Conditions / Genetic

spermatogenic failure 54

info ยท Genetic

A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP

A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35.

Signs and symptoms

  • Coiled sperm flagella
  • Male infertility
  • Tapered sperm head
  • Reduced sperm motility
  • Abnormal sperm axoneme morphology
  • Short sperm flagella
  • Oligozoospermia
  • Cryptozoospermia

Also known as: SPGF54