[Ovarian insufficiency in congenital galactosemia]

Primary ovarian failure was observed in 2 sisters aged 17 and 4 years respectively presenting with congenital galactosaemia. The diagnosis of ovarian failure, clinically suggested in the older girl by the absence of puberty, was confirmed in both cases by a massive increase of baseline and post-stimulation plasma gonadotrophins. The elder sister had extremely low plasma oestradiol levels, and her ovaries were reduced to two strips of fibrous stroma almost devoid of follicles. In both cases the other endocrine glands seemed to be normal. Since the younger girl had received a galactose-free diet from birth, exogenous galactose toxicity could be ruled out. It appears from an analysis of the other 5 published reports that a metabolite of endogenous galactose is responsible for the ovarian lesions. The toxic effects of this metabolite may begin during intra-uterine life or after-birth.