title: Late-onset congenital adrenal hyperplasia with Cushing syndrome.
abstract: Although hirsutism is classically part of the clinical presentation of polycystic ovarian syndrome (PCOS), congenital adrenal hyperplasia and Cushing's syndrome (CS), CS associated with underlying late-onset congenital adrenal hyperplasia (LCAH) in an adult has not been previously reported. We herein present the case of a 25-year-old woman who was followed for PCOS for seven years. After undergoing detailed tests described within the text, she received the diagnosis of LCAH and was found to have point mutations. Interestingly, she later had diagnosis of endogenous CS that regressed folowing excision of an adrenal adenoma found on MRI. The present patient thus exhibited the coexistence of two paradoxical endocrine pathologies.
authors.affiliation: Department of Endocrinology and Metabolic Diseases, Ufuk University Medical Faculty, Turkey.
authors.forename: Gurbuz
authors.initials: G
authors.lastname: Erdogan
authors.forename: Recai
authors.initials: R
authors.lastname: Pabuccu
authors.forename: Sibel
authors.initials: S
authors.lastname: Ertek
authors.forename: Shoshana
authors.initials: S
authors.lastname: Israel
authors.forename: Banu
authors.initials: B
authors.lastname: Yilmaz
authors.forename: Hilal
authors.initials: H
authors.lastname: Yilmaz
authors.forename: Gamze
authors.initials: G
authors.lastname: Caglar
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D003480:Cushing Syndrome / Q000175:diagnosis / Q000209:etiology*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006628:Hirsutism / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D017354:Point Mutation; D011085:Polycystic Ovary Syndrome / Q000150:complications* / Q000175:diagnosis; D013255:Steroid 21-Hydroxylase / Q000235:genetics / Q000378:metabolism
chemical_list: D004247:DNA; D013255:Steroid 21-Hydroxylase