title: Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome.
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.
authors.affiliation: Division of Endocrinology, Faculty of Medicine, Department of Pediatrics, Dokuz Eylul University, Izmir, Turkey. ayhan.abaci@deu.edu.tr
authors.forename: Ayhan
authors.initials: A
authors.lastname: Abaci
authors.forename: Ali
authors.initials: A
authors.lastname: Atas
authors.forename: Ece
authors.initials: E
authors.lastname: Bober
authors.forename: Oguz
authors.initials: O
authors.lastname: Ates
authors.forename: Gülce
authors.initials: G
authors.lastname: Hakgiider
authors.forename: Atilla
authors.initials: A
authors.lastname: Büyükgebiz
mesh_terms: D001003:Anal Canal / Q000002:abnormalities; D012734:Disorders of Sex Development / Q000150:complications*; D005187:Fallopian Tubes / Q000473:pathology; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006728:Hormones / Q000097:blood; D006801:Humans; D006869:Hydronephrosis / Q000150:complications; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009095:Mullerian Ducts / Q000473:pathology; D010053:Ovary / Q000473:pathology; D012611:Scrotum / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D013577:Syndrome; D014521:Urethra / Q000002:abnormalities; D014564:Urogenital Abnormalities / Q000150:complications*
chemical_list: D006728:Hormones