Hypospadias: interactions between environment and genetics

Archive ouverte

Kalfa, N. | Philibert, P. | Baskin, L.S. | Sultan, C.

Edité par CCSD ; Elsevier -

International audience. Hypospadias is one of the most common congenital malformations. It is considered to be a mild form of the 46,XY disorders of sex development (DSD), but its precise etiology remains to be elucidated. Compromised androgen synthesis or effects can cause this frequent malformation, although the mutational analyses of the genes involved in androgen actions have identified abnormalities in only a very small portion of patients. The overwhelming majority of cases remain unexplained and hypospadias may be a highly heterogeneous condition subject to multiple genetic and environmental factors. We here review the recent advances in this field and discuss the potential interactions between the environment and genetics.

Suggestions

Du même auteur

Unusual Virilization in Girls with Juvenile Granulosa Cell Tumors of the Ovary Is Related to Intratumoral Aromatase Deficiency

Archive ouverte | Kalfa, N. | CCSD

International audience

Is hypospadias a genetic, endocrine or environmental disease, or still an unexplained malformation?

Archive ouverte | Kalfa, N. | CCSD

International audience

Polymorphisms of MAMLD1 gene in hypospadias

Archive ouverte | Kalfa, C | CCSD

International audience

Chargement des enrichissements...