en |
Y chromosome microdeletion and cytogenetic findings in male infertility: A cross-sectional descriptive study
Arumugam, Meenakshi; Shetty, Deyyanthody Prashanth; Kadandale, Jayarama Shanker & Kumari, Suchetha Nalilu
Abstract
Background: Infertility affects about 15% of couples worldwide, and the male factor
alone is responsible for approximately 50% of the cases. Genetic factors have been
found to play important roles in the etiology of azoospermia and severe oligospermia
conditions that affect 30% of individuals seeking treatment at infertility clinics.
Objective: To determine the frequency of chromosomal abnormalities and Y
chromosome microdeletion in infertile men.
Materials and Methods: A total of 100 infertile men with abnormal semen parameters
were included in this study from 2014 to 2018. Chromosomal analysis was carried out
using standard G-banding using Trypsin Giemsa protocol. Multiplex polymerase chain
reaction was used to determine the Y microdeletion frequency.
Results: All participants were aged between 22 and 48 yr with a mean and
standard deviation of 35.5 ± 5.1. Of the 100 subjects included in the study,
three had Klinefelter syndrome-47,XXY, one had balanced carrier translocation-
46,XY,t(2;7)(q21;p12), one with the balanced carrier translocation with inversion
of Y chromosome 45,XY,der(13;14)(q10;q10),inv(Y), one had polymorphic variant of
chromosome 15, one had Yqh-, and another had an inversion of chromosome 9. Y
chromosome microdeletion of Azoospermia factor c region was observed in 2% of the
cases. To the best of our knowledge, the current study is the first reported case with
unique, balanced carrier translocation of chromosome 2q21 and 7p21.
Conclusion: The present study emphasizes the importance of routine cytogenetic
screening and Y microdeletion assessment for infertile men, which can provide specific
and better treatment options before undergoing assisted reproductive technology
during genetic counseling.
Keywords
Chromosome aberrations; Infertility; Chromosome deletion; Polymerase chain reaction; Sequence tagged sites.
|