Conditions / Genetic

hypogonadotropic hypogonadism 22 with or without anosmia

info · Genetic · ICD-10: E23.0

A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31.

Signs and symptoms

  • Micropenis
  • Decreased circulating luteinizing hormone level
  • Decreased circulating follicle stimulating hormone concentration
  • Decreased serum testosterone concentration
  • Anosmia
  • Decreased serum estradiol
  • Decreased testicular size
  • Hypogonadism
  • Reduced response to gonadotropin-releasing hormone stimulation test
  • Cryptorchidism