Karyotype Analysis In Cases Of Primary Male Infertility

ABSTRACT

Introduction: Infertility is a major health problem in 10-15% Indian couples affecting their psychological andsocial wellbeing. There is increasing recognition to the contribution of genetic abnormalities to the causation ofmale infertility. Genetics play a important role in infertility by controlling the physiological processes includinghormonal factors, spermatogenesis, and sperm quality. The aim of the study was to find out the Chromosomalabnormalities that play a major role in male infertility cases with non-obstructive azoospermia and oligospermia.The timely investigation to detect genetic abnormality gives better understanding about prognosis to the patientsand helps in providing genetic counseling with early intervention, management and also understanding risksinvolved in transmission of abnormality to future generations.Materials and methods: In present study total 30 male cases of primary infertility clinically diagnosed andconformed by semen analysis as unobstructed azoospermia and oligospermia were selected. Their karyotypeswere prepared and studied for chromosomal abnormalitiesResult: The Numerical chromosomal abnormality was found in 2 (6.66%) cases of azoospermic group in the formof Klinefelter syndrome (47,XXY). In cases of oligospermia 1 (3.34%) case had an abnormality in the form ofRobertsonian translocation involving 1415 chromosome. The total 3 cases (10%) were found to have grosschromosomal abnormality by conventional cytogenetic method.Conclusion: In cases of Klinelfelter syndrome (47,XXY) due to altered karyotype or due to meiotic non-disjunction,the residual gametes may be extracted through Testicular / Epididymal Sperm Aspiration (TESA). It is necessarythat the diagnosis be made as soon as possible, so as to guarantee the cryopreservation of the semen beforecomplete infertility sets in.