737" target="_blank">22072737</a><a href="/pmc/articles/PMC3251937" target="_blank" class="PubMedFree">Free PMC Article</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%2017-alpha-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 (144)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37032508">Two Cases with 17-alpha Hydroxylase Deficiency Misdiagnosed as Primary Aldosteronism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akkus G</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2023;23(11):1449-1454.
|
||
doi: 10.2174/1871530323666230407125523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37032508" target="_blank">37032508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36120452">Getting pregnant with congenital adrenal hyperplasia: Assisted reproduction and pregnancy complications. A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo X,
|
||
Zhang Y,
|
||
Yu Y,
|
||
Zhang L,
|
||
Ullah K,
|
||
Ji M,
|
||
Jin B,
|
||
Shu J</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:982953.
|
||
Epub 2022 Aug 31
|
||
doi: 10.3389/fendo.2022.982953.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36120452" target="_blank">36120452</a><a href="/pmc/articles/PMC9470834" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26862015">Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auchus RJ</span><br />
|
||
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
|
||
2017 Jan;165(Pt A):71-78.
|
||
Epub 2016 Feb 6
|
||
doi: 10.1016/j.jsbmb.2016.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26862015" target="_blank">26862015</a><a href="/pmc/articles/PMC4976049" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27154414">The hunt for a selective 17,20 lyase inhibitor; learning lessons from nature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bird IM,
|
||
Abbott DH</span><br />
|
||
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
|
||
2016 Oct;163:136-46.
|
||
Epub 2016 May 3
|
||
doi: 10.1016/j.jsbmb.2016.04.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27154414" target="_blank">27154414</a><a href="/pmc/articles/PMC5046225" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15387879">17-Alpha hydroxylase deficiency: an unusual cause of secondary amenorrhoea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Philip J,
|
||
Anjali,
|
||
Thomas N,
|
||
Rajaratnam S,
|
||
Seshadri MS</span><br />
|
||
<span class="medgenPMjournal">Aust N Z J Obstet Gynaecol</span>
|
||
2004 Oct;44(5):477-8.
|
||
doi: 10.1111/j.1479-828X.2004.00275.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15387879" target="_blank">15387879</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20steroid%2017-alpha-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 (55)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35032013">High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Z,
|
||
Lu L,
|
||
Wang O,
|
||
Wu X,
|
||
Sun B,
|
||
Zhang W,
|
||
Wang X,
|
||
Mao J,
|
||
Chen S,
|
||
Tong A,
|
||
Nie M</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2022 Apr;76(1):151-161.
|
||
Epub 2022 Jan 14
|
||
doi: 10.1007/s12020-021-02966-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35032013" target="_blank">35032013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34524979">The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun M,
|
||
Mueller JW,
|
||
Gilligan LC,
|
||
Taylor AE,
|
||
Shaheen F,
|
||
Noczyńska A,
|
||
T'Sjoen G,
|
||
Denvir L,
|
||
Shenoy S,
|
||
Fulton P,
|
||
Cheetham TD,
|
||
Gleeson H,
|
||
Rahman M,
|
||
Krone NP,
|
||
Taylor NF,
|
||
Shackleton CHL,
|
||
Arlt W,
|
||
Idkowiak J</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2021 Oct 11;185(5):729-741.
|
||
doi: 10.1530/EJE-21-0152.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34524979" target="_blank">34524979</a><a href="/pmc/articles/PMC8558848" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18821019">Adrenal changes associated with adrenarche.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura Y,
|
||
Gang HX,
|
||
Suzuki T,
|
||
Sasano H,
|
||
Rainey WE</span><br />
|
||
<span class="medgenPMjournal">Rev Endocr Metab Disord</span>
|
||
2009 Mar;10(1):19-26.
|
||
doi: 10.1007/s11154-008-9092-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18821019" target="_blank">18821019</a><a href="/pmc/articles/PMC3712864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18259105">Genetic and clinical features of p450 oxidoreductase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scott RR,
|
||
Miller WL</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
2008;69(5):266-75.
