Genetic role of simple hypospadias

ABSTRACT

Familial aggregation of simple hypospadias is well documented. The inheritance of this disorder was studied in 71 probands and their families up to the third degree relatives [1107 males] using X2 test for autosomal dominant inheritance and sib-method for autosomal recessive inheritance. An estimation of heritability, a test for multifactorial inheritance, parental consanguinity and average coefficient of inbreeding were done. The results revealed that a higher frequency of the disorder was found among relatives of the probands and diminished as the degree of relationship descended. Data was inconsistent with monogenic modes of inheritance in spite of high consanguinity rate and average coefficient of inbreeding. The results agreed with the multifactorial inheritance. The estimated weighted mean of h2 was 78.08% indicating the importance of the genetic role in the etiology of uncomplicated hypospadias