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<meta name="keywords" content="C4540522, disease or syndrome, gccd5, glucocorticoid deficiency 5, txnrd2, 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="Familial glucocorticoid deficiency-5 (GCCD5) is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1614419
|
||
ConceptID=C4540522
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glucocorticoid deficiency 5<span class="h1sub">(GCCD5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1614419</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:">C4540522</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>GCCD5; GLUCOCORTICOID DEFICIENCY 5</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="TXNRD2 - ID: 10587 - NCBI Gene" href="/gene/10587" class="medgenPMinfo">TXNRD2</a> (22q11.21)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0040502" target="_blank">MONDO:0040502</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617825" target="_blank">617825</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Familial glucocorticoid deficiency-5 (GCCD5) is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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_57992"><div><strong>Hyperpigmentation of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57992</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A darkening of the skin related to an increase in melanin production and deposition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57992">Feature record</a> | <a href="/medgen?term=%22Hyperpigmentation%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%2057992%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322961"><div><strong>Decreased circulating cortisol level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322961</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.">C1836623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally reduced concentration of cortisol in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322961">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20cortisol%20level%22%5BClinical%20Features%5D%20OR%20322961%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1392823"><div><strong>Abnormal response to ACTH stimulation test</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1392823</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.">C4476953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomalous response to stimulation by administration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1392823">Feature record</a> | <a href="/medgen?term=%22Abnormal%20response%20to%20ACTH%20stimulation%20test%22%5BClinical%20Features%5D%20OR%201392823%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 the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1392823" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal response to ACTH stimulation test</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322961" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating cortisol level</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperpigmentation of the skin</a></span></li></ul></li></ul></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/39317417">EULAR/PReS recommendations for the diagnosis and management of Still's disease, comprising systemic juvenile idiopathic arthritis and adult-onset Still's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fautrel B,
|
||
Mitrovic S,
|
||
De Matteis A,
|
||
Bindoli S,
|
||
Antón J,
|
||
Belot A,
|
||
Bracaglia C,
|
||
Constantin T,
|
||
Dagna L,
|
||
Di Bartolo A,
|
||
Feist E,
|
||
Foell D,
|
||
Gattorno M,
|
||
Georgin-Lavialle S,
|
||
Giacomelli R,
|
||
Grom AA,
|
||
Jamilloux Y,
|
||
Laskari K,
|
||
Lazar C,
|
||
Minoia F,
|
||
Nigrovic PA,
|
||
Oliveira Ramos F,
|
||
Ozen S,
|
||
Quartier P,
|
||
Ruscitti P,
|
||
Sag E,
|
||
Savic S,
|
||
Truchetet ME,
|
||
Vastert SJ,
|
||
Wilhelmer TC,
|
||
Wouters C,
|
||
Carmona L,
|
||
De Benedetti F</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2024 Nov 14;83(12):1614-1627.
|
||
doi: 10.1136/ard-2024-225851.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39317417" target="_blank">39317417</a><a href="/pmc/articles/PMC11672000" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36137844">AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green PHR,
|
||
Paski S,
|
||
Ko CW,
|
||
Rubio-Tapia A</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2022 Nov;163(5):1461-1469.
|
||
Epub 2022 Sep 19
|
||
doi: 10.1053/j.gastro.2022.07.086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36137844" target="_blank">36137844</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34297684">The 2021 European Group on Graves' orbitopathy (EUGOGO) clinical practice guidelines for the medical management of Graves' orbitopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartalena L,
|
||
Kahaly GJ,
|
||
Baldeschi L,
|
||
Dayan CM,
|
||
Eckstein A,
|
||
Marcocci C,
|
||
Marinò M,
|
||
Vaidya B,
|
||
Wiersinga WM;
|
||
EUGOGO †</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2021 Aug 27;185(4):G43-G67.
|
||
doi: 10.1530/EJE-21-0479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34297684" target="_blank">34297684</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(glucocorticoid%20deficiency%205)%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 (93)</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/38034003">X-linked adrenoleukodystrophy and primary adrenal insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cappa M,
|
||
Todisco T,
|
||
Bizzarri C</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1309053.
|
||
Epub 2023 Nov 16
|
||
doi: 10.3389/fendo.2023.1309053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38034003" target="_blank">38034003</a><a href="/pmc/articles/PMC10687143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36208961">Risk factors for osteoporosis and fractures in rheumatoid arthritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baker R,
|
||
Narla R,
|
||
Baker JF,
|
||
Wysham KD</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2022 Sep;36(3):101773.
