49,XXXXY syndrome with hydronephrosis caused by intravesical ureterocele.
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.
Kojima
Y
Y
Department of Urology, Nagoya City University Medical School, Nagoya, Japan.
Hayashi
Y
Y
Maruyama
T
T
Sasaki
S
S
Mogami
T
T
Kohri
K
K
D006801:Humans; D006869:Hydronephrosis / Q000209:etiology*; D007231:Infant, Newborn; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D014518:Ureterocele / Q000150:complications*