مروری بر ریزحذف‌های(AZFc,AZFb,AZFa) کروموزوم Y و نقش آن‌ها در ناباروری مردان

Abstract

Abstract

Y-chromosome microdeletions are among the most common genetic abnormalities observed in men and are strongly associated with male infertility and disorders of spermatogenesis. The regions AZFa, AZFb, and AZFc on the Y chromosome are of particular importance because they contain critical genes involved in sperm production, and deletions within these regions may lead to azoospermia or oligozoospermia. The present study aims to provide a comprehensive review of Y-chromosome microdeletions from clinical, genetic, and population perspectives, as well as to examine current diagnostic and therapeutic approaches. This research employed a descriptive–analytical library-based method, in which reliable scientific sources and previous studies related to Y-chromosome microdeletions and their association with male infertility were systematically reviewed and analyzed. The findings from the reviewed studies indicate that complete deletion of the AZFa region is typically associated with a total absence of sperm, whereas deletions in the AZFb and AZFc regions may result in reduced sperm count or partial arrest of spermatogenesis. The prevalence of these microdeletions varies depending on genetic background, ethnicity, family history, and environmental factors. Molecular techniques such as polymerase chain reaction (PCR) and genomic sequencing represent essential tools for detecting and precisely mapping these deletions, thereby enabling more accurate prediction of fertility status. Furthermore, the use of assisted reproductive technologies (ART), particularly intracytoplasmic sperm injection (ICSI), along with genetic counseling, is of significant clinical importance, especially in cases where limited sperm are present. A comprehensive understanding of Y-chromosome microdeletions, the identification of critical genomic regions, and the application of advanced molecular methods play a crucial role in the management of male infertility and in developing effective preventive strategies.

Keywords: Y-chromosome microdeletion, male infertility, azoospermia, oligozoospermia, genomic sequencing.