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Case Report
AURKC mutation beyond macrozoospermia: a case report and literature review on a novel exon 7 variant linked to acephalic sperm morphology
Mohammad Eslami
1 
, Saman Abdollahpour
1 , Parisa Pouyan
2 , Atena Talebpoor Amirhandeh
1 , Marjan Sabbaghian
3 , Farzaneh Kianifar
4* , Amir Reza Vahid Dastjerdi
5 , Nima Vosoughi
1 , Roya Olad Masihi
6 , Reza Mohajer Shirazi
6 , Mehnoosh Shojaei
3* , Sanaz Amiri Marbini
7 1 Department of Pathology, Emam Hossein Educational Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2 Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3 Royan Institute for Reproductive Biomedicine, Stem Cell Biology and Technology, Tehran, Iran
4 Internal Medicine Ward, Rasool Akram Hospital Center, Iran University of Medical Sciences, Tehran, Iran
5 Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
6 Faculty of Medicine, Islamic Azad University of Medical Sciences, Tehran, Iran
7 Department of Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Abstract
Acephalic spermatozoa syndrome is a rare and severe form of teratozoospermia caused by defects in the head–tail coupling apparatus. Several genes, including SUN5, PMFBP1, and TSGA10, have been implicated. AURKC mutations, however, are traditionally associated with macrozoospermia and have not previously been linked to this syndrome. We report a consanguineous case of male infertility characterized by >90% acephalic spermatozoa and a novel heterozygous missense mutation in exon 7 of the AURKC gene (c.203A>G, p.Arg→Gly). This mutation has not been previously described in association with any sperm morphology defect other than macrozoospermia. The patient had no history of macrocephalic sperm, and standard semen analysis confirmed a monomorphic acephalic phenotype. This is the first report of a heterozygous AURKC exon 7 mutation associated with acephalic spermatozoa syndrome. The case expands the known phenotypic spectrum of AURKC-related infertility and highlights the importance of full-gene sequencing in patients with severe sperm morphological abnormalities.
Citation: Eslami M, Abdollahpour S, Pouyan P, Talebpoor Amirhandeh A, Sabbaghian M, Kianifar F, Vahid Dastjerdi AR, Vosoughi N, Olad Masihi R, Mohajer Shirazi R, Shojaei M, Amiri Marbini S. AURKC mutation beyond macrozoospermia: a case report and literature review on a novel exon 7 variant linked to acephalic sperm morphology. Immunopathol Persa. 2027;13(1):e44000. DOI:10.34172/ipp.2026.44000.