ArticleHuman genetics2026
Genetic landscape of male infertility: chromosomal abnormalities and Y chromosome microdeletions in a Turkish cohort (1 314 Cases).
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Abstract
Male infertility affects a significant portion of the global population and can arise from genetic and physiological abnormalities. This study assessed the clinical and genetic characteristics of 1 314 infertile males. Parameters included family history, age, marital duration, presence of physical conditions, clinical diagnoses (oligospermia and azoospermia), cytogenetic and Y-chromosome microdeletion analysis, and other laboratory data. The mean age was 31.37 years, with an average marital duration of 4.6 years. Oligospermia was observed in 601 patients, while 713 had azoospermia. Chromosomal abnormalities were identified in 9.89% (130/1 314) of cases, while 90.11% (1 184/1 314) showed a normal constitutional karyotype. The most prevalent chromosome abnormality was 47,XXY and its variants (n = 78, 5.94%). Azoospermia factor (AZF) deletion on the Y chromosome long arm (Yq) was found in 3.73% (49/1 314) of participants, occurring in 6.17% (44/713) of azoospermic and 0.83% (5/601) of oligospermic individuals. The most frequent microdeletions were detected in the AZFc region, with 23 cases showing AZFc deletion only. This study provides valuable insights into the intricate relationships among the clinical, cytogenetic, and molecular presentations of male infertility. These findings emphasize the importance of a multifaceted approach to diagnose and manage male infertility, taking into consideration both genetic and clinical factors.
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