Genetic and Other Epidemiological Risk Factors of Infants and Children with Hypospadias: A Case Control Study

This case-control study investigated the epidemiological and genetic risk factors for hypospadias in 50 male children with the condition compared to 50 healthy controls. The study found that higher maternal and paternal age, consanguinity, rural residence, and preterm labor are significant risk factors for hypospadias. Genetic analysis revealed that 56% of children with hypospadias carried the mutant L allele of the V89L polymorphism in the Steroid 5 alpha reductase type 2 gene, compared to none in the control group, and they also had a higher frequency of the heterozygous GR genotype for the G34R mutation. Multivariate logistic regression identified maternal age and rural residence as the most independent predictors of hypospadias.