|
||
Epub 2008 Feb 6
|
||
doi: 10.1159/000114857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18259105" target="_blank">18259105</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22217842">Molecular basis of 17α-hydroxylase/17,20-lyase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yanase T,
|
||
Imai T,
|
||
Simpson ER,
|
||
Waterman MR</span><br />
|
||
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
|
||
1992 Dec;43(8):973-9.
|
||
doi: 10.1016/0960-0760(92)90325-D.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22217842" target="_blank">22217842</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20steroid%2017-alpha-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 (34)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37683689">Congenital adrenal hyperplasia disorder due to 17 α-hydroxylase deficiency: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tian Y,
|
||
Hou L,
|
||
Xiang S,
|
||
Tian X,
|
||
Xu J</span><br />
|
||
<span class="medgenPMjournal">Gynecol Endocrinol</span>
|
||
2023 Aug 18;39(1):2250001.
|
||
doi: 10.1080/09513590.2023.2250001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37683689" target="_blank">37683689</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35043964">Phenotypic Heterogeneity and Fertility Potential of Patients With 17-Hydroxylase/17,20-lyase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu Y,
|
||
Jiang S,
|
||
Yan Z,
|
||
Niu Y,
|
||
Du W,
|
||
Liu B,
|
||
Han B,
|
||
Liu X,
|
||
Zhao S,
|
||
Song H,
|
||
Kuang Y,
|
||
Qiao J</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 May 17;107(6):e2610-e2618.
|
||
doi: 10.1210/clinem/dgac029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35043964" target="_blank">35043964</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33547012">Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xia J,
|
||
Liu F,
|
||
Wu J,
|
||
Xia Y,
|
||
Zhao Z,
|
||
Zhao Y,
|
||
Ren H,
|
||
Kong X</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2021 Feb;27(2):137-145.
|
||
Epub 2020 Dec 8
|
||
doi: 10.4158/EP-2020-0478.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33547012" target="_blank">33547012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31745978">Prediction of clinical benefit from androgen deprivation therapy in salivary duct carcinoma patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Boxtel W,
|
||
Verhaegh GW,
|
||
van Engen-van Grunsven IA,
|
||
van Strijp D,
|
||
Kroeze LI,
|
||
Ligtenberg MJ,
|
||
van Zon HB,
|
||
Hendriksen Y,
|
||
Keizer D,
|
||
van de Stolpe A,
|
||
Schalken JA,
|
||
van Herpen CM</span><br />
|
||
<span class="medgenPMjournal">Int J Cancer</span>
|
||
2020 Jun 1;146(11):3196-3206.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1002/ijc.32795.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31745978" target="_blank">31745978</a><a href="/pmc/articles/PMC7187215" target="_blank" class="PubMedFree">Free PMC Article</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%2017-alpha-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 (61)</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/36120452">Getting pregnant with congenital adrenal hyperplasia: Assisted reproduction and pregnancy complications. A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo X,
|
||
Zhang Y,
|
||
Yu Y,
|
||
Zhang L,
|
||
Ullah K,
|
||
Ji M,
|
||
Jin B,
|
||
Shu J</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:982953.
|
||
Epub 2022 Aug 31
|
||
doi: 10.3389/fendo.2022.982953.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36120452" target="_blank">36120452</a><a href="/pmc/articles/PMC9470834" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%20steroid%2017-alpha-monooxygenase%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
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||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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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_content ln"><ul id="my-toc"></ul></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=C0268285%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268285%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (39)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268285%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268285%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268285%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (52)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268285%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (13)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268285%5bDISCUI%5d" target="_blank">See all (61)</a></total></li>
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</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=202110" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=90793" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Deficiency%20of%20steroid%2017-alpha-monooxygenase" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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%2017-alpha-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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|
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|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=609300" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1586[geneid]" target="_blank">View CYP17A1 variations in ClinVar</a></li><li><a href="/nuccore/189339218" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=202110" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/adrenal_hyperplasia_congenital_due_to_17_alpha_hydroxylase_deficiency" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Deficiency%20of%20steroid%2017-alpha-monooxygenase" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/17-alpha-hydroxylase-17-20-lyase-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/1469/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
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||
<div class="portlet_content">
|
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<ul>
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||
<li>
|
||
<a href="/pubmed/clinical?term=Deficiency%20of%20steroid%2017-alpha-monooxygenase" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Deficiency%20of%20steroid%2017-alpha-monooxygenase%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
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||
</div>
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||
<div class="portlet_content DiscoveryDbLinks">
|
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<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=82782" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=82782" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0268285[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0268285[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=82782" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=82782" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=82782" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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