GONADAL-FUNCTION AND GLYCOPROTEIN HORMONES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME

Six females and six males with carbohydrate-deficient glycoprotein (CD G) syndrome type I, aged 4 months to 43 years, were examined for gonad al function and electrophoretic isoform patterns of four glycoprotein hormones: FSH, LH, TSH and erythropoietin. The female patients had a h ypergonadotrophic hypogonadism from an early age without detectable ov aries in three cases. In the males, testosterone levels tended to be l ow with normal or slightly raised gonadotrophin values. None of the fo ur glycoprotein hormone showed any signs of carbohydrate deficiency of the same type as in many liver-synthesized circulating glycoproteins. It is concluded that females with CDG syndrome type I have primary ov arian failure, and that the syndrome does not affect the terminal char ged carbohydrate portion in gonadotrophins, TSH or erythropoietin. The characteristic carbohydrate deficiency in some circulating glycoprote ins is thus not a generalized feature in this disease.