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Complex Y Chromosome Anomalies in an Infertile Male

Show simple item record Kaluarachchi, N.P. Randunu, M. H. Jainulabdeen, M. Thavarajah, A. Padeniya, P. Galhena, P. 2020-06-29T06:57:54Z 2020-06-29T06:57:54Z 2020
dc.identifier.citation JBRA assisted reproduction.2020. doi: 10.5935/1518-0557.20200022. Online ahead of print. en_US
dc.identifier.issn 1518-0557 (Electronic)
dc.identifier.issn 1517-5693 (Print)
dc.identifier.issn 1517-5693 (Linking)
dc.description Indexed in MEDLINE en_US
dc.description.abstract 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. KEYWORDS: AZF microdeletion; Y chromosome anomalies; azoospermia; male infertility. en_US
dc.language.iso en_US en_US
dc.publisher JBRA assisted reproduction. en_US
dc.subject Y Chromosome en_US
dc.title Complex Y Chromosome Anomalies in an Infertile Male en_US
dc.type Article en_US

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