[Male infertility and microdeletions of the Y chromosome].
It is estimated that about 10% of men suffer from male infertility. Male infertility is associated with a reduction in the quantity, reduced mobility or abnormal morphology of sperm. In about 50-60% of cases the etiology can be identified. When the cause is unknown, it is referred to as idiopathic infertility. A genetic cause is suspected in some of the latter cases since chromosome anomalies and familial forms of male infertility have been reported. Three different regions of the Y chromosome, termed AZFa, AZFb and AZFc are recurrently deleted in about 15% of cases of idiopathic azoospermia or severe oilgozoospermia. AZFc deletions form the majority of these deletions. The presence of a Y microdeletion does not seem to alter the fertilisation of the oocyte or the development of the embryo. However, if the child is a boy, he will inherit the deletion from his father and will most likely be infertile when he is an adult. In the absence of any other information concerning an association between Y chromosome microdeletions and other development anomalies of the child, in genetic counselling the principal risk for male offspring appears to be infertility.
McElreavey
K
K
Institut Pasteur, 25, rue du Dr Roux, 75724 Paris, France. kenmce@pasteur.fr
Krausz
C
C
Patrat
C
C
Fellous
M
M
D003937:Diagnosis, Differential; D017353:Gene Deletion; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009154:Mutation; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D014998:Y Chromosome