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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

General

genetic syndrome (multisystem disorder)

References

  1. UniProt :accession Q9BWV2
  2. UniProt :accession O00507