Genetic Basis of Sperm Morphologic Defects: Head Defects and Body and Tail Defects

  • Vineet MalhotraEmail author


Prevalence of male infertility in India has reached to approximately 25% of the global infertility problem, making it a great concern for couples as well as clinicians. Among multifactorial aetiology which contributes to male infertility, genetic abnormalities play an important role of risk factor and cannot be ignored. Therefore, recognising and understanding how genetic abnormalities influence male infertility is the foremost agenda of most research groups worldwide. Chromosomal abnormalities, Y chromosome microdeletions, monogenic disorders and genetic variability in several genes (SYCP3, CREM, FHL5, PRM1, NALP14, KLHL10) are the most known and frequent genetic influencers implicated in male infertility studies. Association between genetic, lifestyle and environmental factors and abnormal sperm morphology have been reported previously. Chromosome nondisjunction and/or cytokinesis defects occurring during the first, the second or both meiotic divisions are consistently associated with large-headed spermatozoa. Patients presenting with a monomorphic teratozoospermia such as globozoospermia or macrospermia with more than 85% of the spermatozoa presenting this specific abnormality have been shown to be associated with several key genes for spermatogenesis such as AURKC and DPY19L2. The study of patients with other specific sperm anomalies such as severe alteration of sperm motility, in particular multiple morphological anomalies of the sperm flagella (MMAF) or sperm’s inability to fertilize the oocyte, has also enable the identification of new infertility genes. The identification and study of these genes will shed a much-needed light on the physiopathology of teratozoospermia, and will aid to improve patient management, to provide a basis for the development of therapeutic solutions tailored to the gene defect and to provide the patients with adequate genetic counselling and expected treatment outcome. This chapter emphasises on the association of genetic abnormalities with sperm morphologic defects and their possible implication in understanding and improved management of male infertility.


Acephalic spermatozoa  AURKC  DPY19L2  Globozoospermia  Macrozoospermia  Male infertility  MMAF  SUN5  Teratozoospermia 


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Authors and Affiliations

  1. 1.Department of Urology and AndrologyDiyos HospitalNew DelhiIndia

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