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<meta name="keywords" content="C1857451, acth-independent cushing syndrome, acth-independent macronodular adrenal hyperplasia, acth-independent macronodular adrenal hyperplasia 1, acth-independent macronodular adrenal hyperplasia, somatic, acth-independent macronodular adrenal hyperplasia, somatic mutation, acth-independent macronodular adrenocortical hyperplasia, adrenocorticotropic hormone-independent macronodular adrenal hyperplasia, aimah, aimah1, corticotropin-independent macronodular adrenal hyperplasia, cushing syndrome, adrenal, due to aimah, disease or syndrome, gnas, 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 (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth or sixth decade of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).&#13; Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD; see 610489), which is often a component of the Carney complex (160980) and associated with mutations in the PRKAR1A gene (188830). AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).&#13; See also ACTH-independent Cushing syndrome (615830) due to somatic mutation in the PRKACA gene (601639).&#13; Cushing 'disease' (219090) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH.&#13; Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal Hyperplasia&#13; AIMAH2 (615954) is caused by germline mutation on 1 allele of the ARMC5 gene (615549) coupled with a somatic mutation in the other allele. AIMAH3 (620990) is caused by germline mutation on 1 allele of the KDM1A gene (609132) coupled with a somatic mutation in the other allele." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>ACTH-independent macronodular adrenal hyperplasia 1 (Concept Id: C1857451)
- MedGen - NCBI</title>
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<!--
UID=347456
ConceptID=C1857451
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">ACTH-independent macronodular adrenal hyperplasia 1<span class="h1sub">(AIMAH1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347456</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:">C1857451</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; ACTH-independent macronodular adrenal hyperplasia, somatic; ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA; ADRENOCORTICOTROPIC HORMONE-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1; CORTICOTROPIN-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; CUSHING SYNDROME, ADRENAL, DUE TO AIMAH</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="GNAS - ID: 2778 - NCBI Gene" href="/gene/2778" class="medgenPMinfo">GNAS</a> (20q13.32)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0020735" target="_blank">MONDO:0020735</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/219080" target="_blank">219080</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth or sixth decade of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).&#13; Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD; see 610489), which is often a component of the Carney complex (160980) and associated with mutations in the PRKAR1A gene (188830). AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).&#13; See also ACTH-independent Cushing syndrome (615830) due to somatic mutation in the PRKACA gene (601639).&#13; Cushing 'disease' (219090) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH.&#13; Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal Hyperplasia&#13; AIMAH2 (615954) is caused by germline mutation on 1 allele of the ARMC5 gene (615549) coupled with a somatic mutation in the other allele. AIMAH3 (620990) is caused by germline mutation on 1 allele of the KDM1A gene (609132) coupled with a somatic mutation in the other allele. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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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_10294"><div><strong>Neoplasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10294</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.">C0027651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10294">Feature record</a> | <a href="/medgen?term=%22Neoplasm%22%5BClinical%20Features%5D%20OR%2010294%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_1637490"><div><strong>Truncal obesity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637490</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.">C4551560</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Obesity located preferentially in the trunk of the body as opposed to the extremities.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1637490">Feature record</a> | <a href="/medgen?term=%22Truncal%20obesity%22%5BClinical%20Features%5D%20OR%201637490%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1613"><div><strong>Anxiety</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1613</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.">C0003467</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1613">Feature record</a> | <a href="/medgen?term=%22Anxiety%22%5BClinical%20Features%5D%20OR%201613%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_19568"><div><strong>Psychotic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19568</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.">C0033975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19568">Feature record</a> | <a href="/medgen?term=%22Psychotic%20disorder%22%5BClinical%20Features%5D%20OR%2019568%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_88447"><div><strong>Agitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88447</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.">C0085631</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/88447">Feature record</a> | <a href="/medgen?term=%22Agitation%22%5BClinical%20Features%5D%20OR%2088447%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39319"><div><strong>Emotional lability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39319</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.">C0085633</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39319">Feature record</a> | <a href="/medgen?term=%22Emotional%20lability%22%5BClinical%20Features%5D%20OR%2039319%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66713"><div><strong>Mental deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66713</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.">C0234985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Loss of previously present mental abilities, generally in adults.