An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female

Hypergonadotropic hypogonadism is characterized by decreased gonadal function due to the inability of the gonads to respond to pituitary gonadotropins.Hypergonadotropic hypogonadism in fe males has many causes, among which are ovarian dysgenesis and abnormalities of the ovarian receptors for the pituitary gonadotro pins.We evaluated a woman who presented with amenorrhea due to hypergonadotropic hypogonadism, but who had structurally normal ovaries* She is a sister of two previously identified 46fXY male pseudohermaphrodites with Ley dig cell hypoplasia.Injection of hCG did not cause any change in plasma levels of estradiol or progesterone, suggesting complete ovarian resistance to LH. Analysis of the DNA sequence of the LH receptor gene revealed that the patient is ho mozygous for the same single base change as her two brothers.