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  • Title: Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome.
    Author: Abaci A, Atas A, Bober E, Ates O, Hakgiider G, Büyükgebiz A.
    Journal: J Pediatr Endocrinol Metab; 2006 Sep; 19(9):1171-4. PubMed ID: 17128566.
    Abstract:
    Caudal dysgenesis syndrome is a rare cause of female pseudohermaphroditism. This syndrome consists of absent perineal and anal openings in association with ambiguous genitalia, urogenital, colonic, and lumbosacral anomalies. We report a case of caudal dysgenesis syndrome in an infant who had non-palpable testes, bifid scrotum, a phallus-like structure and urethral atresia. Radiological evaluation revealed bilateral hydronephrosis, bifid uterus, cervix and vagina. Caudal dysgenesis syndrome should be considered in any female infant presenting with bilateral streak ovaries, and Müllerian and genito-urinary anomalies.
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