Sreejith Pongillyathundiyil Sasidharan1, Sheila Balakrishnan2, Krishna Govindan3, K.R. Chandramohanan Nair4
BACKGROUND
Infertility is the inability to become a parent of a child even after one year of
intercourse involving male and female partner without any contraceptives. There
are many causes for infertility, Y chromosome microdeletion is one among that.
Partial or complete deletion of the proximal Yq region, which contains azoospermic
factor (AZF) locus, leads to infertility. Along with genetic and biochemical factors
the ethno-geographical reasons also play an important role in infertility. The
present study was done to identify the association of genetic and hormonal factors
in the development of infertility in azoospermic males of southern Kerala.
METHODS
Retrospectively screened the medical records of 2100 infertile males of the
Department of Reproductive Medicine of Sree Avittom Tirunal Hospital,
Government Medical College, Thiruvananthapuram for a period from January 2017
to December 2019. Stringent inclusion criterias were taken to select patients for
the molecular study and finally 46 were selected. Structural and numerical
chromosome abnormalities were detected using karyotyping and microdeletion
was identified using polymerase chain reaction. Electro-chemiluminescence
immunoassay method was used for the quantification of reproductive hormones.
Demographic data of selected patients were collected from the medical records.
RESULTS
The cytogenetic results showed that among the selected patients, 10.86 % had
Klinefelter syndrome and one person had De la Chapelle syndrome. Partial
microdeletion in AZFa, b or c regions have been observed in 13.63 % of the
patients. The hormonal analysis showed significant change in concentration of
reproductive hormones irrespective of genetic defects. Demographic data showed
that the majority of participated patients are unskilled/skilled laborers,
economically poor and are from urban areas.
CONCLUSIONS
The study concludes that among the selected patients, 24.49 % have clinically
significant chromosomal abnormalities like Klinefelter syndrome, De la Chappelle
syndrome and partial microdeletion on the AZF region. Irrespective of genetic
defects, significant changes in the concentration of reproductive hormones are
also observed.
