Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A Case of Klinefelter Syndrome associated with Unilateral Multicystic Dysplastic Kidney in a Newborn Infant

신생아기에 발견된 편측 다낭성 신이형성이 동반된 Klinefelter 증후군 1례

  • Ha, Kyung A (Department of Pediatrics, School of Medicine, The Catholic University of Korea) ;
  • Chung, Sun Mi (Department of Pediatrics, School of Medicine, The Catholic University of Korea) ;
  • Choi, Eun Jin (Department of Pediatrics, School of Medicine, The Catholic University of Korea) ;
  • Kim, Jin Kyung (Department of Pediatrics, School of Medicine, The Catholic University of Korea) ;
  • Nho, Un Seok (Department of Pediatrics, School of Medicine, The Catholic University of Korea) ;
  • Park, Jae Shin (Department of Urology, School of Medicine, The Catholic University of Korea) ;
  • Kim, Woo Taek (Department of Pediatrics, School of Medicine, The Catholic University of Korea) ;
  • Kwon, Young Dae (Department of Pediatrics, School of Medicine, The Catholic University of Korea)
  • 하경아 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 정선미 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 최은진 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 김진경 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 노은석 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 박재신 (대구가톨릭대학교 의과대학 비뇨기과학교실) ;
  • 김우택 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 권영대 (대구가톨릭대학교 의과대학 소아과학교실)
  • Received : 2002.04.17
  • Accepted : 2002.06.03
  • Published : 2002.09.15
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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.

Klinefelter 증후군에서는 여러 가지 선천성 기형을 동반하지만 신장의 기형은 드믄 편이며 현재까지 49, XXXXY 증후군에서 다낭성 신이 동반된 경우가 있었고, 47, XXY 증후군에서는 편측성 신 형성부전이 동반된 경우가 보고되었으나 다낭성신 이형성의 보고는 없었다. 따라서 저자들은 신생아기에 발견된 편측 다낭성 신이형성이 동반된 Klinefelter 증후군 1례를 경험하였기에 보고하는 바이다.

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