Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?
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 approximately 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.
Krausz
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C
Immunogénétique Humaine, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France and Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini 6, Florence, Italy. ckrausz@pasteur.fr or c.kraus@dfc.unifi.iP
Quintana-Murci
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L
McElreavey
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K
D001685:Biological Factors / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics; D011379:Prognosis; D014998:Y Chromosome
D001685:Biological Factors