Conditions / Genetic

hypogonadotropic hypogonadism 16 with or without anosmia

info · Genetic · ICD-10: E23.0

A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes.

Signs and symptoms

  • Decreased circulating luteinizing hormone level
  • Decreased circulating follicle stimulating hormone concentration
  • Decreased serum testosterone concentration
  • Decreased serum estradiol
  • Primary amenorrhea
  • Hyposmia
  • Hypogonadism
  • Hypoplasia of the olfactory bulb
  • Micropenis
  • Decreased testicular size