Hypergonadotropic hypogonadism in two sisters with galactosaemia.
Two sisters with transferase deficiency galactosaemia presented with hypergonadotropic hypogonadism. In the younger girl galactosaemia was documented first at 9 months of age, although she had never been exposed to exogenous galactose in utero or after birth.
D002675:Child, Preschool; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D005693:Galactosemias / Q000097:blood / Q000150:complications / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000209:etiology / Q000235:genetics*; D007223:Infant; D007986:Luteinizing Hormone / Q000097:blood; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency
D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase