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<!--
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UID=868802
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ConceptID=C4023212
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of adrenal physiology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868802</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.">C4023212</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011733">HP:0011733</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">A functional abnormality of the adrenal glands. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<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>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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">Abnormality of adrenal physiology</span></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/892577" ref="tree=MeSH" title="MedGen record for Abnormality of the adrenal glands">Abnormality of the adrenal glands</a></span><ul><li><span class="matched_ds">Abnormality of adrenal physiology</span><ul><li><span class="TLline"><a href="/medgen/1351" ref="tree=MeSH" title="MedGen record for Adrenal insufficiency">Adrenal insufficiency</a></span><ul><li><span class="TLline"><a href="/medgen/57667" ref="tree=MeSH" title="MedGen record for Adrenoleukodystrophy">Adrenoleukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/315918" ref="tree=MeSH" title="MedGen record for Adrenomyeloneuropathy">Adrenomyeloneuropathy</a></span></li><li><span class="TLline"><a href="/medgen/1641046" ref="tree=MeSH" title="MedGen record for Cerebral Adrenoleukodystrophy">Cerebral Adrenoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1708324" ref="tree=MeSH" title="MedGen record for X-linked cerebral adrenoleukodystrophy">X-linked cerebral adrenoleukodystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/43793" ref="tree=MeSH" title="MedGen record for Aldosterone deficiency">Aldosterone deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/927518" ref="tree=MeSH" title="MedGen record for Aldosterone Synthase Deficiency">Aldosterone Synthase Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/87662" ref="tree=MeSH" title="MedGen record for Hyperkalemic renal tubular acidosis">Hyperkalemic renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/575058" ref="tree=MeSH" title="MedGen record for Hyperreninemic hypoaldosteronism">Hyperreninemic hypoaldosteronism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/184925" ref="tree=MeSH" title="MedGen record for Central adrenal insufficiency">Central adrenal insufficiency</a></span><ul><li><span class="TLline"><a href="/medgen/868801" ref="tree=MeSH" title="MedGen record for Adrenocorticotropin deficient adrenal insufficiency">Adrenocorticotropin deficient adrenal insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/867190" ref="tree=MeSH" title="MedGen record for Adrenocorticotropin receptor defect">Adrenocorticotropin receptor defect</a></span></li><li><span class="TLline"><a href="/medgen/866776" ref="tree=MeSH" title="MedGen record for Corticotropin-releasing hormone deficient adrenal insufficiency">Corticotropin-releasing hormone deficient adrenal insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/892780" ref="tree=MeSH" title="MedGen record for Corticotropin-releasing hormone receptor defect">Corticotropin-releasing hormone receptor defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/854614" ref="tree=MeSH" title="MedGen record for Primary adrenal insufficiency">Primary adrenal insufficiency</a></span><ul><li><span class="TLline"><a href="/medgen/56227" ref="tree=MeSH" title="MedGen record for Acute adrenal insufficiency">Acute adrenal insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/1324" ref="tree=MeSH" title="MedGen record for Primary adrenocortical insufficiency">Primary adrenocortical insufficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/53065" ref="tree=MeSH" title="MedGen record for Waterhouse-Friderichsen Syndrome">Waterhouse-Friderichsen Syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871206" ref="tree=MeSH" title="MedGen record for Adrenal overactivity">Adrenal overactivity</a></span></li><li><span class="TLline"><a href="/medgen/18721" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism">Pseudohypoaldosteronism</a></span><ul><li><span class="TLline"><a href="/medgen/82805" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism type 1">Pseudohypoaldosteronism type 1</a></span><ul><li><span class="TLline"><a href="/medgen/260623" ref="tree=MeSH" title="MedGen record for Autosomal dominant pseudohypoaldosteronism type 1">Autosomal dominant pseudohypoaldosteronism type 1</a></span></li><li><span class="TLline"><a href="/medgen/1823950" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism, type IB1, autosomal recessive">Pseudohypoaldosteronism, type IB1, autosomal recessive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/259599" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism, type 2">Pseudohypoaldosteronism, type 2</a></span><ul><li><span class="TLline"><a href="/medgen/327088" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism type 2A">Pseudohypoaldosteronism type 2A</a></span></li><li><span class="TLline"><a href="/medgen/374457" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism type 2B">Pseudohypoaldosteronism type 2B</a></span></li><li><span class="TLline"><a href="/medgen/327089" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism type 2C">Pseudohypoaldosteronism type 2C</a></span></li><li><span class="TLline"><a href="/medgen/483335" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism type 2D">Pseudohypoaldosteronism type 2D</a></span></li><li><span class="TLline"><a href="/medgen/483336" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism type 2E">Pseudohypoaldosteronism type 2E</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/900190" ref="tree=MeSH" title="MedGen record for Transient pseudohypoaldosteronism">Transient pseudohypoaldosteronism</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_477091"><div><strong>Syndromic X-linked intellectual disability 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477091</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.">C3275460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477091">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability 17</a></div></div>
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||
</div>
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|
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<div class="portlet mgSection" id="ID_105">
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||
<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>
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||
<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/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/32724183">Pathogenesis and treatment of primary aldosteronism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zennaro MC,
|
||
Boulkroun S,
|
||
Fernandes-Rosa FL</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2020 Oct;16(10):578-589.
