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<meta name="keywords" content="C4014803, acth-independent macronodular adrenal hyperplasia 2, acth-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation, acth-independent macronodular adrenal hyperplasia type 2, aimah2, armc5, armc5 cushing syndrome due to macronodular adrenal hyperplasia, cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in armc5, disease or syndrome, primary macronodular adrenal hyperplasia, 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="ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=863240
ConceptID=C4014803
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">ACTH-independent macronodular adrenal hyperplasia 2<span class="h1sub">(AIMAH2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863240</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)&#10;Click for more information."><span class="highlight" style="background-color:">C4014803</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>PRIMARY MACRONODULAR ADRENAL HYPERPLASIA</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="ARMC5 - ID: 79798 - NCBI Gene" href="/gene/79798" class="medgenPMinfo">ARMC5</a> (16p11.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0014416" target="_blank">MONDO:0014416</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/615954" target="_blank">615954</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013). [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_117">
<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 />Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an important hormone that suppresses inflammation and protects the body from physical stress such as infection or trauma through several mechanisms including raising levels of blood glucose, also called blood sugar.<br /><br />PMAH typically becomes evident in a person's forties or fifties. It is considered a form of Cushing syndrome, which is characterized by increased levels of cortisol resulting from one of many possible causes. These increased cortisol levels lead to weight gain in the face and upper body, fragile skin, bone loss, fatigue, and other health problems. However, some people with PMAH do not experience these signs and symptoms and are said to have subclinical Cushing syndrome.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia">https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia</a></div></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_41971"><div><strong>Fatigue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41971</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)&#10;Click for more information.">C0015672</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A subjective feeling of tiredness characterized by a lack of energy and motivation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41971">Feature record</a> | <a href="/medgen?term=%22Fatigue%22%5BClinical%20Features%5D%20OR%2041971%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0020538</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_12145"><div><strong>Increased body weight</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12145</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)&#10;Click for more information.">C0043094</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally increased body weight.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/12145">Feature record</a> | <a href="/medgen?term=%22Increased%20body%20weight%22%5BClinical%20Features%5D%20OR%2012145%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_90229"><div><strong>Abdominal obesity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90229</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)&#10;Click for more information.">C0311277</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Excessive fat around the stomach and abdomen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/90229">Feature record</a> | <a href="/medgen?term=%22Abdominal%20obesity%22%5BClinical%20Features%5D%20OR%2090229%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</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)&#10;Click for more information.">C0011581</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_14535"><div><strong>Osteoporosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14535</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)&#10;Click for more information.">C0029456</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/14535">Feature record</a> | <a href="/medgen?term=%22Osteoporosis%22%5BClinical%20Features%5D%20OR%2014535%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5689"><div><strong>Hyperglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5689</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)&#10;Click for more information.">C0020456</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An increased concentration of glucose in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5689">Feature record</a> | <a href="/medgen?term=%22Hyperglycemia%22%5BClinical%20Features%5D%20OR%205689%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_116087"><div><strong>Round face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116087</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)&#10;Click for more information.">C0239479</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The facial appearance is more circular than usual as viewed from the front.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116087">Feature record</a> | <a href="/medgen?term=%22Round%20face%22%5BClinical%20Features%5D%20OR%20116087%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_137971"><div><strong>Macronodular adrenal hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137971</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)&#10;Click for more information.">C0342495</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/137971">Feature record</a> | <a href="/medgen?term=%22Macronodular%20adrenal%20hyperplasia%22%5BClinical%20Features%5D%20OR%20137971%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_868666"><div><strong>Increased urinary cortisol level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868666</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)&#10;Click for more information.">C4023068</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally increased concentration of cortisol in the urine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/868666">Feature record</a> | <a