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

Bunyan, David J; Saran, Mili; Hobbs, James I; Anderson, David J; Duncan-Flavell, Philippa J; Howarth, Rachel J; Callaway, Jonathan L.A; MacPherson, James N

doi:10.18502/jri.v23i4.10816

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