Congenital Heart Diseases

Congenital heart diseases (CHDs) are the most common cause of all birth defects and account for nearly 30% of all major congenital anomalies leading to mortality in the first year of life. It occurs with an incidence of 1 per 100 live births. The major genetic causes for CHD include chromosomal disorders, single gene disorders, teratogenic disorders and multifactorial disorders. In one third of cases extracardiac anomalies are present, including urogenital anomalies.In this study we present a rare case of a 46,XY patient with CHD associated with ambiguous genitalia. Ambiguity of the external genitalia included: clitoris – like phallus (1.5 cm long), bifid scrotum, two palpable gonads were present in the bifid scrotum. Echocardiogram revealed