Familial persistent pulmonary hypertension

Hypergonadotropic hypogonadism in two sisters with galactosaemia 783 well as galactitol concentrations in amniotic fluid about 15 times above normal have been well documented in early second trimester fetuses.4 To our knowledge, galactose and its metabolites have not been measured in gonadal tissue so far. A striking reduction in the number of small oocytes was found in the offspring of rats fed a 50% galactose diet in the first two thirds of pregnancy.5 Thus, prenatal exposure to galactose or its metabolites may be a cause of premature ovarian failure in human galactosaemia. Whether the toxic agent is of maternal or fetal origin remains to be established. There is good evidence that transferase deficient infants can synthesise galactose-1-phosphate from glucose via the epimerase and pyrophosphorylase pathway which may lead to self intoxication.6 Therefore, strict avoidance of galac-tose in some high risk pregnancies may not be sufficient for prevention of gonadal damage in the galactosaemic offspring. Familial expression of galactosaemia may differ as not all homozygous women have ovarian failure ' and correlation be-tween initiation of treatment and hypogonadism may be poor,2 (this report). Clearly more detailed and carefully planned studies are necessary to elucidate these new problems in this otherwise well known disease