The presence of intersexuality in patients with advanced hypospadias and undescended gonads

Abstract

We studied 20 patients with advanced degrees of hypospadias and undescended testes for the presence of an intersex disorder. A comprehensive clinical, cytogenetic, endocrinological and surgical evaluation was performed. All patients were found to have an intersex disorder, including 10 with male pseudohermaphroditism and 10 with a gonadal/genetic intersex disorder. In the latter group 4 patients had mixed gonadal dysgenesis, 3 had dysgenetic male pseudohermaphroditism, 1 had the 46XX male syndrome, 1 had true hermaphroditism and 1 had Klinefelter's syndrome. Genetic and gonadal intersex disorders were more frequent in patients with a unilateral undescended testis and perineal hypospadias.