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

Medientyp: E-Artikel
Titel: An analysis of the frequency of Y‐chromosome microdeletions and the determination of a threshold sperm concentration for genetic testing in infertile men
Beteiligte: 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.
Erschienen: Wiley, 2019
Erschienen in: BJU International, 123 (2019) 2, Seite 367-372
Sprache: Englisch
DOI: 10.1111/bju.14521
ISSN: 1464-4096; 1464-410X
Entstehung:
Anmerkungen:
Beschreibung: <jats:sec><jats:title>Objective</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Patients and Methods</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The prevalence of microdeletions was 4% (<jats:italic>n</jats:italic> = 58) in this study. These microdeletions were partitioned into the following regions: Azoospermia factors (AZF); AZFc (75%), <jats:styled-content style="fixed-case">AZF</jats:styled-content>b+c (13.8%), <jats:styled-content style="fixed-case">AZF</jats:styled-content>b (6.9%), <jats:styled-content style="fixed-case">AZF</jats:styled-content>a (1.7%), and partial <jats:styled-content style="fixed-case">AZF</jats:styled-content>a (1.7%). A high follicle‐stimulating hormone level (<jats:italic>P</jats:italic> < 0.001) and a low sperm concentration (<jats:italic>P</jats:italic> < 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 <jats:styled-content style="fixed-case">AZF</jats:styled-content> microdeletion had a sperm concentration of >0.5 million/<jats:styled-content style="fixed-case">mL</jats:styled-content>. 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 (<jats:styled-content style="fixed-case">SSR</jats:styled-content>) rate after microdissection testicular sperm extraction was 33.2% in men with <jats:styled-content style="fixed-case">AZF</jats:styled-content>c microdeletion.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>The prevalence of Y‐chromosome microdeletions in infertile men appears to vary between populations and countries. A low sperm concentration was a predictive factor (<jats:italic>P</jats:italic> < 0.05) for identifying microdeletions in infertile males. A threshold for genetic testing of 0.5 million/<jats:styled-content style="fixed-case">mL</jats:styled-content> would increase the specificity and lower the relative cost without adversely affecting the sensitivity. The rate of <jats:styled-content style="fixed-case">SSR</jats:styled-content> was lower than that previously described in the literature.</jats:p></jats:sec>

Nur in Feld suchen:

Zuletzt gesuchte Begriffe: