Sertoli-cell-only syndrome

Pathology

• infertility disorder
• no germ cells are visible in seminiferous tubules

Genetics

• deletion of the 'azoospermia factor a' (AZFa) region on chromosome Y
  • no expression of SPATA9
  • no expression of USP9Y
    • AZFa deletions resulting in complete loss of USP9Y have been also found in normospermic men

Clinical manifestations

• azoospermia

More general terms

• genetic syndrome (multisystem disorder)