Hypergonadotropic hypogonadism in female patients with galactosemia.

  title={Hypergonadotropic hypogonadism in female patients with galactosemia.},
  author={Francine Ratner Kaufman and Maurice D. Kogut and George N. Donnell and U T Goebelsmann and Clark March and Richard Koch},
  journal={The New England journal of medicine},
  volume={304 17},
We evaluated gonadal function in 18 female and eight male patients with galactosemia due to transferase deficiency; it was normal in the males, but 12 females had signs of hypergonadotropic hypogonadism. All female patients had a 46,XX karyotype, normal levels of thyroid hormone and prolactin, and no anti-ovarian antibodies. The biologic activity of urinary gonadotropins was normal. Ultrasonography of the pelvis revealed that ovarian tissue was diminished or absent. Total estrogens increased in… CONTINUE READING