Prevalence of chromosomal abnormalities and Y chromosome microdeletion among men with severe semen abnormalities and its correlation with successful sperm retrieval

Abstract

AIM:To estimate the prevalence of chromosomal abnormalities and Y chromosome microdeletion among men with azoospermia and severe oligozoospermia and its correlation with successful surgical sperm retrieval.SETTING AND DESIGN:A prospective study in a tertiary level infertility unit.MATERIALS AND METHODS:In a prospective observation study, men with azoospermia and severe oligozoospermia (concentration <5 million/ml) attending the infertility center underwent genetic screening. Peripheral blood karyotype was done by Giemsa banding. Y chromosome microdeletion study was performed by a multiplex polymerase chain reaction.RESULTS:The study group consisted of 220 men, 133 of whom had azoospermia and 87 had severe oligozoospermia. Overall, 21/220 (9.5%) men had chromosomal abnormalities and 13/220 (5.9%) men had Y chromosome microdeletions. Chromosomal abnormalities were seen in 14.3% (19/133) of azoospermic men and Y chromosome microdeletions in 8.3% (11/133). Of the 87 men with severe oligozoospermia, chromosomal abnormalities and Y chromosome microdeletions were each seen in 2.3% (2/87). Testicular sperm aspiration was done in 13 men and was successful in only one, who had a deletion of azoospermia factor c.CONCLUSIONS:Our study found a fairly high prevalence of genetic abnormality in men with severe semen abnormalities and a correlation of genetic abnormalities with surgical sperm retrieval outcomes. These findings support the need for genetic screening of these men prior to embarking on surgical sperm retrieval and assisted reproductive technology intracytoplasmic sperm injection.

Nonmosaic Isodicentric Y Chromosome: A Rare Cause of Azoospermia— From Genetics to Clinical Practice

“…Furthermore, both Mascarenhas et al and Takeda et al performed a testicular sperm extraction (TESE) and micro-TESE, respectively, in a nonmosaic idic(Y)(q) male without success, meaning there were no spermatozoa retrieved [ 6 , 7 ]. All these data show the poor prognosis of fertility in patients with nonmosaic idic(Y)(q).…”

“…Two-thirds of chromosomal abnormalities in infertile men are caused by the well-known numerical disorder Klinefelter syndrome (47,XXY) [ 4 , 5 ]. Furthermore, microdeletions of the azoospermia factor region ( AZF gene) on the Y chromosome are another important type of genetic aberration that can be found in approximately 10% of nonobstructive azoospermic males [ 6 ]. These microdeletions are divided into deletions of AZFa, AZFb, and AZFc or combined deletions and can be detected using polymerase chain reaction (PCR) techniques.…”

“…These microdeletions are divided into deletions of AZFa, AZFb, and AZFc or combined deletions and can be detected using polymerase chain reaction (PCR) techniques. The clinical consequences are determined by the site and length of the deletion [ 6 ].…”

“…Isochromosome Y (iso(Y)) and isodicentric chromosome Y (idic(Y)) are structural Y chromosome aberrations that are associated with male infertility and nonobstructive azoospermia [ 6 – 10 ]. An idic(Y) is formed due to an aberrant homologous crossing over between opposite arms of a palindrome during spermatogenesis.…”

Molecular microdeletion analysis of infertile men with karyotypic Y chromosome abnormalities

“…Numerical and structural chromosomal abnormalities are other important genetic factors associated with male infertility that can be detected cytogenetically. 2 , 5 Guidelines from the American Urological Association and European Academy of Andrology recommend cytogenetic analysis in all men with a total motile sperm count <5 million, and who are thought to have non-obstructive azoospermia; 6 however, Y chromosome microdeletions cannot be detected cytogenetically. Although intracytoplasmic sperm injection (ICSI) enables infertile men with Y chromosome microdeletions to become fathers, the potential risks of infertility being transmitted from infertile fathers to their offspring should be considered.…”