href="/medgen?term=%22Increased%20urinary%20cortisol%20level%22%5BClinical%20Features%5D%20OR%20868666%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_871175"><div><strong>Increased circulating cortisol level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871175</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)&#10;Click for more information.">C4025651</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/871175">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20cortisol%20level%22%5BClinical%20Features%5D%20OR%20871175%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1841520"><div><strong>Decreased circulating ACTH concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841520</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)&#10;Click for more information.">C5826343</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841520">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20ACTH%20concentration%22%5BClinical%20Features%5D%20OR%201841520%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Round face</a></span></li></ul></li><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_5689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperglycemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1841520" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating ACTH concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871175" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating cortisol level</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased urinary cortisol level</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_137971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macronodular adrenal hyperplasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoporosis</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_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fatigue</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_90229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal obesity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased body weight</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0010481[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=3681">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=3681" ref="ncbi_uid=3681">V</a></span></span><span class="TLline"><a href="/medgen/3681" ref="tree=GTR&amp;ncbi_uid=3681&amp;link_uid=3681" title="View MedGen record for 'Cushing syndrome'">Cushing syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/575036" ref="tree=GTR&amp;ncbi_uid=575036&amp;link_uid=575036" title="View MedGen record for 'ACTH-dependent Cushing syndrome'">ACTH-dependent Cushing syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/797686" ref="tree=GTR&amp;ncbi_uid=797686&amp;link_uid=797686" title="View MedGen record for 'Ectopic Cushing syndrome'">Ectopic Cushing syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0221406[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=66381">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=66381" target="_blank" href="/omim/219090">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&amp;from_uid=66381" ref="ncbi_uid=66381">V</a></span></span><span class="TLline"><a href="/medgen/66381" ref="tree=GTR&amp;ncbi_uid=66381&amp;link_uid=66381" title="View MedGen record for 'Pituitary dependent hypercortisolism'">Pituitary dependent hypercortisolism</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/575037" ref="tree=GTR&amp;ncbi_uid=575037&amp;link_uid=575037" title="View MedGen record for 'ACTH-independent Cushing syndrome'">ACTH-independent Cushing syndrome</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/923388" ref="tree=GTR&amp;ncbi_uid=923388&amp;link_uid=923388" title="View MedGen record for 'Cushing syndrome due to macronodular adrenal hyperplasia'">Cushing syndrome due to macronodular adrenal hyperplasia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857451[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=347456">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347456" target="_blank" href="/omim/219080">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&amp;from_uid=347456" ref="ncbi_uid=347456">V</a></span></span><span class="TLline"><a href="/medgen/347456" ref="tree=GTR&amp;ncbi_uid=347456&amp;link_uid=347456" title="View MedGen record for 'ACTH-independent macronodular adrenal hyperplasia 1'">ACTH-independent macronodular adrenal hyperplasia 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014803[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=863240">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863240" target="_blank" href="/omim/615549">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&amp;from_uid=863240" ref="ncbi_uid=863240">V</a></span></span><span class="TLline">ACTH-independent macronodular adrenal hyperplasia 2</span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4304832[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=930501">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/930501" ref="tree=GTR&amp;ncbi_uid=930501&amp;link_uid=930501" title="View MedGen record for 'Primary pigmented nodular adrenocortical disease'">Primary pigmented nodular adrenocortical disease</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/4043" ref="tree=MeSH" title="MedGen record for Disorder of endocrine system">Disorder of endocrine system</a></span><ul><li><span class="TLline"><a href="/medgen/272569" ref="tree=MeSH" title="MedGen record for Endocrine Syndrome">Endocrine Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/3681" ref="tree=MeSH" title="MedGen record for Cushing syndrome">Cushing syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/575037" ref="tree=MeSH" title="MedGen record for ACTH-independent Cushing syndrome">ACTH-independent Cushing syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/923388" ref="tree=MeSH" title="MedGen record for Cushing syndrome due to macronodular adrenal hyperplasia">Cushing syndrome due to macronodular adrenal hyperplasia</a></span><ul><li><span class="matched_ds">ACTH-independent macronodular adrenal hyperplasia 2</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/37354283">Role of adrenal venous sampling in the differential diagnosis and treatment protocol of ACTH-independent Cushing's syndrome with bilateral adrenal lesions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">An X,
Chen T,
Mo D,
Shen S,
Zhang D,
Zhang T,
Tian H,
Li Y,
Li J,
Li L,
Wu N,
Zhu Y,
Ren Y</span><br />
<span class="medgenPMjournal">Endocrine</span>
2023 Sep;81(3):562-572.
Epub 2023 Jun 24
doi: 10.1007/s12020-023-03395-7.