|
||
Epub 2022 Oct 5
|
||
doi: 10.1016/j.berh.2022.101773.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36208961" target="_blank">36208961</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35254428">Should Dehydroepiandrosterone Be Administered to Women?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wierman ME,
|
||
Kiseljak-Vassiliades K</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 May 17;107(6):1679-1685.
|
||
doi: 10.1210/clinem/dgac130.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35254428" target="_blank">35254428</a><a href="/pmc/articles/PMC9113789" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34297684">The 2021 European Group on Graves' orbitopathy (EUGOGO) clinical practice guidelines for the medical management of Graves' orbitopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartalena L,
|
||
Kahaly GJ,
|
||
Baldeschi L,
|
||
Dayan CM,
|
||
Eckstein A,
|
||
Marcocci C,
|
||
Marinò M,
|
||
Vaidya B,
|
||
Wiersinga WM;
|
||
EUGOGO †</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2021 Aug 27;185(4):G43-G67.
|
||
doi: 10.1530/EJE-21-0479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34297684" target="_blank">34297684</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1093459">Hyaline membrane disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farrell PM,
|
||
Avery ME</span><br />
|
||
<span class="medgenPMjournal">Am Rev Respir Dis</span>
|
||
1975 May;111(5):657-88.
|
||
doi: 10.1164/arrd.1975.111.5.657.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1093459" target="_blank">1093459</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucocorticoid%20deficiency%205%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 (528)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39317417">EULAR/PReS recommendations for the diagnosis and management of Still's disease, comprising systemic juvenile idiopathic arthritis and adult-onset Still's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fautrel B,
|
||
Mitrovic S,
|
||
De Matteis A,
|
||
Bindoli S,
|
||
Antón J,
|
||
Belot A,
|
||
Bracaglia C,
|
||
Constantin T,
|
||
Dagna L,
|
||
Di Bartolo A,
|
||
Feist E,
|
||
Foell D,
|
||
Gattorno M,
|
||
Georgin-Lavialle S,
|
||
Giacomelli R,
|
||
Grom AA,
|
||
Jamilloux Y,
|
||
Laskari K,
|
||
Lazar C,
|
||
Minoia F,
|
||
Nigrovic PA,
|
||
Oliveira Ramos F,
|
||
Ozen S,
|
||
Quartier P,
|
||
Ruscitti P,
|
||
Sag E,
|
||
Savic S,
|
||
Truchetet ME,
|
||
Vastert SJ,
|
||
Wilhelmer TC,
|
||
Wouters C,
|
||
Carmona L,
|
||
De Benedetti F</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2024 Nov 14;83(12):1614-1627.
|
||
doi: 10.1136/ard-2024-225851.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39317417" target="_blank">39317417</a><a href="/pmc/articles/PMC11672000" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38034003">X-linked adrenoleukodystrophy and primary adrenal insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cappa M,
|
||
Todisco T,
|
||
Bizzarri C</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1309053.
|
||
Epub 2023 Nov 16
|
||
doi: 10.3389/fendo.2023.1309053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38034003" target="_blank">38034003</a><a href="/pmc/articles/PMC10687143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35608383">Chediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Safavi M,
|
||
Parvaneh N</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2023 Apr;42(2):259-262.
|
||
Epub 2022 May 24
|
||
doi: 10.1080/15513815.2022.2077489.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35608383" target="_blank">35608383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36137844">AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green PHR,
|
||
Paski S,
|
||
Ko CW,
|
||
Rubio-Tapia A</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2022 Nov;163(5):1461-1469.
