Ambiguous Genitalia: An Approach

Ambiguous Genitalia •Term ambiguous genitalia applies to any infant with a confusing appearance of the external genitalia. This includes any infant with: i. A phallus and bilaterally non palpable testes. ii.Unilateral cryptorchidism and hypospadias iii.Penoscrotal or perineoscrotal hypospadias with or without microphallus even if testes are descended. IV.Discordance of external genitalia compared with prenatal karyotype. V.Apparently female appearance with enlarged clitoris or inguinal hernia. VI.Overt genital ambiguity such as cloacal exstophy. VII.Asymmetry of labioscrotal folds with or without crytorchidism A conservative estimate is that 1 in 2000 children born will be affected by an intersex condition. •98 % of affected babies are due to congenital adrenal hyperplasia.