Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report

BACKGROUND: Acephalic spermatozoa syndrome (ASS) is an extremely rare form of severe teratozoospermia, where in most of the sperm either appear to lack heads or have disconnected or poorly connected heads and tails. CASE SUMMARY: c.393del (p.C132Afs*3). CONCLUSION: may be the cause of ASS. We conducted a literature review in order to provide the basis for genetic counseling and clinical diagnosis of patients with ASS.