Conditions / Genetic

hypogonadotropic hypogonadism 7 with or without anosmia

info · Genetic · ICD-10: E23.0

A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.

Signs and symptoms

  • Hypogonadotropic hypogonadism
  • Micropenis
  • Decreased testicular size
  • Sparse pubic hair
  • Primary amenorrhea
  • Sparse axillary hair
  • Cryptorchidism
  • Infertility
  • Gynecomastia
  • Abnormality of the sense of smell