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Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
Male infertility related to an aberrant karyotype, 47,XYY: four case reports
Faeza El-Dahtory1, Hany M Elsheikha
1The School of Veterinary Medicine and Science, The University of Nottingham, Sutton Bonington Campus, Loughborough, Leicestershire, LE12 5RD, UK. hany.elsheikha@nottingham.ac.uk.
Background:
47,XYY syndrome is a sex chromosomal abnormality observed in humans, with a prevalence of 0.1% of male births. Sex chromosome anomalies are more frequently associated with male infertility.
Case Report:
We present here four cases of infertile men with azoospermia or severe oligozoospermia attending a genetic and fertility clinic. Chromosomal analysis of the peripheral blood lymphocytes demonstrated the constitutional karyotype of 47, XYY. Using fluorescence in situ hybridization (FISH) the presence of extra Y chromosome was confirmed, supporting the cytogenetic finding.
Conclusion:
The 47,XYY syndrome is relatively uncommon and can be missed clinically because of its variable clinical presentations. Accurate diagnosis of this constitutional karyotype provides a valuable aid in the counselling and early management of the patients who undertake fertility evaluation.
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