Hypergonadotroper Hypogonadismus bei Galaktosämie

Classical galactosaemia due to galactose-1-phosphate-uridyltransferase deficiency is an inherited metabolic disorder with an estimated incidence of 1:40,000 in the Caucasian population. In neonates the disease presents as hepatopathy with cerebral involvement. Without treatment classic galactosaemia leads to cataract, hepatic insufficiency and failure to thrive, and may finally be fatal. Treatment consists of a lactose-free diet. Despite early initiation of dietary treatment and long-term compliance, more than 80% of female patients develop hypergonadotropic hypogonadism. This paper aims to give practical recommendations for diagnosis and treatment of hypergonadotropic hypogonadism in patients with classical galactosaemia.