Prevalencia de cariotipos patológicos en varones infértiles extremeños

Abstract

Introduction Sterility is defined as a problem of a couple, even if the pathology is demonstrated in only one of the members. It affects approximately 15% of them, 40% of which would be caused by the male, 40% by the female and 40% for mixed reasons. The study of the karyotypes is performed in all the males who have severe azoospermia or oligozoospermia (less than 5 million espermatozoids/ml). Genetic factors are responsible for approximately 10% of the causes of masculine infertility. Objective a) To realize a prospective study of cohorts to know the prevalence of pathological karyotypes in infertile Extremaduran males, and discover the most frequent pathology; b) To study if there are statistically significant differences in the bilateral testicular size, seminal parameters and hormone plasma levels in patients with pathological karyotypes versus the remaining study patients in regards to the idiopathic group, and c) To justify if genetic studies should be performed in patients with azoospermia or oligozoospermia in whom there is a diagnosis that explains the infertility. Material and methods 107 infertile male patients were studied over a 5-year period. All the patients presented includes had to fulfill the criterion of secretory azoospermia or severe oligozoospermia (less than 5 million espermatozoides/ml) for the keryotype study. The study was conducted in both patients with known groups of etiology (background of undescended testicle, diagnosis of varicocele) and idiopathy groups. Results 3.1% of the patients studied for secretory azoospermia and severe oligozoospermia had pathological karyotypes, the most frequent pathology within these corresponding to pure or non-mosaic Klinefelter (1.86%). Patients with pathological keryotype showed a statistically significant difference in the left and right testicular size compared to the rest of the patients and idiopathic group and for the FSH and LH values in comparison to the remaining patients and also to the idiopathic group. The diagnosis of non-genetic pathologies that justify male infertility does not exclude the study of the karyotype since non-genetic and genetic pathologies can coexist and thus vary the prognosis. Discussion This study presents the prevalence of pathological karyotypes in Extremaduran infertile males studied in the Extremaduran Center of Human Assisted Reproduction. The differences obtained in bilateral testicular size and in FSH and LH levels are attributable to this genetic alteration.