Résumé
@#BACKGROUND. In the world, infertility occurs in 10-15% of the total couples and male infertility accounts for 40-50% of the infertile cases. Infertility frequency in Mongolia is 8.7% in 2003 and 11.6% in 2013. According to the Child and Maternity hospital study, 25.6% of infertility is due to men. Microdeletions of the Y chromosome long arm are the most common molecular genetic causes of severe infertility in men. They affect three regions including azoospermia factors (AZFa, AZFb and AZFc), which contain various genes involved in spermatogenesis. OBJECTIVES. The aim of the present study is to investigate the relationship between sexual hormones and AZF microdeletion on Y chromosome in Mongolian infertile men with azoospermia and severe oligozoospermia. MATERIAL AND METHODS. Through a cross sectional study, 50 infertile men were examined for Y chromosome microdeletions from January 2018 to August 2018. We determined hormone level, testis biopsy and microdeletions of the Y chromosome using six loci of 3 regions of the AZF gene were investigated by multiplex polymerase chain reaction. Semen analysis was performed on samples obtained by self-masturbation at the hospital after 2-7 days of sexual abstinence. Reproductive hormone level in serum including total testosterone, follicular stimulating hormone (FSH), and LH is measured at time 8 am to 11 am. If sperm is not recovered, testicular biopsy was performed on the patient. All collected datas were evaluated with Statistical Package for Social Sciences (SPSS, version 22.0). RESULTS. The rate of microdeletion was 4.0% (2 out of 50 patients). The deletion was on AZFa in the first patient, AZFc in the second patient. The patients with Y chromosome microdeletion had azoospermia. AZFa deleted patient has sertoli cell only syndrome in testis biopsy with FSH 58.0 mIU/ml, LH 12.0 mIU/ml, total testosterone 5.0 ng/ml. AZFc deleted patient had FSH 23.85 mIU/ml, LH 13.01 mIU/ml, total testosterone 4.06 ng/ml. Serum FSH and LH levels were significantly higher in Y chromosome deleted group and FSH level was significantly lower in sperm-retrieved group on TESE. СONCLUSION. We determined 2 cases of Y chromosome microdeletion (4.0%) in infertile men. Serum FSH and LH levels were significantly higher in Y chromosome deleted group.