Abstract
To determine the frequency of genetic alterations in a population of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia. Retrospective study of a group of 143 infertile men with severe oligozoospermia or non-obstructive azoospermia from the Andrology Outpatient Clinic of the Human Reproduction Service at the ABC School of Medicine. Of these patients, 100 had severe oligozoospermia, and 43 non-obstructive azoospermia. All patients underwent a genetic study which included karyotype analysis and Y-microdeletion investigation. Genetic abnormalities were found in 18.8% of the studied patients. Chromosomal abnormalities were found in 6.2% of the patients, being more prevalent in the azoospermia group (11.6%) than in the oligozoospermia group (4%). Chromosomal variants were found in 8.3%, and Y-chromosome microdeletions in 4.2% of patients. The high frequency of genetic alterations (18.8%) in our series justified performing a genetic investigation in a population with idiopathic infertility, as results may help determine the prognosis, as well as the choice of an assisted reproduction technique. Moreover, a genetic investigation could minimize the risk of transmitting genetic abnormalities to future generations such as genetic male infertility, mental retardation, genital ambiguity and/or birth defects.
Highlights
Infertility is a very common health problem, affecting approximately 15-20% of couples who attempt pregnancy
Routine clinical and laboratory tests were performed on all patients, including semen analysis, karyotype analysis and investigation of Y chromosome microdeletions
Chromosomal variants or polymorphisms were found in 8.3% of all cases (Table-3)
Summary
Infertility is a very common health problem, affecting approximately 15-20% of couples who attempt pregnancy. In almost 50% of infertile couples, the problem is related to the male. About 15% of infertile men may carry a genetic abnormality, including chromosomal aberrations and single-gene mutations [1,2]. The frequency of chromosomal aberrations in subfertile males is estimated to be 2-3%, and in infertile patients with sperm counts below 10 x 106 spermatozoa/mL may reach 5-7%; among patients with azoospermia, the percentage of individuals with cytogenetic abnormalities increases by 10-15% [1,2]. Among the genetic abnormalities found in infertile men, those involving chromosome anomalies amount to about 8%, the most frequent one being the 47,XXY karyotype that characterizes the Klinefelter Syndrome [1]. It is worth mentioning that, in the general population, Robertsonian and reciprocal translocations are present in 1/1000 and 0.9/1000 newborns, respectively, the incidence in the infertile male population is nine and seven times higher, respectively [1]
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