|
||
Epub 2020 Jul 28
|
||
doi: 10.1038/s41574-020-0382-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32724183" target="_blank">32724183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31012139">POEMS Syndrome: 2019 Update on diagnosis, risk-stratification, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dispenzieri A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2019 Jul;94(7):812-827.
|
||
Epub 2019 May 23
|
||
doi: 10.1002/ajh.25495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31012139" target="_blank">31012139</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20adrenal%20physiology)%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 (761)</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/34735372">Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prete A,
|
||
Auchus RJ,
|
||
Ross RJ</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2021 Nov 30;186(1):R1-R14.
|
||
doi: 10.1530/EJE-21-0794.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34735372" target="_blank">34735372</a><a href="/pmc/articles/PMC8679847" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29503125">Disorders of sex development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Witchel SF</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2018 Apr;48:90-102.
|
||
Epub 2017 Nov 22
|
||
doi: 10.1016/j.bpobgyn.2017.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29503125" target="_blank">29503125</a><a href="/pmc/articles/PMC5866176" 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/27629598">Major depressive disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Otte C,
|
||
Gold SM,
|
||
Penninx BW,
|
||
Pariante CM,
|
||
Etkin A,
|
||
Fava M,
|
||
Mohr DC,
|
||
Schatzberg AF</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2016 Sep 15;2:16065.
|
||
doi: 10.1038/nrdp.2016.65.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27629598" target="_blank">27629598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21858482">Asthma and pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vatti RR,
|
||
Teuber SS</span><br />
|
||
<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
|
||
2012 Aug;43(1-2):45-56.
|
||
doi: 10.1007/s12016-011-8277-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21858482" target="_blank">21858482</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20adrenal%20physiology%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 (3189)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/32724183">Pathogenesis and treatment of primary aldosteronism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zennaro MC,
|
||
Boulkroun S,
|
||
Fernandes-Rosa FL</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2020 Oct;16(10):578-589.
|
||
Epub 2020 Jul 28
|
||
doi: 10.1038/s41574-020-0382-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32724183" target="_blank">32724183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27629598">Major depressive disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Otte C,
|
||
Gold SM,
|
||
Penninx BW,
|
||
Pariante CM,
|
||
Etkin A,
|
||
Fava M,
|
||
Mohr DC,
|
||
Schatzberg AF</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2016 Sep 15;2:16065.
|
||
doi: 10.1038/nrdp.2016.65.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27629598" target="_blank">27629598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12930931">Congenital adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Speiser PW,
|
||
White PC</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2003 Aug 21;349(8):776-88.
|
||
doi: 10.1056/NEJMra021561.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12930931" target="_blank">12930931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5388335">Amenorrhea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marchant DJ</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
1969 Sep;12(3):693-707.
|
||
doi: 10.1097/00003081-196909000-00010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5388335" target="_blank">5388335</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20adrenal%20physiology%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 (4505)</a></div><h3 class="subhead">Therapy</h3>
|
||
<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/31677111">Female Androgenetic Alopecia: An Update on Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Starace M,
|
||
Orlando G,
|
||
Alessandrini A,
|
||
Piraccini BM</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2020 Feb;21(1):69-84.
