Abstract:
: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.
journal_name
Mol Cell Endocrinoljournal_title
Molecular and cellular endocrinologyauthors
Kalfa N,Philibert P,Baskin LS,Sultan Cdoi
10.1016/j.mce.2011.01.006subject
Has Abstractpub_date
2011-03-30 00:00:00pages
89-95issue
2eissn
0303-7207issn
1872-8057pii
S0303-7207(11)00027-Xjournal_volume
335pub_type
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