All issues > Volume 45(9); 2002

Case Report

J Korean Pediatr Soc. 2002;45(9):1141-1145. Published online September 15, 2002.

A Case of Klinefelter Syndrome associated with Unilateral Multicystic Dysplastic Kidney in a Newborn Infant

Kyung A KA Ha¹, Sun Mi SM Chung¹, Eun Jin EJ Choi¹, Jin Kyung JK Kim¹, Un Seok US Nho¹, Jae Shin JS Park², Woo Taek WT Kim¹, Young Dae YD Kwon¹

¹Department of Pediatrics, School of Medicine, The Catholic University of Korea, Daegu, Korea
²Department of Urology, School of Medicine, The Catholic University of Korea, Daegu, Korea

Correspondence Kyung A KA Ha ,Email: yoma1021@hanmail.net

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.

Keywords :Klinefelter, Muticystic dysplastic kidney, Newborn