|
||
Epub 2022 Sep 19
|
||
doi: 10.1053/j.gastro.2022.07.086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36137844" target="_blank">36137844</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29773874">Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashraf S,
|
||
Kudo H,
|
||
Rao J,
|
||
Kikuchi A,
|
||
Widmeier E,
|
||
Lawson JA,
|
||
Tan W,
|
||
Hermle T,
|
||
Warejko JK,
|
||
Shril S,
|
||
Airik M,
|
||
Jobst-Schwan T,
|
||
Lovric S,
|
||
Braun DA,
|
||
Gee HY,
|
||
Schapiro D,
|
||
Majmundar AJ,
|
||
Sadowski CE,
|
||
Pabst WL,
|
||
Daga A,
|
||
van der Ven AT,
|
||
Schmidt JM,
|
||
Low BC,
|
||
Gupta AB,
|
||
Tripathi BK,
|
||
Wong J,
|
||
Campbell K,
|
||
Metcalfe K,
|
||
Schanze D,
|
||
Niihori T,
|
||
Kaito H,
|
||
Nozu K,
|
||
Tsukaguchi H,
|
||
Tanaka R,
|
||
Hamahira K,
|
||
Kobayashi Y,
|
||
Takizawa T,
|
||
Funayama R,
|
||
Nakayama K,
|
||
Aoki Y,
|
||
Kumagai N,
|
||
Iijima K,
|
||
Fehrenbach H,
|
||
Kari JA,
|
||
El Desoky S,
|
||
Jalalah S,
|
||
Bogdanovic R,
|
||
Stajić N,
|
||
Zappel H,
|
||
Rakhmetova A,
|
||
Wassmer SR,
|
||
Jungraithmayr T,
|
||
Strehlau J,
|
||
Kumar AS,
|
||
Bagga A,
|
||
Soliman NA,
|
||
Mane SM,
|
||
Kaufman L,
|
||
Lowy DR,
|
||
Jairajpuri MA,
|
||
Lifton RP,
|
||
Pei Y,
|
||
Zenker M,
|
||
Kure S,
|
||
Hildebrandt F</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2018 May 17;9(1):1960.
|
||
doi: 10.1038/s41467-018-04193-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29773874" target="_blank">29773874</a><a href="/pmc/articles/PMC5958119" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucocorticoid%20deficiency%205%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 (501)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38034003">X-linked adrenoleukodystrophy and primary adrenal insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cappa M,
|
||
Todisco T,
|
||
Bizzarri C</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1309053.
|
||
Epub 2023 Nov 16
|
||
doi: 10.3389/fendo.2023.1309053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38034003" target="_blank">38034003</a><a href="/pmc/articles/PMC10687143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35254428">Should Dehydroepiandrosterone Be Administered to Women?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wierman ME,
|
||
Kiseljak-Vassiliades K</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 May 17;107(6):1679-1685.
|
||
doi: 10.1210/clinem/dgac130.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35254428" target="_blank">35254428</a><a href="/pmc/articles/PMC9113789" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/32017012">Guidelines for the management of glucocorticoids during the peri-operative period for patients with adrenal insufficiency: Guidelines from the Association of Anaesthetists, the Royal College of Physicians and the Society for Endocrinology UK.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woodcock T,
|
||
Barker P,
|
||
Daniel S,
|
||
Fletcher S,
|
||
Wass JAH,
|
||
Tomlinson JW,
|
||
Misra U,
|
||
Dattani M,
|
||
Arlt W,
|
||
Vercueil A</span><br />
|
||
<span class="medgenPMjournal">Anaesthesia</span>
|
||
2020 May;75(5):654-663.
|
||
Epub 2020 Feb 3
|
||
doi: 10.1111/anae.14963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32017012" target="_blank">32017012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1093459">Hyaline membrane disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farrell PM,
|
||
Avery ME</span><br />
|
||
<span class="medgenPMjournal">Am Rev Respir Dis</span>
|
||
1975 May;111(5):657-88.
|
||
doi: 10.1164/arrd.1975.111.5.657.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1093459" target="_blank">1093459</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucocorticoid%20deficiency%205%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 (739)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36137844">AGA Clinical Practice Update on Management of Refractory Celiac Disease: Expert Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green PHR,
|
||
Paski S,
|
||
Ko CW,
|
||
Rubio-Tapia A</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2022 Nov;163(5):1461-1469.
|
||
Epub 2022 Sep 19
|
||
doi: 10.1053/j.gastro.2022.07.086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36137844" target="_blank">36137844</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34297684">The 2021 European Group on Graves' orbitopathy (EUGOGO) clinical practice guidelines for the medical management of Graves' orbitopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartalena L,
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Kahaly GJ,
|
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Baldeschi L,
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Dayan CM,
|
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Eckstein A,
|
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Marcocci C,
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Marinò M,
|
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Vaidya B,
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Wiersinga WM;
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EUGOGO †</span><br />
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<span class="medgenPMjournal">Eur J Endocrinol</span>
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2021 Aug 27;185(4):G43-G67.
|
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|
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<span class="bold">PMID: </span><a href="/pubmed/34297684" target="_blank">34297684</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/33527139">Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Merke DP,
|
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Mallappa A,
|
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Arlt W,
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Brac de la Perriere A,
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Lindén Hirschberg A,
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Juul A,
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Newell-Price J,
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Perry CG,
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Prete A,
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Rees DA,
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Reisch N,
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Touraine P,
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2021 Apr 23;106(5):e2063-e2077.
|
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doi: 10.1210/clinem/dgab051.
|
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<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>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/19730969">A review of drug-induced hypocalcemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Liamis G,
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Milionis HJ,
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Elisaf M</span><br />
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<span class="medgenPMjournal">J Bone Miner Metab</span>
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doi: 10.1007/s00774-009-0119-x.
