[Penoscrotal hypospadias with XXYY chromosome pattern]

This is the report of a boy, 2 years and 4 months of age who presented with an penoscrotal hypospadia with normal appearing testes. Physical examination and routine laboratory tests revealed--besides a broad base of the nose and clinodactyly--no abnormality. The boy exhibits a normal speech development with retarded global intellectual development. Investigation of the hormon status revealed a disturbance of testosteron secretion and a hypergonadotropic hypogonadism. Chromosomal analysis in lymphocyte cultures revealed a XXYY karyotyp. This chromosomal pattern is seen in 3% of patients with Klinefelter syndrom; the estimated frequency is 1 in 25,000 population. A combination of an XXYY chromosomal pattern with a penoscrotal hypospadia has not been reported in the literature so far.