Hyperandrogenism in girls with juvenile neuronal ceroid lipofuscinosis.

Acne and hirsutism are common findings in girls with juvenile neuronal ceroid lipofuscinosis (JNCL). A study on their hormonal status was conducted to investigate the mechanisms underlying these symptoms. Sixteen girls with JNCL entered the study. Ten of the girls had periodic menstruation, while three were given medroxyprogesterone acetate therapy to prevent menstrual bleeding, and three had earlier undergone an ovariectomy. Ten age- and weight-matched healthy girls served as controls. Age at menarche, menstrual cycle length, acne, and hirsutism were assessed. Extensive hormonal laboratory tests were made in the early follicular phase. In addition, 1.5 Tesla magnetic resonance imaging of the lower abdomen was performed to search for structural abnormalities of the ovaries. The mean age at menarche in these JNCL patients was 11.6 years. Of the patients with periodic menstruation, four of ten had irregular (prolonged) cycles, but, in patients with regular cycles, the mean ovarian cycle was short (26 days). Hyperandrogenism, characterized by acne, hirsutism and/or hyperandrogenaemia, was found significantly more often in the patients than in the controls (p<0.01). No significant differences were found in the laboratory parameters. Polycystic ovaries were found in two of seven of the patients who menstruated, but in none of the healthy controls. Hyperandrogenism is common in patients with JNCL. In addition, there is an early menarche and signs of anovulation. The factors underlying these hormonal changes seem complex, possibly including a neurodegenerative process, the obesity associated with JNCL, and the drugs used for symptomatic treatment of the patients.