Disease ID | Source | Name | Description |
228300 | OMIM | Hypogonadotropic hypogonadism 23 without anosmia (HH23) | A form of hypogonadotropic hypogonadism, a group of disorders 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. HH23 male patients have normal sexual differentiation, reduced or absent Leydig cells, reduced or absent spermatogenesis, and absence of spontaneous puberty. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea. The disease is caused by variants affecting the gene represented in this entry. |