Conditions / Genetic

X-linked spermatogenic failure 9

info ยท Genetic

A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest that has_material_basis_in hemizygous mutation in the RBBP7 gene on chromosome Xp22.

Signs and symptoms

  • Elevated circulating luteinizing hormone level
  • Male infertility
  • Elevated circulating follicle stimulating hormone level
  • Decreased serum testosterone concentration
  • Leydig cell neoplasia
  • Decreased testicular size
  • Spermatogenesis maturation arrest
  • Non-obstructive azoospermia
  • Neoplasm
  • Lymphadenopathy