Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility

Authors
David J Bunyan 1
Mili Saran 2
James I Hobbs 3
David J Anderson 3
Philippa J Duncan-Flavell 3
Rachel J Howarth 3
Jonathan L.A Callaway 1
James N MacPherson 1
1 School of Medicine, University of Southampton, Southampton, UK; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
2 Complete Fertility Limited, Princess Anne Hospital, Southampton, UK
3 Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
10.18502/jri.v23i4.10816
Abstract
Background: Approximately 1 in 1000 men have a 47,XYY karyotype. Previous publications have presented cases of infertile XYY men and have suggested that the additional Y chromosome may cause disrupted meiosis leading to sperm apoptosis. The purpose of the current study was to determine whether XYY men are over-represented in infertility cohorts. Methods: In this paper, an ongoing infertility cohort was evaluated for Y chromosome microdeletions using the MLPA technique and the data from the first 2000 referrals were recorded. Moreover, the MLPA technique detected 47,XYY karyotypes. Results: Four XYY individuals were identified within the cohort. One of the four XYY men was shown to have an apparent gr/gr partial AZFc deletion on both Y chromosomes while Sertoli cell only syndrome was detected in another case. The other two cases (out of 2000) might, therefore, represent an incidental finding. Conclusion: The gr/gr deletion is not detectable by the multiplex PCR method; therefore, there might be additional explanations for the fertility problems of infertile XYY men reported in previously published jri_articles. It seems that among other cases, their XYY karyotype may be coincidental, rather than causative of their fertility issues.
Keywords
Azoospermia
Chromosomal deletion
Infertility
Men
Sex chromosome disorders
XYY karyotype
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Journal of Reproduction & Infertility
Volume 23, Issue 4
Autumn 2022
Pages 296-302