Human Reproduction, Vol. 15, No. 7, 1431-1434,
July 2000
© 2000 European Society of Human Reproduction and Embryology
Prognostic value of Y deletion analysis
What is the clinical prognostic value of Y chromosome microdeletion analysis?
1 Immunogénétique Humaine, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France and 2 Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini 6, Florence, Italy
In many centres, Y chromosome deletion analysis is still not performed routinely and if so, the results are used for genetic counselling but are not considered as having a useful prognostic value. The type of deletion (AZFa, b or c) has been proposed as a potential prognostic factor for sperm retrieval in men undergoing TESE. AZFc deletions and partial AZFb deletions are associated with sperm retrieval in ~50% of cases while in the case of a patient with complete AZFb deletion the probability of finding mature spermatozoa is virtually nil. Therefore the extent and position of a Y microdeletion is important (complete or partial). The prognostic value of Y chromosome deletion analysis in cases of oligozoospermia is important when one considers the progressive decrease of sperm number over time in men with AZFc deletions. Cryo-conservation of spermatozoa in these cases could avoid invasive techniques, such as TESE/ICSI, in the future. Male offspring that are conceived by ICSI or IVF techniques from father with oligozoospermia or azoospermia would also benefit from knowledge of their Y status, since the identification of the genetic defect will render future medical or surgical therapies unnecessary. Y microdeletion screening is therefore important, not only to define the aetiology of spermatogenic failure, but also because it gives precious information for a more appropriate clinical management of both the infertile male and his future male child.
Key words: AZF deletions/azoospermia/genetic counselling/oligozoospermia/Y chromosome deletion
3 To whom correspondence should be addressed at: Immunogénétique Humaine, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France. E-mail: ckrausz{at}pasteur.fr or c.krausz{at}dfc.unifi.it
This debate was previously published on Webtrack, May 19, 2000
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