RESUMO
Objective To study the relationship between Y chromosome abnormalities and AZF microdeletions in males with reproductive failure.Methods A case-control study was conducted in 2694 reproductive failure men with age ranges from 23 to 49 years old from the Institute of Reproductive Medicine of Jilin Province.Patients were divided into three groups:spermatogenic failure group (n =1332),disadvantage pregnancy outcomes group (n =994) and adverse birth outcomes group.All patients underwent chromosomal karyotype analysis (G-banding).AZF microdeletions were further investigated in patients with Y chromosomal abnormalities by PCR.The Chi-square test was used to compare the frequency of Y chromosome abnormalities in three groups.Results Of the 51 cases of Y chromosome abnormalities (1.89％,51/2694),32 were (2.40％,32/1332) in the spermatogenic failure group,15 were (1.51％,15/994) in disadvantage pregnancy outcomes group and 4 were (1.09％,4/368) in adverse birth outcomes group.There was no significant difference in Y chromosome abnormalities among different groups (x2 =3.895,P ＞0.05).AZF microdeletions were detected in 10 cases (19.61％,10/51) of Y chromosome abnormalities patients with spermatogenic failure.Conclusions The incidence of Y chromosomal abnormalities in three reproductive failure groups is similar.Chromosome karyotype analysis and AZF microdeletions examination could identify the genetics etiology in males with reproductive failure.
RESUMO
Objective To describe different types of chromosomal abnormalities on male infertility.Methods From May 2006 to May 2012,2034 infertile males with genetic counseling underwent chromosome karyotype analysis,semen routine examination and reproductive hormones levels detection.The data from them were analyzed.Results 267 cases of chromosomal abnormalities were detected in 2034 cases (13.13％).258 cases underwent semen routine examination in 267 cases with chromosomal abnormalities,of which 190 cases of azoospermia,58 cases of oligozoospermia,10 cases of semen normal.In 267 cases of chromosomal abnormalities,including 169 cases (63.30％) of number abnormalities,mainly with azoospermia,157 cases of Klinefelter syndrome (KS) (58.80％),7 cases of 47,XYY (2.62％),4 cases of Turner syndrome (1.50％),1 case of marker chromosome (0.37％) ; 49 cases (18.35％) of structural abnormalities mainly with oligozoospermia,including 32 cases of chromosomal translocations (11.99％),17 cases of inversion (6.37％) ; 4 cases of sex reversal (1.50％) with azoospermia; 45 cases of chromosome polymorphism (16.85％) mainly with oligozoospermia.Non-mosaicism KS patients' age,testicular volume,semen volume,and serum reproductive hormones levels were compared between different groups of semen results,and there were no significant difference except age.Conclusions Chromosome abnormalities were the most important genetic causes of abnormal semen quality and male infertility.It is necessary to be performed chromosome karyotype analysis for infertile males.