J Korean Pediatr Soc.
2002 Sep;45(9):1141-1145.
A Case of Klinefelter Syndrome associated with Unilateral Multicystic Dysplastic Kidney in a Newborn Infant
- Affiliations
-
- 1Department of Pediatrics, School of Medicine, The Catholic University of Korea, Daegu, Korea. yoma1021@hanmail.net
- 2Department of Urology, School of Medicine, The Catholic University of Korea, Daegu, Korea.
Abstract
- Klinefelter syndrome is the most common chromosomal abnormality, with a 47, XXY karyotype and typical clinical findings of infertility, hypogonadism, reduced body hair, gynecomastia, tall stature, and incresed gonadotropins and decreased testosterone levels. In addition to this classic description, several other diseases have been discribed in Klinefelter syndrome such as unilateral renal aplasia, autoimmune disease, diabetes mellitus, sexual precoxity, renal cell carcinoma, intravesical ureterocele, and osteoporosis. The incidence is 1 in 400-1,000 of the population and urological abnormalities are not common. However a case of Klinefelter syndrome associated with multicystic dysplastic kidney has not been not reported up to date. Therefore, we describe a 1- day-year old baby boy who presented with Klinefelter syndrome with unilateral multicystic kidney dysplastic disease, plus with a brief review of the literature.