<span class="bold">PMID: </span><a href="/pubmed/37354283" target="_blank">37354283</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31634962">Unilateral Adrenalectomy for Primary Bilateral Macronodular Adrenal Hyperplasia: Analysis of 71 Cases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sheikh-Ahmad M,
Dickstein G,
Matter I,
Shechner C,
Bejar J,
Reut M,
Sroka G,
Laniado M,
Saiegh L</span><br />
<span class="medgenPMjournal">Exp Clin Endocrinol Diabetes</span>
2020 Dec;128(12):827-834.
Epub 2019 Oct 21
doi: 10.1055/a-0998-7884.
<span class="bold">PMID: </span><a href="/pubmed/31634962" target="_blank">31634962</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15783246">Pharmacologic management of Cushing syndrome : new targets for therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sonino N,
Boscaro M,
Fallo F</span><br />
<span class="medgenPMjournal">Treat Endocrinol</span>
2005;4(2):87-94.
doi: 10.2165/00024677-200504020-00003.
<span class="bold">PMID: </span><a href="/pubmed/15783246" target="_blank">15783246</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(acth-independent%20macronodular%20adrenal%20hyperplasia%202)%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 (5)</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/37354283">Role of adrenal venous sampling in the differential diagnosis and treatment protocol of ACTH-independent Cushing's syndrome with bilateral adrenal lesions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">An X,
Chen T,
Mo D,
Shen S,
Zhang D,
Zhang T,
Tian H,
Li Y,
Li J,
Li L,
Wu N,
Zhu Y,
Ren Y</span><br />
<span class="medgenPMjournal">Endocrine</span>
2023 Sep;81(3):562-572.
Epub 2023 Jun 24
doi: 10.1007/s12020-023-03395-7.
<span class="bold">PMID: </span><a href="/pubmed/37354283" target="_blank">37354283</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35130566">Clinical Spectrum of Adrenal Cushing's Syndrome and the Caution for Interpretation of Adrenocorticotrophic Hormone: A Single-Center Experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gosavi V,
Lila A,
Memon SS,
Sarathi V,
Thakkar K,
Dalvi A,
Malhotra G,
Prakash G,
Patil V,
Shah NS,
Bandgar T</span><br />
<span class="medgenPMjournal">Horm Metab Res</span>
2022 Feb;54(2):57-66.
Epub 2022 Feb 7
doi: 10.1055/a-1735-3232.
<span class="bold">PMID: </span><a href="/pubmed/35130566" target="_blank">35130566</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30232569">Outcomes of Adrenal Venous Sampling in Patients with Bilateral Adrenal Masses and ACTH-Independent Cushing's Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Acharya R,
Dhir M,
Bandi R,
Yip L,
Challinor S</span><br />
<span class="medgenPMjournal">World J Surg</span>
2019 Feb;43(2):527-533.
doi: 10.1007/s00268-018-4788-2.
<span class="bold">PMID: </span><a href="/pubmed/30232569" target="_blank">30232569</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15026592">CT and MR imaging of the adrenal glands in ACTH-independent cushing syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rockall AG,
Babar SA,
Sohaib SA,
Isidori AM,
Diaz-Cano S,
Monson JP,
Grossman AB,
Reznek RH</span><br />
<span class="medgenPMjournal">Radiographics</span>
2004 Mar-Apr;24(2):435-52.
doi: 10.1148/rg.242035092.
<span class="bold">PMID: </span><a href="/pubmed/15026592" target="_blank">15026592</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14767469">Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bourdeau I,
Antonini SR,
Lacroix A,
Kirschner LS,
Matyakhina L,
Lorang D,
Libutti SK,
Stratakis CA</span><br />
<span class="medgenPMjournal">Oncogene</span>
2004 Feb 26;23(8):1575-85.
doi: 10.1038/sj.onc.1207277.
