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Journal of the Korean Pediatric Society 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 Ha1, Sun Mi Chung1, Eun Jin Choi1, Jin Kyung Kim1, Un Seok Nho1, Jae Shin Park2, Woo Taek Kim1, Young Dae 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
신생아기에 발견된 편측 다낭성 신이형성이 동반된 Klinefelter 증후군 1례
하경아1, 정선미1, 최은진1, 김진경1, 노은석1, 박재신2, 김우택1, 권영대1
1대구가톨릭대학교 의과대학 소아과학교실
2대구가톨릭대학교 의과대학 비뇨기과학교실
Correspondence:  Kyung A Ha,
Email: yoma1021@hanmail.net
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.
Key Words: Klinefelter, Muticystic dysplastic kidney, Newborn


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