Male-like external genitalia with epididymis in a case of 46, XX disorder of sex development due to congenital adrenal hyperplasia

Abstract

• A case of five and half-year-old 46,XX phenotypic male with hyper pigmented empty scrotum, penile urethra, epididymis along with fallopian tubes, uterus and upper vagina as well as ovary is described. Hormonal studies were consistent with the diagnosis of congenital adrenal hyperplasia. The case represents the first documented case of 46,XX disorder of sex development due to virilizing CAH associated with differentiation of Wolffian ducts into epididymis.
• KEY WORDS: 46,XX, virilization, external genitalia, epididymis, congenital adrenal hyperplasia