Study Of Male Infertility Patients On Sex Chromosome Abnormalities And Y Chromosome Microdeletions

Many reasons can cause male infertility: for example infection factors,endocrine factors, immune factors, and environmental factors. In addition to the abovereasons, genetic factors are also the main cause of male infertility. The main geneticfactors associated with male infertility are sex chromosome abnormalities and Ychromosome microdeletions. Explore the relationship of sex chromosomeabnormalities and Y chromosome polymorphisms with male infertility,through checkup1372cases of male infertility patients with peripheral blood karyotype and Ychromosome microdeletion. Provide the basis for genetic counseling and treatmentfor male infertility.From May2009to September2011,1372cases of male infertility patients（age29±5years),who come to treatment in the Hospital of Jilin University. And33normal fertile men, as the control group (age28±3years). Do G-banding peripheralblood karyotype analysis,multiplex PCR method for detection of Y chromosomemicrodeletions,electrochemical luminescent detection reproductive hormones levels,enzyme-linked immunosorbent to detect INHB level, SPSS17.0software for statisticalanalysis.Recall46, XX male sex reversal syndrome patients detect SRY gene. Andrecall the fathers and brothers of patients who Y chromosome polymorphism. Frompedigree view to study the relation between Y chromosome polymorphism and maleinfertility.The results:1. In1372infertile men,166cases chromosomal abnormalities and43casespolymorphic.166abnormal karyotype including:23autosomal abnormalities,143sexchromosome abnormalities. Sex chromosome abnormalities including:125cases ofKlinefelter syndrome,3cases of mosaicism abnormal number of sex chromosome,6cases of47, XYY syndrome,6cases of Y chromosome structural abnormalities and3cases of46, XX sex reversal.43polymorphic including22cases Y polymorphic. 2. Non-chimeric patients with Klinefelter syndrome121cases,5casesoligozoospermia,17cases occult azoospermia,99cases azoospermia. The statisticalanalysis that only age difference was significant (p <0.05). Serum reproductivehormone, inhibin B and testicular volume showed no significant difference (p>0.05).Only the age of oligozoospermia group is differences compared with the controlgroup no significant (p>0.05), others have significant differences (p <0.05).3.6cases Y chromosome structural abnormalities,4cases Y chromosometranslocation,2cases Y chromosome deletion.3cases Y chromosome translocationwere severe oligozoospermia, the remaining three cases were azoospermic.4.22cases Y chromosome polymorphism,7cases46,XY,qh+,15cases46,XY,qh-. Recall9cases of pedigrees,2cases of pedigrees,7cases of pedigrees.5. Y chromosome microdeletions: in1372cases of male infertility patients,azoospermia640cases; oligozoospermia，asthenospermia or teratozoospermia419cases; Y chromosome microdeletions79cases. Of the79cases,62cases hadazoospermia, it’s9.69%for azoospermia;17cases had oligozoospermia,asthenospermia or teratozoospermia, it’s4.06%for oligozoospermia, asthenospermiaor teratozoospermia.The highest deletion rate is AZFc. The rate is74.68%.The conclusions:1. Patients with Klinefelter syndrome may have sperms. Their sperm productionability and age was negatively.Except for age,of mosaicism Klinefelter syndromepatients sperm production capacity relevant with the proportion of karyotype47,XXY.2. Y chromosome structural abnormalities may lead to azoospermia or severeoligozoospermia,then leading to male infertility.3. Through family investigation, and from vertical inheritance angle analysis, Ychromosome polymorphism and male infertility is no relation.4. The highest incidence is AZFc deletion. Azoospermia and oligozoospermia,asthenospermia or teratozoospermia are higher than that for other causes patients.