| Clinical, biochemical, and molecular characterization of macronodular adrenocortical hyperplasia of the zona reticularis: a new syndrome. | |
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MedLine Citation:
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PMID: 21084398 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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CONTEXT: Macronodular adrenocortical hyperplasia classically presents with progressive hypercortisolemia and Cushing syndrome. We describe a 29-yr-old man with massive macronodular adrenocortical hyperplasia without hypercortisolemia but rather markedly elevated and nonsuppressible production of dehydroepiandrosterone (DHEA) and its sulfate (DHEAS). OBJECTIVE: To characterize the clinical and molecular features of this case and to determine whether the tissue biochemically resembles the zona reticularis or fetal adrenal. SETTING: University clinic, hospital, and laboratories. DESIGN: Static and dynamic blood and urine testing were performed preoperatively. Tissue was studied by light microscopy, immunoblot, RNA microarray, and enzyme assay. PARTICIPANT: A 29-yr-old man with incidentally discovered bilateral adrenal enlargement. INTERVENTION: Bilateral adrenalectomy. MAIN OUTCOME MEASURES: Molecular studies compared with control samples. RESULTS: Hypercortisolism and 21-hydroxylase deficiency were excluded. DHEA, DHEAS, and 17-hydroxypregnenolone were markedly elevated and did not suppress with dexamethasone 2 mg/d for 4 d. Homogenates of the adrenals demonstrated high 17-hydroxylase, good 17,20-lyase, and low or absent 21-hydroxylase and 3β-hydroxysteroid dehydrogenase activities. Immunoblots confirmed robust expression of cytochrome P450c17 and AKR1C3 but not P450c21. Microarray analysis demonstrated high CYP11A1 and CYP17A1 expression but low or absent HSD3B1, HSD3B2, and CYP21A2 expression. Expression of mRNA for cytochrome b(5) (CYB5A) and AKR1C3, markers of the zona reticularis, were markedly elevated. CONCLUSION: This is the first case of macronodular hyperplasia of the adrenal zona reticularis confirmed with studies of enzyme activity, mRNA expression, and protein identification. We speculate that this condition can be clinically silent in men but might cause severe hyperandrogenemia in women. |
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Authors:
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Hans K Ghayee; Juilee Rege; Lori M Watumull; Fiemu E Nwariaku; Kelley S Carrick; William E Rainey; Walter L Miller; Richard J Auchus |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2010-11-17 |
Journal Detail:
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Title: The Journal of clinical endocrinology and metabolism Volume: 96 ISSN: 1945-7197 ISO Abbreviation: J. Clin. Endocrinol. Metab. Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-02-07 Completed Date: 2011-03-21 Revised Date: 2013-05-20 |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: United States |
Other Details:
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Languages: eng Pagination: E243-50 Citation Subset: AIM; IM |
Affiliation:
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Division of Endocrinology and Metabolism, Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390-8857, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Glands
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pathology Adrenal Hyperplasia, Congenital / genetics, metabolism, pathology* Adrenalectomy Adult Blotting, Western DNA, Complementary / biosynthesis, genetics Dehydroepiandrosterone / metabolism Fetus / pathology Humans Hydrocortisone / blood Male Microarray Analysis RNA / biosynthesis, genetics, isolation & purification Reverse Transcriptase Polymerase Chain Reaction Syndrome Testosterone / blood Tomography, X-Ray Computed Zona Reticularis / pathology* |
| Grant Support | |
ID/Acronym/Agency:
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R01 DK037922-22/DK/NIDDK NIH HHS; R01 DK043140-18/DK/NIDDK NIH HHS; R01 DK069950/DK/NIDDK NIH HHS; R01-DK069950/DK/NIDDK NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/DNA, Complementary; 50-23-7/Hydrocortisone; 53-43-0/Dehydroepiandrosterone; 58-22-0/Testosterone; 63231-63-0/RNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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