| Cushing syndrome in a young woman due to primary pigmented nodular adrenal disease. | |
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MedLine Citation:
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PMID: 19703806 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To report a case of Cushing syndrome due to apparently sporadic primary pigmented nodular adrenal disease in a young woman. METHODS: We describe the clinical, biochemical, radiologic, and histologic findings of Cushing syndrome due to the rare condition of primary pigmented nodular adrenal disease. RESULTS: A 30-year-old woman presented with a 2-year history of worsening itch without rash over her shoulders and arms and weight gain, particularly around the abdomen and face. Careful questioning did not elicit any history of exogenous glucocorticoid use (systemic or topical), including hydrocortisone. On examination, the patient had a slightly rounded and plethoric face, a small buffalo hump, central adiposity, and thin skin with a few small striae on her inner thighs. No features of the Carney complex were observed. Investigations showed hypercortisolism with suppressed corticotropin and normal adrenal imaging despite documentation of enlarged adrenal glands at removal. High-dose dexamethasone administration was followed by a decrease in urinary free cortisol excretion rather than a paradoxical rise as previously reported in primary pigmented nodular adrenal disease. No mutations were detected in the PRKAR1A gene. CONCLUSIONS: Primary pigmented nodular adrenal disease should be suspected in patients with corticotropin-independent Cushing syndrome who have normal adrenal imaging. The role of genetic testing in apparently sporadic cases is not established, but cumulative experience may be helpful in defining the frequency of PRKAR1A mutations. |
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Authors:
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Kathryn L Hackman; Anna L Davis; Paul A Curnow; Jonathan W Serpell; Catriona A McLean; Duncan J Topliss |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists Volume: 16 ISSN: 1934-2403 ISO Abbreviation: Endocr Pract Publication Date: 2010 Jan-Feb |
Date Detail:
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Created Date: 2010-02-11 Completed Date: 2010-04-28 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9607439 Medline TA: Endocr Pract Country: United States |
Other Details:
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Languages: eng Pagination: 84-8 Citation Subset: IM |
Affiliation:
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Department of Endocrinology and Diabetes, The Alfred, Melbourne, Australia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Cortex Diseases
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complications*,
genetics,
pathology Adult Anti-Inflammatory Agents / therapeutic use Cushing Syndrome / drug therapy, etiology*, genetics, pathology Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / genetics Dexamethasone / therapeutic use Female Humans Mutation |
| Chemical | |
Reg. No./Substance:
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0/Anti-Inflammatory Agents; 0/Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; 0/PRKAR1A protein, human; 50-02-2/Dexamethasone |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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