Université Pierre et Marie Curie Paris-6, EA1533, AP-HP, Hopital Tenon, Service d’Histologie-Biologie de la Reproduction et Cytogénétique, 4 rue de la Chine, 75020 Paris, Unité Reproduction, Fertilité et Populations, Institut Pasteur, 25-28 rue du Dr Roux, 75015 Paris
The development of new technologies for the analysis of the whole human genome has highlighted many genetic variants that could be involved in the development of pathologies. However it is still difficult to define their precise roles, especially when changes do not appear to modify coding sequences. Several genes are known to be involved in male fertility and the principal genes studied routinely in infertile patients are, in addition to those located on the Y chromosome : the CFTR gene variants of which cause cystic fibrosis and the absence of the vas deferens ; mutations in the androgen receptor gene that are associated with the syndrome of partial or total insensitivity to the androgens and finally the INSL3 gene and its receptor LGR8 associated with cryptorchidism. Many other genes are known to be involved in fertility from animal studies but their contribution to male infertility is unknown.