Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone production, action, or both.
Genes:
GNRHR
Disorders:
Hypogonadotropic Hypogonadism, Infertility
Clinical Utility:
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members