Hypospadias: interactions between environment and genetics.
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.
Service d'Hormonologie, Hôpital Lapeyronie, CHU de Montpellier et UM1, Montpellier, France.
N
N
Kalfa
P
P
Philibert
L S
LS
Baskin
C
C
Sultan
D000818:Animals; D052244:Endocrine Disruptors / Q000009:adverse effects*; D004785:Environmental Pollutants / Q000633:toxicity*; D057890:Epigenomics; D004967:Estrogens / Q000009:adverse effects; D005260:Female; D018507:Gene Expression Regulation, Developmental; D020022:Genetic Predisposition to Disease; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007021:Hypospadias / Q000209:etiology / Q000235:genetics*; D008297:Male; D018811:Maternal Exposure / Q000009:adverse effects*; D009154:Mutation
D052244:Endocrine Disruptors; D004785:Environmental Pollutants; D004967:Estrogens