The extent to which masculinization of the external genitalia occurs in the female pseudohermaphrodite with congenital adrenal hyperplasia is variable. The usual patient with this condition shows some clitoral enlargement with chordee, a urethra and vagina opening into a urogenital sinus which has its external aperture at the base of the clitoris, and some degree of corrugation and fusion of the labia majora simulating a scrotum. Several cases with the urethra coursing partially or entirely through the phallus have been reported. The most extreme degree of masculinization is represented by the development of the phallus into a penile structure with the urethra pursuing a normal course and opening at the tip of the glans and with fusion of the labia to resemble a scrotal structure. Patients with this configuration of the external genitalia resemble cryptorchid males with macrogenitosomia praecox due to congenital adrenal hyperplasia. Only three such cases previously have
AINGER LE, ZAPATA GC, ELY RS, KELLEY VC. Female Pseudohermaphroditism with Penile Urethra: Report of an Unusual Case of Congenital Adrenal Hyperplasia. AMA Am J Dis Child. 1958;95(4):410–412. doi:10.1001/archpedi.1958.02060050414010
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