<span class="bold">PMID: </span><a href="/pubmed/14767469" target="_blank">14767469</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22ACTH-independent%20macronodular%20adrenal%20hyperplasia%202%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39465833">Primary bilateral macronodular adrenal hyperplasia: A rare case report of Cushing syndrome and review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ghanbari Boroujeni MR,
Meftah E,
Zarimeidani F,
Rahmati R,
Esfahanian F</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2024 Oct 11;103(41):e40050.
doi: 10.1097/MD.0000000000040050.
<span class="bold">PMID: </span><a href="/pubmed/39465833" target="_blank">39465833</a><a href="/pmc/articles/PMC11479408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37354283">Role of adrenal venous sampling in the differential diagnosis and treatment protocol of ACTH-independent Cushing's syndrome with bilateral adrenal lesions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">An X,
Chen T,
Mo D,
Shen S,
Zhang D,
Zhang T,
Tian H,
Li Y,
Li J,
Li L,
Wu N,
Zhu Y,
Ren Y</span><br />
<span class="medgenPMjournal">Endocrine</span>
2023 Sep;81(3):562-572.
Epub 2023 Jun 24
doi: 10.1007/s12020-023-03395-7.
<span class="bold">PMID: </span><a href="/pubmed/37354283" target="_blank">37354283</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24739311">Primary bilateral macronodular adrenal hyperplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Venanzi A,
Alencar GA,
Bourdeau I,
Fragoso MC,
Lacroix A</span><br />
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
2014 Jun;21(3):177-84.
doi: 10.1097/MED.0000000000000061.
<span class="bold">PMID: </span><a href="/pubmed/24739311" target="_blank">24739311</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20460422">Aberrant expression of multiple hormone receptors in ACTH-independent macronodular adrenal hyperplasia causing Cushing's syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">de Groot JW,
Links TP,
Themmen AP,
Looijenga LH,
de Krijger RR,
van Koetsveld PM,
Hofland J,
van den Berg G,
Hofland LJ,
Feelders RA</span><br />
<span class="medgenPMjournal">Eur J Endocrinol</span>
2010 Aug;163(2):293-9.
Epub 2010 May 11
doi: 10.1530/EJE-10-0058.
<span class="bold">PMID: </span><a href="/pubmed/20460422" target="_blank">20460422</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15026592">CT and MR imaging of the adrenal glands in ACTH-independent cushing syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rockall AG,
Babar SA,
Sohaib SA,
Isidori AM,
Diaz-Cano S,
Monson JP,
Grossman AB,
Reznek RH</span><br />
<span class="medgenPMjournal">Radiographics</span>
2004 Mar-Apr;24(2):435-52.
doi: 10.1148/rg.242035092.
<span class="bold">PMID: </span><a href="/pubmed/15026592" target="_blank">15026592</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22ACTH-independent%20macronodular%20adrenal%20hyperplasia%202%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 (29)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/24708098">ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alencar GA,
Lerario AM,
Nishi MY,
Mariani BM,
Almeida MQ,
Tremblay J,
Hamet P,
Bourdeau I,
Zerbini MC,
Pereira MA,
Gomes GC,
Rocha Mde S,
Chambo JL,
Lacroix A,
Mendonca BB,
Fragoso MC</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2014 Aug;99(8):E1501-9.
Epub 2014 Apr 7
doi: 10.1210/jc.2013-4237.
<span class="bold">PMID: </span><a href="/pubmed/24708098" target="_blank">24708098</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22691887">Molecular genetics of adrenocortical tumor formation and potential pharmacologic targets.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rauschecker M,
Stratakis CA</span><br />
<span class="medgenPMjournal">Minerva Endocrinol</span>
2012 Jun;37(2):133-9.
<span class="bold">PMID: </span><a href="/pubmed/22691887" target="_blank">22691887</a><a href="/pmc/articles/PMC4178949" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20660048">Systematic analysis of G protein-coupled receptor gene expression in adrenocorticotropin-independent macronodular adrenocortical hyperplasia identifies novel targets for pharmacological control of adrenal Cushing's syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Assie G,
Louiset E,
Sturm N,
René-Corail F,
Groussin L,
Bertherat J,
Thomas M,
Lefebvre H,
Feige JJ,
Clauser E,
Chabre O,
Cherradi N</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2010 Oct;95(10):E253-62.
