Penoscrotal Hypospadias presenting as Ambiguous Genitalia mimicking Congenital Adrenal Hyperplasia: A Case Report with Review of Literature

Ambiguous genitalia is a rare congenital anomaly where sex of the newborn cannot be readily distinguished because of atypical appearance of the external genitalia. Hypospadias can also present as ambiguous genitalia. We report a case of a preterm male baby born with ambiguous genitalia with undescended testis and low set ear. Initially congenital adrenal hyperplasia was suspected but 17-alpha-hydroxyprogesterone level was normal, later diagnosis of penoscrotal hypospadias was made. Ultrasonography revealed bilateral testicular sac. Ambiguous genitalia though is commonly caused due to congenital adrenal hyperplasia, it can also be a manifestation of penoscrotal hypospadias. Hormonal, biochemical and radiological approach along with genetic analysis will help reach definitive diagnosis. Keywords:Ambiguous genitalia; Disorders of sexual differentiation; Congenital Adrenal Hyperplasia; Penoscrotal hypospadias; 17-hydroxy-progesterone