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<meta name="keywords" content="C3553587, disease or syndrome, familial glucocorticoid deficiency caused by mutation in nnt, familial glucocorticoid deficiency type 4, gccd4, glucocorticoid deficiency 4, glucocorticoid deficiency 4 with or without mineralocorticoid deficiency, glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, glucocorticoid deficiency type 4, nnt, nnt familial glucocorticoid 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="Familial glucocorticoid deficiency (GCCD) is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012). 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=766501
|
||
ConceptID=C3553587
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glucocorticoid deficiency 4<span class="h1sub">(GCCD4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766501</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:">C3553587</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency</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="NNT - ID: 23530 - NCBI Gene" href="/gene/23530" class="medgenPMinfo">NNT</a> (5p12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013874" target="_blank">MONDO:0013874</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614736" target="_blank">614736</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Familial glucocorticoid deficiency (GCCD) is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012). 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>
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||
|
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<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />There are multiple types of familial glucocorticoid deficiency, which are distinguished by their genetic cause.<br /><br />A shortage of adrenal hormones (adrenal insufficiency) causes the signs and symptoms of familial glucocorticoid deficiency. These signs and symptoms often begin in infancy or early childhood. Most affected children first develop low blood glucose (hypoglycemia). These hypoglycemic children can fail to grow and gain weight at the expected rate (failure to thrive). If left untreated, hypoglycemia can lead to seizures, learning difficulties, and other neurological problems. Hypoglycemia that is left untreated for prolonged periods can lead to neurological damage and death. Other features of familial glucocorticoid deficiency can include recurrent infections and skin coloring darker than that of other family members (hyperpigmentation).<br /><br />Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. These hormones, which include cortisol and corticosterone, aid in immune system function, play a role in maintaining normal blood sugar (glucose) levels, help trigger nerve cell signaling in the brain, and serve many other purposes in the body. <a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-glucocorticoid-deficiency">https://medlineplus.gov/genetics/condition/familial-glucocorticoid-deficiency</a></div></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<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_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</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.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375868"><div><strong>Renal salt wasting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375868</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.">C1846347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375868">Feature record</a> | <a href="/medgen?term=%22Renal%20salt%20wasting%22%5BClinical%20Features%5D%20OR%20375868%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5710"><div><strong>Hypoglycemic coma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5710</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.">C0020617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coma induced by low blood sugar.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5710">Feature record</a> | <a href="/medgen?term=%22Hypoglycemic%20coma%22%5BClinical%20Features%5D%20OR%205710%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5691"><div><strong>Hyperkalemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5691</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.">C0020461</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased potassium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5691">Feature record</a> | <a href="/medgen?term=%22Hyperkalemia%22%5BClinical%20Features%5D%20OR%205691%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6979"><div><strong>Hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6979</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.">C0020615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased concentration of glucose in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6979">Feature record</a> | <a href="/medgen?term=%22Hypoglycemia%22%5BClinical%20Features%5D%20OR%206979%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6984"><div><strong>Hyponatremia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6984</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.">C0020625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased sodium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6984">Feature record</a> | <a href="/medgen?term=%22Hyponatremia%22%5BClinical%20Features%5D%20OR%206984%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41344"><div><strong>Congenital hypothyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41344</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.">C0010308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41344">Feature record</a> | <a href="/medgen?term=%22Congenital%20hypothyroidism%22%5BClinical%20Features%5D%20OR%2041344%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18752"><div><strong>Precocious puberty</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18752</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.">C0034013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18752">Feature record</a> | <a href="/medgen?term=%22Precocious%20puberty%22%5BClinical%20Features%5D%20OR%2018752%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_808216"><div><strong>Abnormal circulating aldosterone concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>808216</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.">C0857898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/808216">Feature record</a> | <a href="/medgen?term=%22Abnormal%20circulating%20aldosterone%20concentration%22%5BClinical%20Features%5D%20OR%20808216%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_866691"><div><strong>Abnormal circulating renin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866691</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.">C4021038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866691">Feature record</a> | <a href="/medgen?term=%22Abnormal%20circulating%20renin%20concentration%22%5BClinical%20Features%5D%20OR%20866691%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867375"><div><strong>Increased circulating ACTH level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867375</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.">C4021740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867375">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20ACTH%20level%22%5BClinical%20Features%5D%20OR%20867375%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_5691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperkalemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6984" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyponatremia</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_808216" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal circulating aldosterone concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal circulating renin concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital hypothyroidism</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating ACTH level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Precocious puberty</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_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal salt wasting</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5710" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemic coma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</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></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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3553587[DISCUI]&test_type=Clinical" ref="ncbi_uid=766501">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766501" target="_blank" href="/omim/607878">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=766501" ref="ncbi_uid=766501">V</a></span></span><span class="TLline">Glucocorticoid deficiency 4</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/19974" ref="tree=MeSH" title="MedGen record for Clinical finding">Clinical finding</a></span><ul><li><span class="TLline"><a href="/medgen/272632" ref="tree=MeSH" title="MedGen record for Finding by Site or System">Finding by Site or System</a></span><ul><li><span class="TLline"><a href="/medgen/107539" ref="tree=MeSH" title="MedGen record for Endocrine finding">Endocrine finding</a></span><ul><li><span class="TLline"><a href="/medgen/471966" ref="tree=MeSH" title="MedGen record for Hormone abnormality">Hormone abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/885955" ref="tree=MeSH" title="MedGen record for Familial glucocorticoid deficiency">Familial glucocorticoid deficiency</a></span><ul><li><span class="matched_ds">Glucocorticoid deficiency 4</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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/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 class="nl"><a target="_blank" href="/pubmed/12324718">Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clayton PE,
|
||
Miller WL,
|
||
Oberfield SE,
|
||
Ritzén EM,
|
||
Sippell WG,
|
||
Speiser PW;
|
||
ESPE/ LWPES CAH Working Group</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
2002;58(4):188-95.