Epub 2010 Jul 21
doi: 10.1210/jc.2009-2281.
<span class="bold">PMID: </span><a href="/pubmed/20660048" target="_blank">20660048</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17502981">ACTH-independent macronodular adrenal hyperplasia: imaging findings of a rare condition : A case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Verma A,
Mohan S,
Gupta A</span><br />
<span class="medgenPMjournal">Abdom Imaging</span>
2008 Mar-Apr;33(2):225-9.
doi: 10.1007/s00261-007-9236-y.
<span class="bold">PMID: </span><a href="/pubmed/17502981" target="_blank">17502981</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15783246">Pharmacologic management of Cushing syndrome : new targets for therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sonino N,
Boscaro M,
Fallo F</span><br />
<span class="medgenPMjournal">Treat Endocrinol</span>
2005;4(2):87-94.
doi: 10.2165/00024677-200504020-00003.
<span class="bold">PMID: </span><a href="/pubmed/15783246" target="_blank">15783246</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22ACTH-independent%20macronodular%20adrenal%20hyperplasia%202%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37354283">Role of adrenal venous sampling in the differential diagnosis and treatment protocol of ACTH-independent Cushing's syndrome with bilateral adrenal lesions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">An X,
Chen T,
Mo D,
Shen S,
Zhang D,
Zhang T,
Tian H,
Li Y,
Li J,
Li L,
Wu N,
Zhu Y,
Ren Y</span><br />
<span class="medgenPMjournal">Endocrine</span>
2023 Sep;81(3):562-572.
Epub 2023 Jun 24
doi: 10.1007/s12020-023-03395-7.
<span class="bold">PMID: </span><a href="/pubmed/37354283" target="_blank">37354283</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24708098">ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alencar GA,
Lerario AM,
Nishi MY,
Mariani BM,
Almeida MQ,
Tremblay J,
Hamet P,
Bourdeau I,
Zerbini MC,
Pereira MA,
Gomes GC,
Rocha Mde S,
Chambo JL,
Lacroix A,
Mendonca BB,
Fragoso MC</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2014 Aug;99(8):E1501-9.
Epub 2014 Apr 7
doi: 10.1210/jc.2013-4237.
<span class="bold">PMID: </span><a href="/pubmed/24708098" target="_blank">24708098</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24283224">ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Assié G,
Libé R,
Espiard S,
Rizk-Rabin M,
Guimier A,
Luscap W,
Barreau O,
Lefèvre L,
Sibony M,
Guignat L,
Rodriguez S,
Perlemoine K,
René-Corail F,
Letourneur F,
Trabulsi B,
Poussier A,
Chabbert-Buffet N,
Borson-Chazot F,
Groussin L,
Bertagna X,
Stratakis CA,
Ragazzon B,
Bertherat J</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2013 Nov 28;369(22):2105-14.
doi: 10.1056/NEJMoa1304603.
<span class="bold">PMID: </span><a href="/pubmed/24283224" target="_blank">24283224</a><a href="/pmc/articles/PMC4727443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18214589">The role of unilateral adrenalectomy in ACTH-independent macronodular adrenal hyperplasia (AIMAH).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Iacobone M,
Albiger N,
Scaroni C,
Mantero F,
Fassina A,
Viel G,
Frego M,
Favia G</span><br />
<span class="medgenPMjournal">World J Surg</span>
2008 May;32(5):882-9.
doi: 10.1007/s00268-007-9408-5.
