Human Reproduction, Vol. 16, No. 1, 9-12,
January 2001
© 2001 European Society of Human Reproduction and Embryology
Prognostic value of Y deletion analysis
How reliable is the outcome of Y deletion analysis in providing a sound prognosis?
1 Department of Obstetrics and Gynaecology, National University Hospital, Lower Kent Ridge Road, Singapore 119074
Y chromosomal microdeletions at the azoospermia factor (AZF) locus have been implicated as one of the major causes of idiopathic male infertility. The availability of intracytoplasmic sperm injection (ICSI) in treating a variety of male infertility has raised the risk of the transmission of Y microdeletions from father to son. In many IVF centres, Y microdeletion analysis has been used as a diagnostic tool for genetic counselling of infertile couples. Presently, the only prognosis that can be derived from Y microdeletion analysis is that the affected male offspring would benefit from proper clinical management of their infertility. Prognoses based on the pattern of Y microdeletions in relation to phenotype are rather subjective and inconclusive because of insufficient data to derive a definitive correlation whose significance can be determined by statistical analysis. Standardization of the number and choice of sequence-tagged sites (STS), whose deletions result in defective spermatogenesis, for the polymerase chain reaction (PCR) analysis of Y microdeletions would enhance its reliability in the interpretation of the results which is crucial for therapeutic decision-making. Furthermore, in-depth understanding of the gene functions in male infertility, especially at the AZF locus, would contribute greatly to the quality of the prognostic value of Y microdeletion analysis.
Key words: AZF/azoospermia/male infertility/prognosis/Y microdeletions
1 To whom correspondence should be addressed. E-mail: obgngsc{at}nus.edu.sg
This debate was previously published on Webtrack, www.oup.co.uk/humrep/comment on October 10, 2000
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