Analysis of Genetic Factors Contributing to Male Infertility at Federal Medical Centre Yola, Adamawa State

Male factor infertility accounts for approximately 40 to 50 percent of infertility cases in couples worldwide. Genetic causes including chromosomal abnormalities, Y chromosome microdeletions, and single-gene mutations represent significant aetiological contributors. This study analysed genetic factors among male infertility patients presenting at the Federal Medical Centre Yola, Adamawa State, North East Nigeria. Fifty male patients with confirmed infertility (azoospermia or severe oligozoospermia) were enrolled along with 50 fertile male controls. Karyotyping was performed using G-banding on peripheral blood lymphocyte cultures. Y chromosome microdeletion analysis targeting AZFa, AZFb, and AZFc regions was carried out using multiplex PCR with sequence-tagged site (STS) markers. Cystic fibrosis transmembrane conductance regulator (CFTR) gene screening was also performed given its association with congenital absence of the vas deferens. Chromosomal abnormalities including Klinefelter syndrome (47,XXY) were detected in a subset of patients. AZFc microdeletions were the most common Y-linked defect. These findings support the integration of molecular genetic testing into male infertility evaluation protocols at Federal Medical Centre Yola. Keywords: male infertility, Y chromosome microdeletion, AZF, Klinefelter syndrome, Adamawa State