Complex Y chromosome anomalies in an infertile male

Abstract

Y chromosome anomalies are closely associated with non-obstructive azoospermia (NOA), a major etiology in male infertility. Klinefelter syndrome (KS) and Y chromosome microdeletions are some of the well-identified genetic defects in this regard, while Y chromosome aneuploidies have been reported to be susceptive. We report the rare case of a patient presenting with three complex genetic defects: mosaic Y chromosome aneuploidy; loss of the heterochromatin region in the q arm of the Y chromosome (Yqh-); and azoospermia factor C subregion (AZFc) microdeletion. The patient reported he had been subfertile for five years. Semen analysis confirmed total azoospermia along with an unaffected hormonal profile for serum follicle stimulating hormone (FSH), luteinizing hormone (LH), and prolactin levels. Since the microdeletion analysis of azoospermia factor (AZF) region revealed the presence of three microdeletions in the AZFc region, the patient was offered intracytoplasmic sperm injection (ICSI) upon the retrieval of sperm by testicular sperm extraction (TESE) as the best possible assisted reproductive treatment (ART) option. It was further suggested to carry out pre-implantation genetic screening (PGS) in order to facilitate the transfer of only female embryos, thus preventing the dissemination of Y chromosomal anomalies.

Chromosome 17 translocation affects sperm morphology: Two case studies and literature review

“…Male infertility is a growing health concern and estimated to affect 1 in 20 men (Netherton et al, 2020). Although multifactorial, male infertility has a strong genetic basis, with Y chromosomal aberrations and microdeletions being the primary genetic cause of male infertility (Kaluarachchi et al, 2020). Nevertheless, routine screening for these recognized genetic causes do not always identify cases of male infertility, suggesting that multiple genes or functional networks may be involved, rather than simply the Y chromosome or single gene.…”