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

This case-control study examined 50 male children with hypospadias and 50 healthy controls to identify epidemiological and genetic risk factors. Significant risk factors included higher maternal and paternal age, consanguinity, rural residence, and preterm labor. Genetic analysis showed that 56% of children with hypospadias had the mutant L allele of the V89L polymorphism in the Steroid 5 alpha reductase type 2 gene, compared to none in the control group, with a significant p-value (p < 0.001). The study concluded that older maternal age and rural residence were the most independent predictors of hypospadias, and genetic variants in the SRD5A2 gene may contribute to the condition's development.