|
||
doi: 10.1007/s40257-019-00479-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31677111" target="_blank">31677111</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 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/27629598">Major depressive disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Otte C,
|
||
Gold SM,
|
||
Penninx BW,
|
||
Pariante CM,
|
||
Etkin A,
|
||
Fava M,
|
||
Mohr DC,
|
||
Schatzberg AF</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2016 Sep 15;2:16065.
|
||
doi: 10.1038/nrdp.2016.65.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27629598" target="_blank">27629598</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20adrenal%20physiology%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 (2759)</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/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/16798284">Nonclassic adrenal hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moran C</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2006 Jul;86 Suppl 1:S3.
|
||
doi: 10.1016/j.fertnstert.2006.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16798284" target="_blank">16798284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16798278">Nonclassic 21-hydroxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">New MI</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2006 Jul;86 Suppl 1:S2.
|
||
doi: 10.1016/j.fertnstert.2006.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16798278" target="_blank">16798278</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4183810">Fetal growth retardation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Aust N Z J Obstet Gynaecol</span>
|
||
1969 May;9(2):75-81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4183810" target="_blank">4183810</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20adrenal%20physiology%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 (1631)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29445860">Origin and initiation mechanisms of neuroblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsubota S,
|
||
Kadomatsu K</span><br />
|
||
<span class="medgenPMjournal">Cell Tissue Res</span>
|
||
2018 May;372(2):211-221.
|
||
Epub 2018 Feb 14
|
||
doi: 10.1007/s00441-018-2796-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29445860" target="_blank">29445860</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23652670">Carney complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Espiard S,
|
||
Bertherat J</span><br />
|
||
<span class="medgenPMjournal">Front Horm Res</span>
|
||
2013;41:50-62.
|
||
Epub 2013 Mar 19
|
||
doi: 10.1159/000345669.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23652670" target="_blank">23652670</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21249603">The influence of pituitary, adrenal, and parathyroid hormones on hemostasis and thrombosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Squizzato A,
|
||
Van Zaane B,
|
||
Gerdes VE,
|
||
Büller HR</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2011 Feb;37(1):41-8.
|
||
Epub 2011 Jan 19
|
||
doi: 10.1055/s-0030-1270070.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21249603" target="_blank">21249603</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 class="nl"><a target="_blank" href="/pubmed/11443850">von Hippel-Lindau disease: genetic and clinical observations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iliopoulos O</span><br />
|
||
<span class="medgenPMjournal">Front Horm Res</span>
|
||
2001;28:131-66.
|
||
doi: 10.1159/000061052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11443850" target="_blank">11443850</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20adrenal%20physiology%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 (2286)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/36896586">Adrenal Medullary Hyperplasia: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ganni R,
|
||
Torpy DJ,
|
||
Falhammar H,
|
||
Louise Rushworth R</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2023 Aug 18;108(9):e885-e892.
|
||
doi: 10.1210/clinem/dgad121.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36896586" target="_blank">36896586</a><a href="/pmc/articles/PMC10438876" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/36480134">Pediatric endocrinopathies related to COVID-19: an update.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Memar EHE,
|
||
Mohsenipour R,
|
||
Sadrosadat ST,
|
||
Rostami P</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2023 Sep;19(9):823-834.
|
||
Epub 2022 Dec 8
|
||
doi: 10.1007/s12519-022-00662-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36480134" target="_blank">36480134</a><a href="/pmc/articles/PMC9734372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/32998030">Digit ratio (2D:4D) and congenital adrenal hyperplasia (CAH): Systematic literature review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richards G,
|
||
Browne WV,
|
||
Aydin E,
|
||
Constantinescu M,
|
||
Nave G,
|
||
Kim MS,
|
||
Watson SJ</span><br />
|
||
<span class="medgenPMjournal">Horm Behav</span>
|
||
2020 Nov;126:104867.
|
||
Epub 2020 Oct 6
|
||
doi: 10.1016/j.yhbeh.2020.104867.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32998030" target="_blank">32998030</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28770635">Natural history and treatment of cutaneous and systemic mastocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le M,
|
||
Miedzybrodzki B,
|
||
Olynych T,
|
||
Chapdelaine H,
|
||
Ben-Shoshan M</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med</span>
|
||
2017 Nov;129(8):896-901.
|
||
Epub 2017 Aug 21
|
||
doi: 10.1080/00325481.2017.1364124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28770635" target="_blank">28770635</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20adrenal%20physiology%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 (47)</a></div></div>
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