Genetic investigations on causes of male infertility in Western Saudi Arabia

Abstract

In recent years, genetic studies have yielded great progress in elucidating causes of male infertility. This investigation aims to identify frequent genetic abnormalities, that is, sex chromosome aneuploidies and Y‐chromosome microdeletions among infertile men in Western Saudi Arabia. From a population of infertile patients, 88 male patients with either azoospermia or severe oligozoospermia (sperm concentration <5 million/ml) were selected. In addition to a thorough clinical workup, karyotypes and Y‐chromosomal microdeletions were investigated. Among those 88 infertile patients, we detected six patients with Klinefelter syndrome, two with 47 XYY syndrome and two with Y‐chromosome microdeletions AZFb,c. While the prevalence of sex chromosome aneuploidies was in the range of globally investigated populations, the microdeletions appeared to be less frequent in Western Saudi Arabia compared to other regions of the world. All genetically abnormal cases showed sperm concentration <1 million/ml, and hence, this appears to be the threshold for warranting genetic investigations in Western Saudi Arabia. Since Klinefelter and 47 XYY syndromes were only discovered late in life, upon an infertility investigation, sex chromosome aneuploidies due to their many‐fold comorbidities require earlier medical attention. A neonatal screening programme is suggested for detection of these aneuploidies in Saudi Arabia for the general health benefit of these patients.

Prevalence of Y-chromosomal microdeletions and karyotype abnormalities in a cohort of Lebanese infertile men

“…In a study among Saudi infertile men with severe oligozoospermia or azoospermia, there were 49 out of 76 patients with complete semen analysis who had azoospermia and 27 had sperm concentrations between 0.1 and 5.0 million/ml. [ 1 ] Testicular biopsy was done after testicular sperm extraction in 25 patients and 1 had seminoma. Genetic abnormalities pertinent to fertility were seen in 11 patients (complete semen data available for nine patients).…”

“…Male infertility is a crucial concern for the couple, families, and society. [ 1 ] Men with infertility are prone to exhibit psychological issues due to stigma, causing divorce, remarriage, and resorting to alternative medicine that may carry dire consequences. [ 1 ] Infertility is referred to as the incapability of conceiving after a year of engaging in unprotected intercourse.…”

“…[ 1 ] Men with infertility are prone to exhibit psychological issues due to stigma, causing divorce, remarriage, and resorting to alternative medicine that may carry dire consequences. [ 1 ] Infertility is referred to as the incapability of conceiving after a year of engaging in unprotected intercourse. [ 2 ] Male infertility is caused by numerous elements such as endocrine disorders, infection, varicose veins, spermatic duct obstruction, presence of antisperm antibodies, cryptorchidism, retrograde ejaculation, systemic diseases, testicular trauma and testicular cancer, and other factors.…”

“…[ 6 ] Comprehensive and rational treatment is absent in most idiopathic cases. [ 1 ] There is dearth of studies about the occurrence and the reasons of male infertility. There is scarce information about the prevalence of Y-chromosome microdeletion and other genetic causes of infertility in the Lebanese population.…”

Monoamniotic twin pregnancy following the transfer of a single blastocyst resulting from intracytoplasmic sperm injection of a single oocyte: a case report

“…In our case report, three chromosomes were analyzed (X, Y and 21) to primarily avoid the transfer of an embryo with trisomy of chromosome 21, and other syndromes associated with sex chromosomes. Klinefelter's syndrome is an example of a disorder involving sex chromosomes, with a prevalence of one in 500 males, in which one extra X chromosome is included in the male karyotype, therefore invariably resulting in infertility if a viable offspring is born (Visootsak and Graham Jr, 2006;Beg et al, 2019). Another example is Turner's syndrome, which is due to a total or partial loss of one of the X chromosomes and is associated with short stature and primary ovarian insufficiency and infertility.…”