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<span class="bold">PMID: </span><a href="/pubmed/19730969" target="_blank">19730969</a></div>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/1093459">Hyaline membrane disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Farrell PM,
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Avery ME</span><br />
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<span class="medgenPMjournal">Am Rev Respir Dis</span>
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<span class="bold">PMID: </span><a href="/pubmed/1093459" target="_blank">1093459</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucocorticoid%20deficiency%205%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 (243)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38530258">Common Oral Conditions: A Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stoopler ET,
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Villa A,
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Bindakhil M,
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Díaz DLO,
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Sollecito TP</span><br />
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<span class="medgenPMjournal">JAMA</span>
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2024 Mar 26;331(12):1045-1054.
|
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doi: 10.1001/jama.2024.0953.
|
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<span class="bold">PMID: </span><a href="/pubmed/38530258" target="_blank">38530258</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38034003">X-linked adrenoleukodystrophy and primary adrenal insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cappa M,
|
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Todisco T,
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Bizzarri C</span><br />
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
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2023;14:1309053.
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||
Epub 2023 Nov 16
|
||
doi: 10.3389/fendo.2023.1309053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38034003" target="_blank">38034003</a><a href="/pmc/articles/PMC10687143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35254428">Should Dehydroepiandrosterone Be Administered to Women?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wierman ME,
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Kiseljak-Vassiliades K</span><br />
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
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2022 May 17;107(6):1679-1685.
|
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doi: 10.1210/clinem/dgac130.
|
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<span class="bold">PMID: </span><a href="/pubmed/35254428" target="_blank">35254428</a><a href="/pmc/articles/PMC9113789" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/1093459">Hyaline membrane disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farrell PM,
|
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Avery ME</span><br />
|
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<span class="medgenPMjournal">Am Rev Respir Dis</span>
|
||
1975 May;111(5):657-88.
|
||
doi: 10.1164/arrd.1975.111.5.657.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1093459" target="_blank">1093459</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucocorticoid%20deficiency%205%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 (393)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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 class="nl"><a target="_blank" href="/pubmed/35731516">Cortisol Levels During Acute Illnesses in Children and Adolescents: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rezai M,
|
||
Fullwood C,
|
||
Hird B,
|
||
Chawla M,
|
||
Tetlow L,
|
||
Banerjee I,
|
||
Patel L</span><br />
|
||
<span class="medgenPMjournal">JAMA Netw Open</span>
|
||
2022 Jun 1;5(6):e2217812.
|
||
doi: 10.1001/jamanetworkopen.2022.17812.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35731516" target="_blank">35731516</a><a href="/pmc/articles/PMC9218852" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29748073">Pyoderma gangrenosum after breast surgery: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ehrl DC,
|
||
Heidekrueger PI,
|
||
Broer PN</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2018 Jul;71(7):1023-1032.
|
||
Epub 2018 Mar 28
|
||
doi: 10.1016/j.bjps.2018.03.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29748073" target="_blank">29748073</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28540625">Pituitary dysfunction in granulomatosis with polyangiitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Esposito D,
|
||
Trimpou P,
|
||
Giugliano D,
|
||
Dehlin M,
|
||
Ragnarsson O</span><br />
|
||
<span class="medgenPMjournal">Pituitary</span>
|
||
2017 Oct;20(5):594-601.
|
||
doi: 10.1007/s11102-017-0811-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28540625" target="_blank">28540625</a><a href="/pmc/articles/PMC5606941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25715669">Chrousos syndrome: from molecular pathogenesis to therapeutic management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolaides NC,
|
||
Charmandari E</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Invest</span>
|
||
2015 May;45(5):504-14.
|
||
Epub 2015 Mar 23
|
||
doi: 10.1111/eci.12426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25715669" target="_blank">25715669</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucocorticoid%20deficiency%205%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 (11)</a></div></div>
|
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4540522%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
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<li><a href="/gtr/tests?term=C4540522%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C4540522%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C4540522%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4540522%5bDISCUI%5d" target="_blank">See all (14)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(glucocorticoid%20deficiency%205)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=606448" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=10587[geneid]" target="_blank">View TXNRD2 variations in ClinVar</a></li><li><a href="/nuccore/226530111" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=617825" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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