First stage reconstruction of ambiguous external genitalia in children

ABSTRACT

The criteria for the identification of sex are as follows; sex chromosome and chromatin, gonadal structure, morphology of the external genitalia, morphology of the internal genitalia, hormonal status, sex of rearing and gender role. During these steps, any disturbance may be presented clinically as a disorder of intersexuality. Hermaphroditism is a state of having ambiguous genitalia due to abnormal sexual differentiation. We experienced three children with ambiguous external genitalia. Two patients were male pseudohemaphrodites, who had a normal male chromosomal constitution of 46XY with incomplete masculinization of the external genitalia and hypospadia. One patient was female pseudohemaphrodite, who had a normal female chromosomal constitution of 46XX with male phallus-like enlarged clitoris associated with posterior labial fusion and single perineal urogenital orifice. There was elevated urinary 17 ketosteriod and hypertrophied adrenal gland on CT scan. We planned staged reconstruction because they were children. First stage reconstruction were surgical restoration of the ambiguous external genitalia to normal appearance and removal of contradictory gonadal structure as early as possible. Second stage reconstruction includes reconstruction of secondary sex characteristics after puberty such as mammaplasty, vaginoplasty, and facial plasty. Hormonal therapy was necessary for normalization of hormonal status and promotion of expression of secondary sex characteristics. In first stage reconstruction, we performed clitoroplasty by use of glans penis island flap with dorsal neurovascular bundle, labioplasty and orchiectomy in two male hermaphroites. All neoclitoris survived well with good preservation of sensation.