Molecular Screening for Y Chromosome Microdeletions in Egyptian Infertile Men with Severe Oligozoospermia

Abstract

Background: Male infertility is a multifactorial syndrome. Genetic factors contribute about 10-15% of cases. Among these factors, Y chromosome microdeletions are the second most frequent genetic cause after Klinefelter’s syndrome. Objective: The aim of the study was to detect azoospermia factor (AZF) region microdeletions and their locations on Y chromosome in infertile men with severe oligozoospermia and to correlate these microdeletions with the patient’s semen analysis, hormonal profile and testicular volume. Materials and Methods: In this cross sectional study, 50 infertile severe oligozoospermic patients (<5 million) were included, their ages ranged from 20-50 years. The patients included in this study were selected from Damietta Outpatient Clinic of Dermatology and Andrology Department, Al-Azhar Faculty of Medicine from March, 2014-2016 and were subjected for history, general and local examinations, semen analysis, FSH, LH and testosterone levels and PCR examination. Results: The mean age of studied cases was 34.26 years with mean duration of infertility 8.16 years. Normal FSH, LH and testosterone was found in 74,96 and 88%, respectively. The AZF deletion was reported in 4 cases. Regarding relation to studied hormones and testicular size, there was significant association between AZF deletion with both FSH (p = 0.02) and LH (p = 0.025), while there was no significant association with testosterone (p = 0.44) or testicular size (p=0.12). Conclusion: Microdeletions of the Y chromosome in the study were 8%among severe oligozoospermic males. There was no statistically significant relation between testicular size, semen volume, testosterone and LH with the Y chromosome microdeletions. The detection of a deletion in an infertile man provides a proper diagnosis of the disease, allow the clinician to avoid empirical, unnecessary or often expensive treatments to improve fertility. A molecular diagnostic test of Y chromosome microdeletions should be at least performed in all men with a sperm concentration of <5× 106 mL–1regardless of the presence of other apparent concomitant cause of testicular damage.