Conditions / Genetic

hypogonadotropic hypogonadism 13 with or without anosmia

info · Genetic · ICD-10: E23.0

A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32.

Signs and symptoms

  • Decreased circulating luteinizing hormone level
  • Decreased circulating follicle stimulating hormone concentration
  • Decreased serum estradiol
  • Hypogonadotropic hypogonadism
  • Hypoplasia of the uterus
  • Delayed skeletal maturation
  • Anosmia