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An analysis of the frequency of Y‐chromosome microdeletions and the determination of a threshold sperm concentration for genetic testing in infertile men

BJU international, 2019-02, Vol.123 (2), p.367-372 [Peer Reviewed Journal]

2018 The Authors BJU International © 2018 BJU International Published by John Wiley & Sons Ltd ;2018 The Authors BJU International © 2018 BJU International Published by John Wiley & Sons Ltd. ;BJUI © 2019 BJU International ;ISSN: 1464-4096 ;EISSN: 1464-410X ;DOI: 10.1111/bju.14521 ;PMID: 30113756

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  • Title:
    An analysis of the frequency of Y‐chromosome microdeletions and the determination of a threshold sperm concentration for genetic testing in infertile men
  • Author: Johnson, Mark ; Raheem, Amr ; De Luca, Francesco ; Hallerstrom, Marcus ; Zainal, Yasmeen ; Poselay, Sameer ; Mohammadi, Baharak ; Moubasher, Amr ; Johnson, Thomas Frederick ; Muneer, Asif ; Sangster, Philippa ; Ralph, David J.
  • Subjects: Azoospermia factor ; Chromosomes ; Cost control ; Genetic screening ; Infertility ; male infertility ; microdissection testicular sperm extraction ; Semen ; Sperm ; Testes ; Testosterone ; Y Chromosomes ; Y microdeletions ; Y‐chromosome microdeletions
  • Is Part Of: BJU international, 2019-02, Vol.123 (2), p.367-372
  • Description: Objective To describe the prevalence of Y‐chromosome microdeletions in a multi‐ethnic urban population in London, UK. To also determine predictive factors and a clinical threshold for genetic testing in men with Y chromosome microdeletions. Patients and Methods A retrospective cohort study of 1473 men that were referred to a tertiary Andrology centre with male factor infertility between July 2004 and December 2016. All had a genetic evaluation, hormonal profile and 2 abnormal semen analyses. Those with abnormal examination findings also had targeted imaging performed. Results The prevalence of microdeletions was 4% (n = 58) in this study. These microdeletions were partitioned into the following regions: Azoospermia factors (AZF); AZFc (75%), AZFb+c (13.8%), AZFb (6.9%), AZFa (1.7%), and partial AZFa (1.7%). A high follicle‐stimulating hormone level (P < 0.001) and a low sperm concentration (P < 0.05) were both found to be significant predictors for the identification of a microdeletion. Testosterone level, luteinising hormone level and testicular volume did not predict the presence of a microdeletion. None of the men with an AZF microdeletion had a sperm concentration of >0.5 million/mL. Lowering the sperm concentration threshold to this level retained the high sensitivity (100%) and increased the specificity (31%). This would produce significant cost savings when compared to the European Academy of Andrology/European Molecular Genetics Quality Network and European Association of Urology guidelines. The surgical sperm retrieval (SSR) rate after microdissection testicular sperm extraction was 33.2% in men with AZFc microdeletion. Conclusions The prevalence of Y‐chromosome microdeletions in infertile men appears to vary between populations and countries. A low sperm concentration was a predictive factor (P < 0.05) for identifying microdeletions in infertile males. A threshold for genetic testing of 0.5 million/mL would increase the specificity and lower the relative cost without adversely affecting the sensitivity. The rate of SSR was lower than that previously described in the literature.
  • Publisher: England: Wiley Subscription Services, Inc
  • Language: English
  • Identifier: ISSN: 1464-4096
    EISSN: 1464-410X
    DOI: 10.1111/bju.14521
    PMID: 30113756
  • Source: Alma/SFX Local Collection
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