|
||
doi: 10.1159/000065490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12324718" target="_blank">12324718</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(glucocorticoid%20deficiency%204)%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 (106)</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/38530258">Common Oral Conditions: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stoopler ET,
|
||
Villa A,
|
||
Bindakhil M,
|
||
Díaz DLO,
|
||
Sollecito TP</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2024 Mar 26;331(12):1045-1054.
|
||
doi: 10.1001/jama.2024.0953.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38530258" target="_blank">38530258</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/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/26951206">Obesity and Metabolic Syndrome Among Adult Survivors of Childhood Leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gibson TM,
|
||
Ehrhardt MJ,
|
||
Ness KK</span><br />
|
||
<span class="medgenPMjournal">Curr Treat Options Oncol</span>
|
||
2016 Apr;17(4):17.
|
||
doi: 10.1007/s11864-016-0393-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26951206" target="_blank">26951206</a><a href="/pmc/articles/PMC4813812" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18793988">Subcutaneous sweet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guhl G,
|
||
García-Díez A</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2008 Oct;26(4):541-51, viii-ix.
|
||
doi: 10.1016/j.det.2008.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18793988" target="_blank">18793988</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucocorticoid%20deficiency%204%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 (511)</a></div><h3 class="subhead">Diagnosis</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/35762356">Identification of Pathogenic Immune Cell Subsets Associated With Checkpoint Inhibitor-Induced Myocarditis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu H,
|
||
Galdos FX,
|
||
Lee D,
|
||
Waliany S,
|
||
Huang YV,
|
||
Ryan J,
|
||
Dang K,
|
||
Neal JW,
|
||
Wakelee HA,
|
||
Reddy SA,
|
||
Srinivas S,
|
||
Lin LL,
|
||
Witteles RM,
|
||
Maecker HT,
|
||
Davis MM,
|
||
Nguyen PK,
|
||
Wu SM</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2022 Jul 26;146(4):316-335.
|
||
Epub 2022 Jun 28
|
||
doi: 10.1161/CIRCULATIONAHA.121.056730.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35762356" target="_blank">35762356</a><a href="/pmc/articles/PMC9397491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31655771">Low-Renin Hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Athimulam S,
|
||
Lazik N,
|
||
Bancos I</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2019 Dec;48(4):701-715.
|
||
Epub 2019 Sep 25
|
||
doi: 10.1016/j.ecl.2019.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31655771" target="_blank">31655771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30830960">Measles pneumonitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schoini P,
|
||
Karampitsakos T,
|
||
Avdikou M,
|
||
Athanasopoulou A,
|
||
Tsoukalas G,
|
||
Tzouvelekis A</span><br />
|
||
<span class="medgenPMjournal">Adv Respir Med</span>
|
||
2019;87(1):63-67.
|
||
Epub 2019 Mar 4
|
||
doi: 10.5603/ARM.a2019.0010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30830960" target="_blank">30830960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18793988">Subcutaneous sweet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guhl G,
|
||
García-Díez A</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2008 Oct;26(4):541-51, viii-ix.
|
||
doi: 10.1016/j.det.2008.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18793988" target="_blank">18793988</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucocorticoid%20deficiency%204%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 (483)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38530258">Common Oral Conditions: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stoopler ET,
|
||
Villa A,
|
||
Bindakhil M,
|
||
Díaz DLO,
|
||
Sollecito TP</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2024 Mar 26;331(12):1045-1054.
|
||
doi: 10.1001/jama.2024.0953.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38530258" target="_blank">38530258</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/31655771">Low-Renin Hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Athimulam S,
|
||
Lazik N,
|
||
Bancos I</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2019 Dec;48(4):701-715.
|
||
Epub 2019 Sep 25
|
||
doi: 10.1016/j.ecl.2019.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31655771" target="_blank">31655771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29169608">Group 4: Replacement therapy for adrenal insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castinetti F,
|
||
Guignat L,
|
||
Bouvattier C,
|
||
Samara-Boustani D,
|
||
Reznik Y</span><br />
|
||
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2017 Dec;78(6):525-534.
|
||
Epub 2017 Nov 21
|
||
doi: 10.1016/j.ando.2017.10.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29169608" target="_blank">29169608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18793988">Subcutaneous sweet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guhl G,
|
||
García-Díez A</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2008 Oct;26(4):541-51, viii-ix.
