| Institution: | 1. Département de Chirurgie et Urologie Pédiatrique, Hôpital Lapeyronie, CHU de Montpellier et Université Montpellier, Montpellier, France;2. National Reference Center of Genital Development CRMR DEV-GEN Constitutif, Institut Universitaire de Recherche Clinique, Departement de Génétique, Université de Montpellier, Montpellier, France
Unité d'Endocrinologie et Gynécologie Pédiatriques, Service de Pédiatrie, CHU de Montpellier, Hôpital Arnaud de Villeneuve et Université Montpellier, Montpellier, France;3. National Reference Center of Genital Development CRMR DEV-GEN Constitutif, Institut Universitaire de Recherche Clinique, Departement de Génétique, Université de Montpellier, Montpellier, France |
| Abstract: | During the last decade, a tremendous amount of work has been devoted to the study of the molecular genetics of isolated hypospadias and cryptorchidism, two minor forms of disorders of sex development (DSD). Beyond the genes involved in gonadal determination and sex differentiation, including those underlying androgen biosynthesis and signaling, new genes have been identified through genome-wide association study and familial clustering. Even if no single genetic defect can explain the whole spectrum of DSD, these recent studies reinforce the strong role of the genetic background in the occurrence of these defects. The timing of signaling disruption may explain the different phenotypes. |
