Abstract
In two unrelated girls with signs of excessive androgen production, the usual causes (premature adrenarche, mild congenital adrenal hyperplasia, adrenal or ovarian tumor) were excluded. Patient 1 presented at age 3.6 (bone age (BA) 3.75) yrs with hypertrophy (3cm) of the clitoris and erections. Urinary total 17KS (0.7mg/d) and individual steroids (5-pregnenetriol, pregnanetriolone, THS, THDOC, individual 17KS) and plasma DHEA(4.8) and 17OHP(2.7 nmol/l) were normal. Plasma estradiol (E2, 142pmol/l) was minimally elevated, but testosterone (T, 8.2) and androstenedione (A, 10.4nmol/l) were high. At laparotomy, ovarian cysts without evidence of a tumor were found and removed. After surgery, T(0.7) and A(1.6nmol/l) returned to normal and remained so during 5yrs of observation. The clitoris did not change, but erections occurred no longer. Patient 2 presented at 7.8 (BA 9.1) yrs with pubic (stage 2) and axillary hair. Urinary 17KS(1.9 mg/d) and individual steroids, as well as plasma DHEA(7.7), 17OHP(3.3nmol/l), and E2(139pmol/l) were normal, but T (7.7) and A (8.1 nmol/l) were elevated. Echography showed polycystic ovaries. Without treatment, T (1.9) and A (2.1 nmol/l)dropped to normal during 3 subsequent yrs, and appropriate puberty started later. Transiently increased ovarian T and A of unknown cause has to be included in the differential diagnosis of excessive androgen production in prepubertal girls.
Supported by Swiss National Science Foundation. (Grant 3874083)
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Muritano, M., Zachmann, M. & Prader, A. TRANSIENT OVARIAN TESTOSTERONE AND ANDROSTENEDIONE HYPERSECRETION: A CAUSE OF VIRILISATION OR PREMATURE PUBARCHE IN PREPUBERTAL GIRLS. Pediatr Res 20, 1199 (1986). https://doi.org/10.1203/00006450-198611000-00156
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DOI: https://doi.org/10.1203/00006450-198611000-00156