The Role of Chromosome Analysis in Male and Female Infertility

Abstract

Objective: Infertility is defined as absence of a healthy baby or pregnancy despite a one-year regular unprotected sexual intercourse. While primary infertility is called the absence of pregnancy at all, secondary infertility is called inability of couples who have had at least one healthy child to become pregnant. Chromosome anomalies are an important cause of both male and female infertility. In this study, we aimed to discuss the results of chromosome analysis of couples with primary infertility. Material and Methods: A total of 535 people, 262 women and 273 spouses with primary infertility, were included in the study. Chromosome analysis was performed using standard cytogenetic GTG banding technique using peripheral blood lymphocytes.Results: Normal chromosome establishment was detected in 513 people, 46,XX in 254 people, 46,XY in 259 people (95.8%). Eight patients had a normal chromosome variant (1.4%). In addition, translocation was detected in 5 patients (0.8%); in 4 patients, balanced reciprocal translocation and in 1 patient, Robertsonian translocation. Klinefelter syndrome was detected in 3 patients (1% of male infertility). In addition, we detected Turner syndrome variants, mos 45,X[11]/46,XX,i (X)(q10)[29] and mos 45,X[10]/46,X,i(X)(q10)[10] (0.7% of female infertility) in two cases. If normal chromosome variants are excluded, the frequency of the remaining changes in the patient population is 2.6%. Conclusion: Structural chromosomal anomalies such as balanced reciprocal and Robertsonian translocations cause both female and male infertility. 47,XXY should be kept in mind for male infertility and 45,X/46,X,i(X)(q10) Turner chromosome variants should be kept in mind in female infertility. In summary, chromosome analysis is one of the important tests that should be done to explain the etiology of both male and female infertility.