Y Chromosome Microdeletions and Alterations of Spermatogenesis1
Carlo Foresta,
Enrico Moro and
Alberto Ferlin
University of Padova, Department of Medical and Surgical Sciences,
Clinica Medica 3, 35128 Padova, Italy
Three different spermatogenesis loci have been mapped on theY
chromosome and named "azoospermia factors" (AZFa,
b, and c).Deletions in these regions
remove one or more of the candidategenes (DAZ,
RBMY, USP9Y, and DBY) and
cause severe testiculopathyleading to male infertility. We have
reviewed the literatureand the most recent advances in Y chromosome
mapping, focusingour attention on the correlation between Y chromosome
microdeletionsand alterations of spermatogenesis. More than 4,800
infertilepatients were screened for Y microdeletions and published.
Suchdeletions determine azoospermia more frequently than severe
oligozoospermiaand involve especially the AZFc region
including the DAZ genefamily. Overall, the prevalence
of Y chromosome microdeletionsis 4% in oligozoospermic patients, 14%
in idiopathic severelyoligozoospermic men, 11% in azoospermic men,
and 18% in idiopathicazoospermic subjects. Patient selection criteria
appear to substantiallyinfluence the prevalence of microdeletions. No
clear correlationexists between the size and localization of the
deletions andthe testicular phenotype. However, it is clear that
larger deletionsare associated with the most severe testicular damage.
Patientswith Y chromosome deletions frequently have sperm either in
theejaculate or within the testis and are therefore suitable
candidatesfor assisted reproduction techniques. This possibility
raisesa number of medical and ethical concerns, since the use of
spermatozoacarrying Y chromosome deletions may produce pregnancies,
butin such cases the genetic anomaly will invariably be passedon to
male offspring.
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