Primary glucocorticoid receptor defect with likely familial involvement.
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.
Vecsei
P
P
Department of Pharmacology, Heidelberg University, Germany.
Frank
K
K
Haack
D
D
Heinze
V
V
Ho
A D
AD
Honour
J W
JW
Lewicka
S
S
Schoosch
M
M
Ziegler
R
R
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*
D000728:Androgens; D011944:Receptors, Androgen; D011965:Receptors, Glucocorticoid; D000324:Adrenocorticotropic Hormone