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66713">Feature record</a> | <a href="/medgen?term=%22Mental%20deterioration%22%5BClinical%20Features%5D%20OR%2066713%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_44042"><div><strong>Kyphosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44042</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.">C0022821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Exaggerated anterior convexity of the thoracic vertebral column.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44042">Feature record</a> | <a href="/medgen?term=%22Kyphosis%22%5BClinical%20Features%5D%20OR%2044042%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</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.">C0029453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%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_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</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.">C0541794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%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_57541"><div><strong>Striae distensae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57541</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.">C0152459</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Striae%20distensae%22%5BClinical%20Features%5D%20OR%2057541%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_140848"><div><strong>Thin skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140848</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.">C0423757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140848">Feature record</a> | <a href="/medgen?term=%22Thin%20skin%22%5BClinical%20Features%5D%20OR%20140848%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_140849"><div><strong>Bruising susceptibility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140849</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.">C0423798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140849">Feature record</a> | <a href="/medgen?term=%22Bruising%20susceptibility%22%5BClinical%20Features%5D%20OR%20140849%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_301220"><div><strong>Adrenal hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301220</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1621895</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Enlargement of the adrenal gland.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/301220">Feature record</a> | <a href="/medgen?term=%22Adrenal%20hyperplasia%22%5BClinical%20Features%5D%20OR%20301220%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_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_892570"><div><strong>Primary hypercortisolism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892570</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.">C4025760</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/892570">Feature record</a> | <a href="/medgen?term=%22Primary%20hypercortisolism%22%5BClinical%20Features%5D%20OR%20892570%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 the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_301220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenal hyperplasia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892570" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hypercortisolism</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruising susceptibility</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Striae distensae</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin skin</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_44042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</a></span></li><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_88447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agitation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anxiety</a></span></li><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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39319" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emotional lability</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mental deterioration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Psychotic disorder</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_1637490" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Truncal obesity</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10294" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neoplasm</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="matched_ds"><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">ACTH-independent macronodular adrenal hyperplasia 1</span></li><li class="TLclosed"><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"><a href="/medgen/863240" ref="tree=GTR&amp;ncbi_uid=863240&amp;link_uid=863240" title="View MedGen record for 'ACTH-independent macronodular adrenal hyperplasia 2'">ACTH-independent macronodular adrenal hyperplasia 2</a></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 1</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/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/32053747">Diagnosis and management of primary bilateral macronodular adrenal hyperplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vassiliadi DA,
Tsagarakis S</span><br />
<span class="medgenPMjournal">Endocr Relat Cancer</span>
2019 Oct 1;26(10):R567-R581.
doi: 10.1530/ERC-19-0240.
<span class="bold">PMID: </span><a href="/pubmed/32053747" target="_blank">32053747</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%201)%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 (3)</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/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/24601692">Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Faucz FR,
Zilbermint M,
Lodish MB,
Szarek E,
Trivellin G,
Sinaii N,
Berthon A,
Libé R,
Assié G,
Espiard S,
Drougat L,
Ragazzon B,
Bertherat J,
Stratakis CA</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2014 Jun;99(6):E1113-9.
Epub 2014 Mar 6
doi: 10.1210/jc.2013-4280.
<span class="bold">PMID: </span><a href="/pubmed/24601692" target="_blank">24601692</a><a href="/pmc/articles/PMC4037724" target="_blank" class="PubMedFree">Free PMC Article</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/9605918">Corticotropin-independent macronodular adrenal hyperplasia: a clinicopathologic correlation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Swain JM,
Grant CS,
Schlinkert RT,
Thompson GB,
vanHeerden JA,
Lloyd RV,
Young WF</span><br />
<span class="medgenPMjournal">Arch Surg</span>
1998 May;133(5):541-5; discussion 545-6.
doi: 10.1001/archsurg.133.5.541.
