title: 49,XXXXY syndrome with hydronephrosis caused by intravesical ureterocele.
abstract: A 1-month-old boy was referred to our hospital with right hydronephrosis. Excretory urography showed poor visualization of the right kidney and a filling defect in the bladder. Chromosomal analysis of peripheral blood revealed a karyotype of 49,XXXXY, and a diagnosis of 49,XXXXY Klinefelter s syndrome associated with hydronephrosis caused by intravesical ureterocele was made. 49,XXXXY Klinefelter s syndrome with anomalies of the urinary tract is extremely rare, and only 2 cases have been reported so far.
authors.affiliation: Department of Urology, Nagoya City University Medical School, Nagoya, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Kojima
authors.forename: Y
authors.initials: Y
authors.lastname: Hayashi
authors.forename: T
authors.initials: T
authors.lastname: Maruyama
authors.forename: S
authors.initials: S
authors.lastname: Sasaki
authors.forename: T
authors.initials: T
authors.lastname: Mogami
authors.forename: K
authors.initials: K
authors.lastname: Kohri
mesh_terms: D006801:Humans; D006869:Hydronephrosis / Q000209:etiology*; D007231:Infant, Newborn; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D014518:Ureterocele / Q000150:complications*