Normal sexual differentiation is the result of a series of individual steps that occur in an orderly fashion. Initially, chromosomal factors direct the defferentiation of the indifferent gonad into either an ovary or a testis. Then, under the influence of hormones secreted by the fetal testes, differentiation of the internal ducts and external genitalia is completed. Consequently, normal sexual differentiation can be subdivided into three separate events: differentiation of the gonads, development of the internal ducts and differentiation of the external genitalia.
However, during embryogenesis any disturbance of the various steps in normal sexual differentiation may be reflected clinically as a disorder of intersexuality e.g. chromosomal anomalies, female pseudohermaphroditism, and male pseudohermaphroditism, etc.
Genetic females with female pseudohermaphroditism have virilization of the external genitalia produced by intrauterine exposure to excessive androgen. But, because they normally developed ovaries and Mullerian derivatives, they are all potentially fertile. The degree of masculinization varies depending on the stage of differentiation at the time of exposure, from clitoral hypertrophy to true phallic-urethral formation with labioscrotal fusion. The most common cause is congenital adrenal hyperplasia in which cortisol synthesis is impaired due to deficiency of 21-hydroxylase. In attempting to compensate for lower cortisol levels, ACTH stimulates the adrenal gland to secrete excessive quantities of androgen.
We experienced a 2 year-old girl, who expressed genital anomalies such as greatly enlarged clitoris-like male phallus associated with posterior labial fusion and a single perineal urogenital orifice which were first noticed by her parents since birth. The general assessment was normal and the karyotype was 46XX as normal genetic female. Plasma testosterone, ACTH, DHEAS, progesterone, and urinary 17-KS values were higher than normal, but cortisol was within normal value. Her blood pressure and serum eleotrolytes were normal. IVP, abdominal sonogram, retrograde cystogram and vaginogram were found to be normal.
Explorative laparotomy and constructive operation of female external genitalia including vaginoplasty using inverted Y-shaped skin flap and clitoridectomy were performed under general anesthesia. Both adrenal glands revealed hyperplastic only, and both ovary was excised in wedge shape for shitologic examination. She was finally diagnosed as female pseudohermaphroditism due to congenital adrenal hyperplasia accompanied by incomplete deficiency of 21-hydroxlase, and hormonal therapy was started with hydrocortisone 15㎎/day in three divided dose for 1 month. The value of 17-KS in 24 hour urine study during follow-up period was within normal limit as 1.3㎎/day at POD ￠1 month, 0.7㎎/day at POD ￠2 month, 1.0mg/day at POD ￠6 month, 0.8mg/day at POD ￠16 month. Results of vaginoplasty, clitoridectomy, and hormonal therapy was satisfactory, and there was no recurrence or prematurity.
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