Nirmani Kaluarachchi, Malshani Randunu, Munshifa Jainulabdeen, Aunthusha Thavarajah, Padmapani Padeniya, Prasanna Galhena
JBRA Assist. Reprod. 2020; 24 (4):510-512
Received October 10, 2019
Accepted April 10, 2020
Abstract
Y chromosome anomalies are closely associated with non-obstructive azoospermia (NOA); one of the major etiologies in male infertility. Klinefelter syndrome (KS), and Y chromosomal microdeletions are some of the well identified genetic defects in this regard while Y chromosomal aneuploidies have been reported to be susceptive. We report of a rare case who presented with three complex genetic defects; mosaic Y chromosome aneuploidy, loss of heretochromatin region in q arm of Y chromosome (Yqh-) and azoospermia factor region c (AZF-c) microdeletion, with a primary complain of subfertility for five years. His semen analysis confirmed total azoospermia along with unaffected hormonal profile; 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 at AZFc region, patient was offered with intracytoplasmic sperm injection (ICSI) upon the retrieval of sperms 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 replace only female embryo, thus preventing the transmission of Y chromosomal microdeletion.
