Feminization in a galactosemic girl in the presence of hypergonadotropic hypogonadism

A galactosemic girl has been followed in our clinic since her 8th day of life when the diagnosis of transferase-deficiency galactosemia was made until her present age of 21 years. Although she presented with direct hyperbilirubinemia and severe liver dysfunction, her subsequent somatic and intellectual development under a strict galactose-free diet was normal. Liver function normalized. Her pubertal stage was Tanner B II and PH II at age 11.7 years and progressed normally to B V and PH V, but menarche did not occur. At age 16.8 years, low estradiol (51 pmol/L) and high gonadotropin levels (LH 44 U/L; FSH 43 U/L) were measured. Severely hypoplastic ovaries with a streak-like aspect were seen on laparoscopy. Sex chromatin was positive. Follow-up studies over the next 4 years confirmed elevated LH and FSH levels with an excessive response to stimulation with LHRH and persistently low estradiol levels (41 to 117 pmol/L). After an intravenous load of 200 mg DHEA-S, plasma estrone levels rose 1.8-fold and estradiol 11.4-fold above basal, demonstrating prompt conversion of androgens to estrogens. For over one year, the patient has been treated with the synthetic progestin norethisterone (15 mg per day for 10 days in a row every month) which has resulted in regular menstrual bleedings.