Klinefelter syndrome is characterised by advancing testicular function deterioration causing aspermatogenesis and androgen deficiency. Klinefelter patients characteristically have complete male sex differentiation, and genital anomalies are infrequently associated.
Penoscrotal malformations at birth are very rare in this syndrome. Nonetheless, it is important to know the association, as one of the causes of abnormal genitalia at birth. Understanding of the indications of karyotyping can help early detection of these cases. We report a boy who had Klinefelter syndrome with penoscrotal transposition (PST), hypospadias and inguinal hernia.