title: Primary glucocorticoid receptor defect with likely familial involvement.
abstract: A 29-year-old woman with moderately elevated blood pressure and signs of hyperandrogenism (hirsutism and acne) but without typical Cushing's syndrome symptoms has been followed for almost 6 years. Steroid and glucocorticoid receptor studies indicated a primary glucocorticoid receptor defect. Elevated androgen values were of special interest. Clinical manifestation of hyperandrogenism seemed not to be proportional to the biochemical findings. Therefore, the possibility of a partial androgen receptor defect should also be considered.
authors.affiliation: Department of Pharmacology, Heidelberg University, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Vecsei
authors.forename: K
authors.initials: K
authors.lastname: Frank
authors.forename: D
authors.initials: D
authors.lastname: Haack
authors.forename: V
authors.initials: V
authors.lastname: Heinze
authors.forename: A D
authors.initials: AD
authors.lastname: Ho
authors.forename: J W
authors.initials: JW
authors.lastname: Honour
authors.forename: S
authors.initials: S
authors.lastname: Lewicka
authors.forename: M
authors.initials: M
authors.lastname: Schoosch
authors.forename: R
authors.initials: R
authors.lastname: Ziegler
mesh_terms: D000152:Acne Vulgaris / Q000209:etiology; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000328:Adult; D000728:Androgens / Q000378:metabolism; D005260:Female; D006628:Hirsutism / Q000209:etiology; D006801:Humans; D006973:Hypertension / Q000209:etiology; D011944:Receptors, Androgen / Q000502:physiology; D011965:Receptors, Glucocorticoid / Q000502:physiology*
chemical_list: D000728:Androgens; D011944:Receptors, Androgen; D011965:Receptors, Glucocorticoid; D000324:Adrenocorticotropic Hormone