Molecular genetic mechanisms of teratozoospermia

Abstract

Summary In recent years, the incidence of teratospermia has been increasing, and it has become a very important factor leading to male infertility. The research on the molecular mechanism of teratospermia is also progressing rapidly. This article briefly summarizes the clinical incidence of teratozoospermia, and makes a retrospective summary of related studies reported in recent years. Specifically discussing the relationship between gene status and spermatozoa, the review aims to provide the basis for the genetic diagnosis and gene therapy of teratozoospermia.

Genetic Causes of Qualitative Sperm Defects: A Narrative Review of Clinical Evidence

“…Finally, needle spermatozoa are characterised by small head deformities, tapered heads, and irregular shapes. Whilst in animal models, SPATA6 deletion has been associated with the development of needle spermatozoa, no human data regarding needle spermatozoa are available yet [127].…”

“…In conclusion, in Table 3, we report genetic alterations involved in the development of abnormal sperm morphology, distinguishing between the well-studied genetic alterations (which are, indeed, recommended in clinical practice) and the poorly studied genetic alterations identified in single patients or few subjects as of yet. To summarise the recommendations regarding genetic analysis that might be used in clinical practice, we referred to clinical guidelines, genetic reviews, and current opinions, besides the opinion of the authors of this manuscript [13,73,113,127,143].…”