Analysis of chromosome in 1 324 patients with oligozoospermia or azoosperm / 北京大学学报(医学版)

OBJECTIVE@#To explore the incidience of chromosome abnormality of the patients with oligozoospermia or azoospermia and male infertility, to discuss the relationship between the quantitative and structural abnormality of chromosome and to lay the foundation for the clinical diagnosis and consultation.@*METHODS@#A retrospective analysis was conducted from January 1, 2015 to May 1, 2016, in the Center for Reproduction Medicine, the Second Hospital of Jilin University, with male reproductive abnormalities history excluded. In the study, 1 324 cases were included with 448 cases of azoospermia and 876 cases of oligozoospermia. All the patients through ultrasound examination, color Doppler ultrasonography, the seminal plasma Zn determination, their hormone level determination, chromosome karyotype (the perinatal blood samples were obtained from the 1 324 patients with oligozoospermia or azoospermia for lymphocyte culture, then chromosomal specimens were prepared, G-banding analyses combined with clinical data were used to statistically analyze the incidence of chromosomal abnormality), Y chromosome azoospermia factor [PCR technique was used to detect SY157 locus, SY254 locus, and SY255 locus in male Y chromosome azoospermia factor (AZF) gene of the patients with oligozoospermia or azoospermia]. The relationship between chromosome abnormalities and oligozoospermia or azoospermia were analyzed.@*RESULTS@#Among the 876 cases of oligospermia patients, 78 cases were chromosome number abnormality and chromosomal structural abnormality, the abnormal number of sex chromosomes in 22 cases, and sex chromosomes and chromosome structural abnormalities in 56 cases; in the 448 cases of azoospermia patients, 91 cases were chromosomal structural abnormality and chromosome number abnormality, of them, 78 cases were of abnormal number of sex chromosomes, and 13 cases were of abnormal structure. In addition, 137 cases were of chromosome polymorphism in all the 1 324 patients, The incidence of Y chromosome abnormality in azoospermatism was higher than that of the 43 patients with Y chromosome AZF microdeletion. In addition, the asthenospermia and recurrent spontaneous abortion were closely related to Y chromosome abnormality and the chromosome translocations and inversions.@*CONCLUSION@#Oligozoospermia and azoospermia patients with abnormal chromosome karyotype have high incidence rate, and chromosome karyotype analyses were carried out on it, which is conducive to clinical diagnosis for the patients with abnormal chromosome karyotype. There is a close relationship between male infertility and abnormal karyotype. It is conducive to clinical diagnosis for the patients with infertility through chromosome karyotye analysis, which also provides evidence for genetic counseling.

A complex chromosome translocation with male infertility of karyotype analysis and literature review / 北京大学学报(医学版)

One case of family chromosomal karyotype with complex chromosomal translocation and male infertility was reported. This case is a male, 30 years old, Han nationality, who did not receive contraception for 3 years after marriage. The phenotype and intelligence of the patients were normal, and there were no abnormalities in the external genitalia. No abnormalities were found in the prostate and spermatic vein. There was no history of parotitis or testicular trauma, no history of smoking, drinking history, denial of harmful substances and history of radioactive contact. There were no similar patients in the family, and the secondary sex was normal. The routine semen examination suggested that the active sperm was seldom seen. There were no obvious abnormalities in the serum endocrine examination of the patient. Cytogenetic examination: the patient's karyotype 46XY, t (10; 18; 21) (q22; p11.2; q11.2). There was no deletion in locus sY84, sY86, sY127, sY134, sY143, sY254 and sY255. His wife's examination showed no obvious abnormality, and her karyotype was normal. The parents of the patients were not close relatives. Their father's chromosome karyotype analysis was 46, XY, and Y chromosome microdeletion was normal. The chromosome karyotype of the parent was 46XX, t (10; 18; 21), and the parents of the patient also had a daughter, whose phenotype and intellectual development were normal, chromosome karyotype 46XX, t (10; 18; 21). In this case, the patient's balance translocation should be inherited by the mother. Because of the normal phenotype of the patient, there was no loss of genetic material, but the abnormal chromosomes might be passed to the offspring, and the proportion of the unbalanced gametes was very high. Through systematic review and review of the cases, it was concluded that the balanced translocation carriers only changed the relative position of the translocation segments on the chromosomes, retained the total number of the original genes, only changed the relative position of the genes on the chromosomes, and had no serious effect on the role of the gene and the development of the individual. The phenotype was normal. The patients were given symptomatic treatment to improve semen quality. It is recommended that pre-implantation genetic screening/diagnosis(PGS/PGD) be performed if necessary. It is to guide married men and women to choose the appropriate childbearing age, avoid unhealthy environmental contacts, and strengthen genetic screening before and after pregnancy, so as to achieve the goal of eugenics.