Conditions / Genetic

spermatogenic failure 57

info ยท Genetic

A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q2

A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3.

Signs and symptoms

  • Male infertility
  • Spermatogenesis maturation arrest
  • Decreased testicular size
  • Non-obstructive azoospermia

Also known as: SPGF57