<span class="bold">PMID: </span><a href="/pubmed/9605918" target="_blank">9605918</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22ACTH-independent%20macronodular%20adrenal%20hyperplasia%201%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 (13)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36469068">68Ga-DOTATATE PET/CT of ACTH-Independent Cushing Syndrome Due to Ectopic Adrenocortical Adenoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang Y,
Liu Q,
Zhu Z</span><br />
<span class="medgenPMjournal">Clin Nucl Med</span>
2023 Jan 1;48(1):83-84.
Epub 2022 Sep 6
doi: 10.1097/RLU.0000000000004380.
<span class="bold">PMID: </span><a href="/pubmed/36469068" target="_blank">36469068</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32053747">Diagnosis and management of primary bilateral macronodular adrenal hyperplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vassiliadi DA,
Tsagarakis S</span><br />
<span class="medgenPMjournal">Endocr Relat Cancer</span>
2019 Oct 1;26(10):R567-R581.
doi: 10.1530/ERC-19-0240.
<span class="bold">PMID: </span><a href="/pubmed/32053747" target="_blank">32053747</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19018784">Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreds.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gagliardi L,
Hotu C,
Casey G,
Braund WJ,
Ling KH,
Dodd T,
Manavis J,
Devitt PG,
Cutfield R,
Rudzki Z,
Scott HS,
Torpy DJ</span><br />
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
2009 Jun;70(6):883-91.
Epub 2008 Nov 5
doi: 10.1111/j.1365-2265.2008.03471.x.
<span class="bold">PMID: </span><a href="/pubmed/19018784" target="_blank">19018784</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18209860">Cushing's syndrome secondary to ACTH-independent macronodular adrenal hyperplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Costa MH,
Lacroix A</span><br />
<span class="medgenPMjournal">Arq Bras Endocrinol Metabol</span>
2007 Nov;51(8):1226-37.
doi: 10.1590/s0004-27302007000800008.
<span class="bold">PMID: </span><a href="/pubmed/18209860" target="_blank">18209860</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%201%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 (28)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34986816">MicroRNA expression signature and target prediction in familial and sporadic primary macronodular adrenal hyperplasia (PMAH).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tan XG,
Zhu J,
Cui L</span><br />
<span class="medgenPMjournal">BMC Endocr Disord</span>
2022 Jan 5;22(1):11.
doi: 10.1186/s12902-021-00910-7.
<span class="bold">PMID: </span><a href="/pubmed/34986816" target="_blank">34986816</a><a href="/pmc/articles/PMC8729020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32053747">Diagnosis and management of primary bilateral macronodular adrenal hyperplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vassiliadi DA,
Tsagarakis S</span><br />
<span class="medgenPMjournal">Endocr Relat Cancer</span>
2019 Oct 1;26(10):R567-R581.
doi: 10.1530/ERC-19-0240.
<span class="bold">PMID: </span><a href="/pubmed/32053747" target="_blank">32053747</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28277127">A successful case of pregnancy in a woman with ACTH-independent Cushing's syndrome treated with ketoconazole and metyrapone.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zieleniewski W,
Michalak R</span><br />
<span class="medgenPMjournal">Gynecol Endocrinol</span>
2017 May;33(5):349-352.
Epub 2017 Feb 26
doi: 10.1080/09513590.2017.1290070.
<span class="bold">PMID: </span><a href="/pubmed/28277127" target="_blank">28277127</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19813002">Improvement of hypercortisolism by β-blocker therapy in subclinical Cushing's syndrome associated with ACTH-independent macronodular adrenocortical hyperplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oki K,
Yamane K,
Nakanishi S,
Nakashima R,
Jitsuiki K,
Kohno N</span><br />
<span class="medgenPMjournal">Endocrine</span>
2009 Dec;36(3):372-6.
Epub 2009 Oct 8
doi: 10.1007/s12020-009-9246-3.
<span class="bold">PMID: </span><a href="/pubmed/19813002" target="_blank">19813002</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%201%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35996143">A novel pathogenic variant of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
Wei F</span><br />
<span class="medgenPMjournal">BMC Endocr Disord</span>
2022 Aug 22;22(1):211.
doi: 10.1186/s12902-022-01128-x.
