Y chromosome microdeletions and alterations of spermatogenesis, patient approach and genetic counseling.
Infertility affects 15% of couples at reproductive age and human male infertility appears frequently idiopathic. The main genetic causes of spermatogenesis defect responsible for non-obstructive azoospermia and severe oligozoospermia are constitutional chromosomal abnormalities and microdeletions in the azoospermia factor region of the Y chromosome. The improvement of the Yq microdeletion screening method gave new insights in the mechanism responsible for the genesis of Yq microdeletions and for the consequences of the management of male infertility and genetic counselling in case of assisted reproductive technology.
Laboratoire de biologie de la reproduction - CECOS, EA 4308 « gamétogenèse et qualité du gamète », IRIBHN, université de Rouen, CHU-hôpitaux de Rouen, 1, rue de Germont, 76031 Rouen cedex, France. Electronic address: Nathalie.rives@chu-rouen.fr.
Nathalie
N
Rives
D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics* / Q000648:ultrastructure; D019468:Disease Management; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D008297:Male; D027724:Reproductive Techniques, Assisted; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics* / Q000628:therapy; D013091:Spermatogenesis / Q000235:genetics
Azoospermie non obstructive; Infertilité masculine; Male infertility; Microdélétions du chromosome Y; Non-obstructive azoosspermia; Oligozooospermia; Oligozoospermie; Yq microedeletion