Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Clinical disease characteristics according to karyotype in Turner syndrome

터너증후군에서 핵형에 따른 임상질환의 발병양상

  • Yeo, Chae Young (Department of Pediatrics, Chonnam National University Medical School) ;
  • Kim, Chan Jong (Department of Pediatrics, Chonnam National University Medical School) ;
  • Woo, Young Jong (Department of Pediatrics, Chonnam National University Medical School) ;
  • Lee, Dae Yeol (Department of Pediatric, Chonbuk National University Medical School) ;
  • Kim, Min Sun (Department of Pediatric, Chonbuk National University Medical School) ;
  • Kim, Eun Young (Department of Pediatrics, Kwangju Christian Hospital) ;
  • Kim, Jong Duck (Department of Pediatrics, Wonkwang University School of Medicine)
  • 여채영 (전남대학교 의과대학 소아과학교실) ;
  • 김찬종 (전남대학교 의과대학 소아과학교실) ;
  • 우영종 (전남대학교 의과대학 소아과학교실) ;
  • 이대열 (전북대학교 의학전문대학원 소아과학교실) ;
  • 김민선 (전북대학교 의학전문대학원 소아과학교실) ;
  • 김은영 (광주기독병원 소아청소년과) ;
  • 김종덕 (원광대학교 의학전문대학원 소아과학교실)
  • Received : 2009.09.04
  • Accepted : 2009.10.19
  • Published : 2010.02.15
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Abstract

Purpose : Turner syndrome (TS) is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems.Results : The distribution of karyotype was 45,X (47.8%), mosaic pattern (34.4%) and structural aberration group (17.8%). Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%), cardiovascular anomalies (18.6%), thyroid disorders (9.3%) and auditory problems (11.6%). Mosaic group had renal anomalies (3.2%), thyroid disorders (12.9%), no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%), thyroid disorders (12.5%) and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P =0.025). Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

목 적 : 터너증후군은 45,X의 전형적인 핵형 이외에도 다양한 정도의 X 염색체의 이상을 가진 질환으로 신장, 심혈관 기형, 갑상샘질환 및 청력이상을 동반하는 빈도가 많다. 본 연구에서는 핵형에 따른 동반질환의 발생빈도와 양상을 조사하였다. 방 법 : 1998년 1월부터 2007년 12월까지 호남지역 4개 병원에서 염색체검사상 터너증후군으로 확진된 90명의 의무기록을 후향적으로 분석하였다. 이들의 핵형을 45,X 군, 모자이시즘군, 구조적 이상군으로 분류하고 신장 및 심장초음파, 갑상샘기능검사, 청력검사 등을 통하여 동반질환의 발생빈도를 조사하였다. 결 과 : 45,X 군은 47.8%, 모자이시즘군은 34.4%, 구조적 이상군은 17.8%의 분포를 보였다. 신장, 심혈관 기형, 갑상샘질환, 청력이상은 각각 순서대로 4.4%, 10.0%, 11.1%, 5.6%의 빈도를 보였다. 45,X 군은 신장 기형이 7.0%, 심혈관 기형이 18.6% 갑상샘 질환이 9.3%, 청력이상이 11.6%에서 나타났다. 모자이시즘군은 신장기형이 3.2%, 갑상샘 질환이 12.9%의 발생율을 보였고 심혈관 기형과 청력이상이 있는 환자는 없었다. 구조적 이상군은 심혈관 기형이 6.3%, 갑상샘질환이 12.5%에서 나타났다. 45,X 군에서는 심혈관 질환의 발생율이 다른 두군에 비하여 통계적으로 유의하게 높았다(P =0.025). 결 론 : 터너증후군에서 핵형별로 동반질환의 분포가 다른 양상을 보였으며 적절한 선별검사를 통해 질환을 조기 진단하여 적절한 관리가 필요하리라 생각된다.

Keywords

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