Abstract
5 of 10 members of a non-related North African family(father, 2 male, 2 female siblings) were observed or reported to have had gynecomastia, early growth spurt for chronologic age(CA), and short final stature. The extensively studied 8 year old propositus had advanced bone age (BA, 13 yrs) and height 135.6cm (normal for CA (+1.1SD), short for BA(-2.5SD)). He presented with facial acne, gynecomastia (B3), pubic hair (Tanner 2), and testicular volume 2ml. Blood pressure was normal (90/70 mmHg). Urinary total 17-KS (2.1mg/d),17-OHC(2.4mg/d), and individual steroids (gas chromatography) were normal .Cortisol, S, and 17OHP in plasma responded normally to ACTH. Basal estrone (E1, 181 pg/ml) was elevated, and increased with ACTH (223 pg/ml). After hCG, testosterone(T) responded normally(55 to 164ng/dl), but neither E1(135 to 139pg/ml), nor estradiol(E2,86 to 85 pg/ml) did increase. The assumption of ACTH-dependent adrenal feminization was confirmed by a reduction of breast tissue with dexamethasone or cyproterone acetate treatment. However, this effect was only transient. Subsequent testolactone treatment (450 mg/d) resulted in an increase of the T/E2 (5.6 to 20.3),and A/E1(3.4 to 31.4) ratios, and in reduction of breast tissue. It is concluded that this is a familial type of non-tumorous adrenal feminization with increased adrenal androgen aromatization for unknown reasons.
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