A primitive gonadal failure was observed in 2, 20 and 18 years old galactosemic female patients. The conditions was clinically suspected because of primary amenorrhea in one case and delayed puberty, followed by spaniomenorrhea in the other case, and confirmed by very low plasma estradiol and very high plasma gonadotropin levels. Galactose-free diet was started at 9 months of age in the first case and soon after birth in the second. Several similar cases have been recently reported. Primitive gonadal failure associated with galactosemia suggests a possible toxic' destruction of the ovaries during the intrauterine life by a galactose metabolite.
Adolescent Adult