형제에서 발생한 갑상선 자극호르몬 수용체 유전자 돌연변이에 의한 갑상선 항진증 2례

Hyperthyroidism Caused by a Mutation in the Thyrotropin Receptor Gene in Two Brothers

  • 김재현 (서울대학교 의과대학 소아과학교실) ;
  • 이성수 (서울대학교 의과대학 소아과학교실) ;
  • 임중섭 (원자력병원 소아과) ;
  • 신충호 (서울대학교 의과대학 소아과학교실) ;
  • 양세원 (서울대학교 의과대학 소아과학교실)
  • Kim, Jae Hyun (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Lee, Sung Soo (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Lim, Jung Sup (Department of Pediatrics, Korea Cancer Center Hospital) ;
  • Shin, Choong Ho (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Yang, Sei Won (Department of Pediatrics, Seoul National University College of Medicine)
  • 투고 : 2004.09.02
  • 심사 : 2004.10.13
  • 발행 : 2005.03.15

초록

선천성 갑상선 항진증은 드문 질환으로 모체로부터 TSH에 대한 자가항체가 태반을 통해 태아에게 전달되어 생기며 일시적인 경우가 많다. 선천성 갑상선 항진증이 지속되지만 자가면역질환의 검사 소견을 보이지 않을 때에는 TSHR의 돌연변이에 의한 갑상선 항진증을 고려해야 한다. 저자들은 TSHR의 돌연변이에 의한 갑상선 항진증 증례를 2례 경험하였기에 문헌고찰과 함께 보고하는 바이다.

Thyrotropin receptor(TSHR) mutations must be considered when congenital hyperthyroidism has persisted, but there has been no evidence for autoimmunity. TSHR mutations leading to constitutive activation of the thyroid gland were identified as the molecular cause of autosomal dominant nonautoimmune hyperthyroidism and sporadic congenital hyperthyroidism. We report two cases of hyperthyroidism caused by germline TSHR mutation who presented with exessive sweating and no evidence of autoimmune thyroid disease. They were brothers and their mother had undergone thyroidectomy because of hyperthyroidism. Direct sequencing of the polymerase chain reaction-amplified exon 10 of the TSHR genomic DNA revealed a transition of GCT to GTT, resulting in an exchange of alanine 627 to valine in the patients and their mother. This might be a novel mutation or polymorphism, but we did not perform any functional gene study. But considering the clinical profiles, we can conclude that hyperthyroidism of these two brothers might come from the point mutation described above.

키워드

참고문헌

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