|
||
doi: 10.1016/j.det.2008.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18793988" target="_blank">18793988</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucocorticoid%20deficiency%204%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 (723)</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,
|
||
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/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/26951206">Obesity and Metabolic Syndrome Among Adult Survivors of Childhood Leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gibson TM,
|
||
Ehrhardt MJ,
|
||
Ness KK</span><br />
|
||
<span class="medgenPMjournal">Curr Treat Options Oncol</span>
|
||
2016 Apr;17(4):17.
|
||
doi: 10.1007/s11864-016-0393-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26951206" target="_blank">26951206</a><a href="/pmc/articles/PMC4813812" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19730969">A review of drug-induced hypocalcemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liamis G,
|
||
Milionis HJ,
|
||
Elisaf M</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Metab</span>
|
||
2009;27(6):635-42.
|
||
doi: 10.1007/s00774-009-0119-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19730969" target="_blank">19730969</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucocorticoid%20deficiency%204%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 (235)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38828945">Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarafoglou K,
|
||
Kim MS,
|
||
Lodish M,
|
||
Felner EI,
|
||
Martinerie L,
|
||
Nokoff NJ,
|
||
Clemente M,
|
||
Fechner PY,
|
||
Vogiatzi MG,
|
||
Speiser PW,
|
||
Auchus RJ,
|
||
Rosales GBG,
|
||
Roberts E,
|
||
Jeha GS,
|
||
Farber RH,
|
||
Chan JL;
|
||
CAHtalyst Pediatric Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Aug 8;391(6):493-503.
|
||
Epub 2024 Jun 2
|
||
doi: 10.1056/NEJMoa2404655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38828945" target="_blank">38828945</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38530258">Common Oral Conditions: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stoopler ET,
|
||
Villa A,
|
||
Bindakhil M,
|
||
Díaz DLO,
|
||
Sollecito TP</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2024 Mar 26;331(12):1045-1054.
|
||
doi: 10.1001/jama.2024.0953.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38530258" target="_blank">38530258</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/12920153">Endocrine withdrawal syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hochberg Z,
|
||
Pacak K,
|
||
Chrousos GP</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2003 Aug;24(4):523-38.
|
||
doi: 10.1210/er.2001-0014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12920153" target="_blank">12920153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12206808">Pre-clinical trials in Duchenne dystrophy: what animal models can tell us about potential drug effectiveness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Luca A,
|
||
Pierno S,
|
||
Liantonio A,
|
||
Conte Camerino D</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2002 Oct;12 Suppl 1:S142-6.
|
||
doi: 10.1016/s0960-8966(02)00100-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12206808" target="_blank">12206808</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucocorticoid%20deficiency%204%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 (376)</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/39404935">Hypophysitis in COVID-19: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menotti S,
|
||
di Filippo L,
|
||
Terenzi U,
|
||
Chiloiro S,
|
||
De Marinis L</span><br />
|
||
<span class="medgenPMjournal">Pituitary</span>
|
||
2024 Dec;27(6):874-888.
|
||
Epub 2024 Oct 15
|
||
doi: 10.1007/s11102-024-01462-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39404935" target="_blank">39404935</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/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/29405037">Osmotic therapies added to antibiotics for acute bacterial meningitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wall EC,
|
||
Ajdukiewicz KM,
|
||
Bergman H,
|
||
Heyderman RS,
|
||
Garner P</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2018 Feb 6;2(2):CD008806.
|
||
doi: 10.1002/14651858.CD008806.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29405037" target="_blank">29405037</a><a href="/pmc/articles/PMC5815491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28582566">Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carmina E,
|
||
Dewailly D,
|
||
Escobar-Morreale HF,
|
||
Kelestimur F,
|
||
Moran C,
|
||
Oberfield S,
|
||
Witchel SF,
|
||
Azziz R</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod Update</span>
|
||
2017 Sep 1;23(5):580-599.
|
||
doi: 10.1093/humupd/dmx014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28582566" target="_blank">28582566</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucocorticoid%20deficiency%204%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 (10)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<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 -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3553587%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C3553587%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C3553587%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3553587%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<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=614736" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Glucocorticoid%20deficiency%204" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(glucocorticoid%20deficiency%204)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Glucocorticoid%20deficiency%204%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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>
|
||
<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=607878" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=23530[geneid]" target="_blank">View NNT variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=614736" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<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/glucocorticoid_deficiency_4_with_or_without_mineralocorticoid_deficiency_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Glucocorticoid%20deficiency%204" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/familial-glucocorticoid-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15840/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>
|
||
<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>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Glucocorticoid%20deficiency%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Glucocorticoid%20deficiency%204%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>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=766501" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=766501" ref="log$=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=C3553587[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3553587[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=766501" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=766501" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=766501" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=766501" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=766501" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc3a3b84f3725e598c2b23">Glucocorticoid deficiency 4</a>
|
||
<div class="ralinkpop offscreen_noflow">Glucocorticoid deficiency 4<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc3a39f4a390645e9049b5">C3553587[conceptid] <span class="number">(1)</span></a>
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