title: A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis.
abstract: Transverse testicular ectopia (TTE) is a rare form of ectopic testis observed in boys with a normal 46, XY karyotype. TTE can be associated with persistent Müllerian duct syndrome or other genital anomalies such as hypospadias. However, TTE concomitant with both persistent Müllerian duct remnants and hypospadias has never been reported in the literature. A case of chromosomal disorders of sex development with TTE and persistent Müllerian duct remnants, which was initially presumed to represent mixed gonadal dysgenesis, is presented.
authors.affiliation: Department of Urology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. Electronic address: fumim@mch.pref.osaka.jp.
authors.forename: Fumi
authors.initials: F
authors.lastname: Matsumoto
authors.affiliation: Department of Urology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors.forename: Futoshi
authors.initials: F
authors.lastname: Matsui
authors.affiliation: Department of Urology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Yazawa
authors.affiliation: Department of Urology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Shimada
mesh_terms: D003937:Diagnosis, Differential; D058490:Disorder of Sex Development, 46,XY / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D005500:Follow-Up Studies; D006060:Gonadal Dysgenesis, Mixed / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013737:Testis / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014463:Ultrasonography; D018666:Ureteroscopy; D013521:Urologic Surgical Procedures, Male / Q000379:methods*