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

Korean Journal of Pediatrics 2005;48(3):337-341.
Published online March 15, 2005.
Hyperthyroidism Caused by a Mutation in the Thyrotropin Receptor Gene in Two Brothers
Jae Hyun Kim1, Sung Soo Lee1, Jung Sub Lim2, Choong Ho Shin1, Sei Won Yang1
1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
2Department of Pediatrics, Korea Cancer Center Hospital, Seoul, Korea
형제에서 발생한 갑상선 자극호르몬 수용체 유전자 돌연변이에 의한 갑상선 항진증 2례
김재현1, 이성수1, 임중섭2, 신충호1, 양세원1
1서울대학교 의과대학 소아과학교실
2원자력병원 소아과
Correspondence: 
Choong Ho Shin, Email: chshinpd@snu.ac.kr
Abstract
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.
Key Words: Hyperthyroidism , Thyrotropin receptor mutation


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