Familial Y chromosome microdeletion with pericentric inversion of chromosome 19 / 中华男科学杂志

Objective@#To investigate the familial cytomolecular genetics of an infertile male.@*METHODS@#We analyzed the clinical phenotypes and karyotypes of three males from the family of an infertile man, detected the sequence-tagged sites (STS) in the AZF deletions of the Y chromosome by multiplex polymerase chain reaction (PCR), and identified the target genes by multiplex ligation-dependent probe amplification (MLPA).@*RESULTS@#The karyotypes of the proband and his brother were 46, XY, inv (19) (p13.3q13.1) and that of his father was 46, XY. The three males were all carriers of AZFc deletion of the Y chromosome, and all found with the same reduction of the gene copy number in the AZFb and AZFc regions.@*CONCLUSIONS@#Combined use of karyotype analysis, Y chromosome STS PCR, and MLPA revealed the genetic causes of the male infertile family.

RELATIONSHIP BETWEEN Y CHROMOSOME MICRODELETION AND SEXUAL HORMONES IN INFERTILE MALE PATIENTS / Шинэ санаа Шинэ нээлт

@#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.

Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia / 亚洲男科学杂志(英文版)

The aim of the present work was to present the outcomes of the patients with Y-chromosome microdeletions treated by intracytoplasmic sperm injection (ICSI), either using fresh (TESE) or frozen-thawed (TESE-C) testicular sperm and ejaculated sperm (EJAC). The originality of this work resides in the comparisons between the different types of Y-microdeletions (AZFa, AZFb, and AZFc) and treatments, with detailed demographic, stimulation, embryological, clinical, and newborn (NB) outcomes. Of 125 patients with Y-microdeletions, 33 patients presented severe oligozoospermia (18 performed ICSI with ejaculated sperm) and 92 secretory azoospermia (65 went for TESE with 40 having successful sperm retrieval and performed ICSI). There were 51 TESE treatment cycles and 43 TESE-C treatment cycles, with a birth of 19 NB (2 in AZFa/TESE-C, 12 in AZFc/TESE, and 5 in AZFc/TESE-C). Of the 29 EJAC cycles, there was a birth of 8 NB (in AZFc). In TESE and EJAC cycles, there were no significant differences in embryological and clinical parameters. In TESE-C cycles, there was a significant lower oocyte maturity rate, embryo cleavage rate and mean number of embryos transferred in AZFb, and a higher mean number of oocytes and lower fertilization rate in AZFc. In conclusion, although patients with AZFc microdeletions presented a high testicular sperm recovery rate and acceptable clinical outcomes, cases with AZFa and AZFb microdeletions presented a poor prognosis. Due to the reported heredity of microdeletions, patients should be informed about the infertile consequences on NB and the possibility of using preimplantation genetic diagnosis for female sex selection.

Differences and similarities between extremely severe oligozoospermia and cryptozoospermia in intracytoplasmic sperm injection / 亚洲男科学杂志(英文版)

Patients with extremely severe oligozoospermia (ESO) and cryptozoospermia (CO) are suitable using intracytoplasmic sperm injection (ICSI) as an infertility treatment. However, some andrologists are confused to distinguish ESO and CO in clinic diagnose. This study was designed for the first time to evaluate and compare patients with ESO and CO to determine whether these are useful clinical distinctions. A total of 270 infertile men in our center were classified into four groups as Group nonobstruction azoospermia (NOA, n = 44), Group ESO (n = 78), Group CO (n = 40), and Group obstruction azoospermia (OA, n = 108). Comparisons of the volume of bilateral testes, the level of follicle stimulating hormone (FSH) and inhibin B were obtained in four groups. Then comparisons of fertilization rates, cleavage rate, and excellent embryos rate were obtained when couples performed ICSI. All indexes (volume of bilateral testis, level of FSH and inhibin B) in Groups ESO and CO were no difference, while Groups OA versus NOA, OA versus ESO, and OA versus CO were significant differences (P < 0.05). The rates of fertilization were no differences in Groups ESO and CO while Groups OA versus ESO, OA versus CO were significant differences (P < 0.05). Therefore, the spermatogenic functions in patients with CO and ESO were similar, better than NOA but worse than OA. However, it would be helpful to evaluate their spermatogenesis using testicular biopsies, especially accompanied azoospermia in clinical practice.