Sumesh Choudhary, Deepa Shah, Hardik Sheth, Rohina Aggarwal, Pritti K Priya, Kunur N Shah
Keywords :
Acephalic spermatozoa, Case report, Genetic mutation, Intracytoplasmic sperm injection, Male infertility, Pinhead sperms
Citation Information :
Choudhary S, Shah D, Sheth H, Aggarwal R, Priya PK, Shah KN. Acephalic Spermatozoa Syndrome: A Case Report. J South Asian Feder Obs Gynae 2024; 16 (4):447-449.
Background: Male infertility accounts for around 50% of the total burden of infertility. Teratozoospermia, morphological abnormalities of sperm, is known to be a significant condition that leads to male infertility. Acephalic spermatozoa syndrome (ASS), previously misdescribed as pinhead spermatozoa, is a rare genetic condition related to faults in the protein-coding genes of the head-tail coupling apparatus (HTCA) of sperm. This condition manifests with spermatogenic failure with the presence of headless sperms and sperms with tail insertion defects in the ejaculate. The main etiology of ASS is the error in SUN5 or PMFBP1 genes, which is diagnosed using whole-exome sequencing. Intracytoplasmic sperm injection (ICSI) is the only method to circumvent infertility regardless of the etiology of the defects. However, due to various reasons, these technologies do not always guarantee success for all couples seeking reproductive assistance.
Case description: A 33-year-old male presented with primary infertility and was diagnosed with teratozoospermia with predominant acephalic spermatozoa. On further genetic analysis, he was found to have a pathogenic nonsense variant in the PMFBP1 gene that is linked with spermatogenic failure. Intracytoplasmic sperm injection was performed for the patient; however, there was no fertilization despite the injection of ordinary-appearing sperms.
Conclusion: Although ICSI is possible for most patients irrespective of the etiology of defects, the outcomes can be complex in different types of ASS and do not guarantee successful fertilization and pregnancy. Identification of genetic mutations and the proteins encoded by the genes may help define their prognosis and may also indicate the possible need for sperm donors.
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