title: A case of congenital adrenal hyperplasia mimicking Cushing's syndrome.
abstract: Congenital adrenal hyperplasia (CAH) is characterized by decreased adrenal hormone production due to enzymatic defects and subsequent rise of adrenocorticotrophic hormone that stimulates the adrenal cortex to become hyperplastic, and sometimes tumorous. As the pathophysiology is basically a defect in the biosynthesis of cortisol, one may not consider CAH in patients with hypercortisolism. We report a case of a 41-yr-old man with a 4 cm-sized left adrenal tumorous lesion mimicking Cushing's syndrome who was diagnosed with CAH. He had central obesity and acanthosis nigricans involving the axillae together with elevated 24-hr urine cortisol level, supporting the diagnosis of Cushing's syndrome. However, the 24-hr urine cortisol was suppressed by 95% with the low dose dexamethasone suppression test. CAH was suspected based on the history of precocious puberty, short stature and a profound suppression of cortisol production by dexamethasone. CAH was confirmed by a remarkably increased level of serum 17-hydroxyprogesterone level. Gene mutation analysis revealed a compound heterozygote mutation of CYP21A2 (I173N and R357W).
authors.affiliation: Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hye Jeong
authors.initials: HJ
authors.lastname: Kim
authors.forename: Mira
authors.initials: M
authors.lastname: Kang
authors.forename: Jae Hyeon
authors.initials: JH
authors.lastname: Kim
authors.forename: Sun Wook
authors.initials: SW
authors.lastname: Kim
authors.forename: Jae Hoon
authors.initials: JH
authors.lastname: Chung
authors.forename: Yong-Ki
authors.initials: YK
authors.lastname: Min
authors.forename: Moon-Kyu
authors.initials: MK
authors.lastname: Lee
authors.forename: Kwang-Won
authors.initials: KW
authors.lastname: Kim
authors.forename: Myung-Shik
authors.initials: MS
authors.lastname: Lee
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000052:Acanthosis Nigricans / Q000150:complications; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D000328:Adult; D003480:Cushing Syndrome / Q000175:diagnosis; D004252:DNA Mutational Analysis; D003907:Dexamethasone / Q000627:therapeutic use; D005938:Glucocorticoids / Q000627:therapeutic use; D006579:Heterozygote; D006801:Humans; D006854:Hydrocortisone / Q000652:urine; D008297:Male; D009154:Mutation; D009765:Obesity / Q000150:complications; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D005938:Glucocorticoids; D019326:17-alpha-Hydroxyprogesterone; D003907:Dexamethasone; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase; D006854:Hydrocortisone