title: Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients.
abstract: Carney complex (CNC) is a rare dominantly inherited multiorgan tumoral disorder that includes Cushing syndrome (CS). To establish the Mayo Clinic experience with the CS component, including its clinical, laboratory, and pathologic findings, we performed a retrospective search of the patient and pathologic databases of Mayo Clinic in Rochester, MN, for patients with CNC and clinical or laboratory findings of CS. Thirty-seven patients with CNC were identified. Twenty-nine had clinical, pathologic, or laboratory evidence of an adrenocortical disorder. Seventeen had classic CS; 15 underwent bilateral, subtotal, or partial unilateral adrenalectomy, and 2 had no treatment. Pathologically, the glands were normal sized or slightly enlarged with multiple small (1 to 4 mm), brown, black, and yellow micronodules (primary pigmented nodular adrenocortical disease; PPNAD). Three glands each had a mass: a 2 cm adenoma, a 1.5 cm macronodule, and an unencapsulated 1.8 cm myelolipoma. Fourteen of the patients were alive at follow-up, and 3 were deceased; 2 of the latter had PPNAD at autopsy, and the third had PPNAD at surgery. Twelve patients without clinical features of classic CS had abnormal adrenocortical testing results; none developed classic CS during follow-up (mean, 10 y). Autopsy findings in 1 showed bilateral vacuolated cell cortical hyperplasia.
authors.affiliation: *Department of Internal Medicine †Division of Endocrinology, Diabetes, Metabolism and Nutrition §Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN ‡Section on Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
authors.forename: Kathleen M
authors.initials: KM
authors.lastname: Lowe
authors.forename: William F
authors.initials: WF
authors.lastname: Young
authors.forename: Charalampos
authors.initials: C
authors.lastname: Lyssikatos
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
authors.forename: J Aidan
authors.initials: JA
authors.lastname: Carney
mesh_terms: D000311:Adrenal Glands / Q000473:pathology*; D000328:Adult; D056733:Carney Complex / Q000150:complications* / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003480:Cushing Syndrome / Q000209:etiology*; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human