<span class="bold">PMID: </span><a href="/pubmed/35996143" target="_blank">35996143</a><a href="/pmc/articles/PMC9396781" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34986816">MicroRNA expression signature and target prediction in familial and sporadic primary macronodular adrenal hyperplasia (PMAH).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tan XG,
Zhu J,
Cui L</span><br />
<span class="medgenPMjournal">BMC Endocr Disord</span>
2022 Jan 5;22(1):11.
doi: 10.1186/s12902-021-00910-7.
<span class="bold">PMID: </span><a href="/pubmed/34986816" target="_blank">34986816</a><a href="/pmc/articles/PMC8729020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31256733">Abnormal glucose tolerance in a patient with pheochromocytoma and ACTH-independent subclinical Cushing's syndrome involving the same adrenal gland.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morita N,
Hosaka T,
Yamazaki Y,
Takahashi K,
Sasano H,
Ishida H</span><br />
<span class="medgenPMjournal">J Int Med Res</span>
2019 Jul;47(7):3360-3370.
Epub 2019 Jul 1
doi: 10.1177/0300060519855179.
<span class="bold">PMID: </span><a href="/pubmed/31256733" target="_blank">31256733</a><a href="/pmc/articles/PMC6683918" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24601692">Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Faucz FR,
Zilbermint M,
Lodish MB,
Szarek E,
Trivellin G,
Sinaii N,
Berthon A,
Libé R,
Assié G,
Espiard S,
Drougat L,
Ragazzon B,
Bertherat J,
Stratakis CA</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2014 Jun;99(6):E1113-9.
Epub 2014 Mar 6
doi: 10.1210/jc.2013-4280.
<span class="bold">PMID: </span><a href="/pubmed/24601692" target="_blank">24601692</a><a href="/pmc/articles/PMC4037724" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12744099">An unusual case of Cushing's syndrome due to ACTH-independent macronodular adrenal hyperplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rapetti S,
Francia G,
Iacono C,
Martignoni G,
Contessi G,
Brunelli M,
Galvanin F,
Serio G</span><br />
<span class="medgenPMjournal">Chir Ital</span>
2003 Mar-Apr;55(2):235-41.
<span class="bold">PMID: </span><a href="/pubmed/12744099" target="_blank">12744099</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22ACTH-independent%20macronodular%20adrenal%20hyperplasia%201%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 (7)</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/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/34986816">MicroRNA expression signature and target prediction in familial and sporadic primary macronodular adrenal hyperplasia (PMAH).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tan XG,
Zhu J,
Cui L</span><br />
<span class="medgenPMjournal">BMC Endocr Disord</span>
2022 Jan 5;22(1):11.
doi: 10.1186/s12902-021-00910-7.
<span class="bold">PMID: </span><a href="/pubmed/34986816" target="_blank">34986816</a><a href="/pmc/articles/PMC8729020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31672533">Study of abnormal adrenal receptors in subjects with ACTH-independent Cushing's syndrome and nodular adrenal hyperplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ferri J,
Perelló E,
Lorente RI,
Argente C,
Rossetti P,
Pedro T,
Martinez-Hervas S,
Real JT</span><br />
<span class="medgenPMjournal">Endocrinol Diabetes Nutr (Engl Ed)</span>
2020 Apr;67(4):245-252.
Epub 2019 Oct 28
doi: 10.1016/j.endinu.2019.07.005.
<span class="bold">PMID: </span><a href="/pubmed/31672533" target="_blank">31672533</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24601692">Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Faucz FR,
Zilbermint M,
Lodish MB,
Szarek E,
Trivellin G,
Sinaii N,
Berthon A,
Libé R,
Assié G,
Espiard S,
Drougat L,
Ragazzon B,
Bertherat J,
Stratakis CA</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2014 Jun;99(6):E1113-9.
Epub 2014 Mar 6
doi: 10.1210/jc.2013-4280.
<span class="bold">PMID: </span><a href="/pubmed/24601692" target="_blank">24601692</a><a href="/pmc/articles/PMC4037724" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22ACTH-independent%20macronodular%20adrenal%20hyperplasia%201%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=C1857451%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
<li><a href="/gtr/tests?term=C1857451%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1857451%5bDISCUI%5d" target="_blank">See all (16)</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%201)%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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