Molecular Study on Y Chromosome Microdeletion in Male Infertility: A Cross-Sectional Design in Indonesian Men

Abstract

Y chromosome microdeletions (YCMs) are one kind of genetic disorder that contributes to male infertility. This study aims to determine the profile of YCMs in the infertile male population in Indonesia. This cross-sectional study was conducted by identifying YCMs testing data on 49 infertile male patients identified with azoospermia and oligoasthenoteratozoospermia (OAT) based on their sperm analysis, who visited andrology polyclinics in several hospitals in Yogyakarta Province between March 2021 to August 2022. Study participants underwent YCMs testing at the Molecular Medicine and Therapy Research Laboratory, Muhammadiyah University of Yogyakarta, Indonesia, using the Polymerase Chain Reaction (PCR) method according to the procedures established by the laboratory. Four out of 49 (8.2%) participants were identified to have YCMs with deletions in the Azoospermia Factor C (AZFc) subregion. Two participants identified with YCMs had cryptozoospermia in their sperm analysis. Hormonal examination showed variable results in 4 participants, including hypergonadotropic, hypogonadism, and normogonad. All participants in the study identified with YCMs showed a deletion in the AZFc subregion. This type of deletion is different from previous studies in Indonesia, so broad examinations of infertile male patients are required to figure out the deletion profile in a larger population of Indonesian sterile males.