Conditions / Genetic

hypogonadotropic hypogonadism 6 with or without anosmia

info · Genetic · ICD-10: E23.0

A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene.

Signs and symptoms

  • Micropenis
  • Hypogonadotropic hypogonadism
  • Delayed skeletal maturation
  • Small pituitary gland
  • High palate
  • Primary amenorrhea
  • Cryptorchidism
  • Sensorineural hearing impairment
  • Delayed puberty
  • Cleft lip