<span class="bold">PMID: </span><a href="/pubmed/18214589" target="_blank">18214589</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11834434">Is unilateral adrenalectomy an alternative treatment for ACTH-independent macronodular adrenal hyperplasia?: Long-term follow-up of four cases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lamas C,
Alfaro JJ,
Lucas T,
Lecumberri B,
Barceló B,
Estrada J</span><br />
<span class="medgenPMjournal">Eur J Endocrinol</span>
2002 Feb;146(2):237-40.
doi: 10.1530/eje.0.1460237.
<span class="bold">PMID: </span><a href="/pubmed/11834434" target="_blank">11834434</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22ACTH-independent%20macronodular%20adrenal%20hyperplasia%202%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39465833">Primary bilateral macronodular adrenal hyperplasia: A rare case report of Cushing syndrome and review of literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ghanbari Boroujeni MR,
Meftah E,
Zarimeidani F,
Rahmati R,
Esfahanian F</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2024 Oct 11;103(41):e40050.
doi: 10.1097/MD.0000000000040050.
<span class="bold">PMID: </span><a href="/pubmed/39465833" target="_blank">39465833</a><a href="/pmc/articles/PMC11479408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37354283">Role of adrenal venous sampling in the differential diagnosis and treatment protocol of ACTH-independent Cushing's syndrome with bilateral adrenal lesions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">An X,
Chen T,
Mo D,
Shen S,
Zhang D,
Zhang T,
Tian H,
Li Y,
Li J,
Li L,
Wu N,
Zhu Y,
Ren Y</span><br />
<span class="medgenPMjournal">Endocrine</span>
2023 Sep;81(3):562-572.
Epub 2023 Jun 24
doi: 10.1007/s12020-023-03395-7.
<span class="bold">PMID: </span><a href="/pubmed/37354283" target="_blank">37354283</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35130566">Clinical Spectrum of Adrenal Cushing's Syndrome and the Caution for Interpretation of Adrenocorticotrophic Hormone: A Single-Center Experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gosavi V,
Lila A,
Memon SS,
Sarathi V,
Thakkar K,
Dalvi A,
Malhotra G,
Prakash G,
Patil V,
Shah NS,
Bandgar T</span><br />
<span class="medgenPMjournal">Horm Metab Res</span>
2022 Feb;54(2):57-66.
Epub 2022 Feb 7
doi: 10.1055/a-1735-3232.
<span class="bold">PMID: </span><a href="/pubmed/35130566" target="_blank">35130566</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24283225">Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Louiset E,
Duparc C,
Young J,
Renouf S,
Tetsi Nomigni M,
Boutelet I,
Libé R,
Bram Z,
Groussin L,
Caron P,
Tabarin A,
Grunenberger F,
Christin-Maitre S,
Bertagna X,
Kuhn JM,
Anouar Y,
Bertherat J,
Lefebvre H</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2013 Nov 28;369(22):2115-25.
doi: 10.1056/NEJMoa1215245.
<span class="bold">PMID: </span><a href="/pubmed/24283225" target="_blank">24283225</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21415556">A case of ACTH-independent macronodular adrenal hyperplasia associated with multiple endocrine neoplasia type 1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshida M,
Hiroi M,
Imai T,
Kikumori T,
Himeno T,
Nakamura Y,
Sasano H,
Yamada M,
Murakami Y,
Nakamura S,
Oiso Y</span><br />
<span class="medgenPMjournal">Endocr J</span>
2011;58(4):269-77.
Epub 2011 Mar 10
doi: 10.1507/endocrj.k10e-218.
<span class="bold">PMID: </span><a href="/pubmed/21415556" target="_blank">21415556</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22ACTH-independent%20macronodular%20adrenal%20hyperplasia%202%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 (13)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4014803%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
<li><a href="/gtr/tests?term=C4014803%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
<li><a href="/gtr/tests?term=C4014803%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4014803%5bDISCUI%5d" target="_blank">See all (13)</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=(acth-independent%20macronodular%20adrenal%20hyperplasia%202)%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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<p class="address_footer text-white">National Library of Medicine<br />
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<div class="row">
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<nav class="bottom-links">
<ul class="mt-3">
<li>
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
</li>
<li>
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
</li>
<li>
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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</nav>
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