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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제23권 제4호
- 발행연도
- 2018.1
- 수록면
- 235 - 239 (5page)
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초록· 키워드
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Most cases of congenital hyperthyroidism are autoimmune forms caused by maternal thyroid stimulating antibodies. Nonautoimmune forms of congenital hyperthyroidism caused by activating mutations of the thyrotropin receptor (TSHR) gene are rare. A woman gave birth to a boy during an emergency cesarean section at 33 weeks of gestation due to fetal tachycardia. On the 24th day of life, thyroid function tests were performed due to persistent tachycardia, and hyperthyroidism was confirmed. Auto-antibodies to TSHR, thyroid peroxidase, and thyroglobulin were not found. The patient was treated with propylthiouracil and propranolol, but hyperthyroidism was not well controlled. At 3 months of age, the patient had craniosynostosis and hydrocephalus, and underwent a ventriculoperitoneal shunt operation. Direct sequencing of the TSHR gene showed a heterozygous mutation of c.1899C>A (p.Asp633Glu) in exon 10. No mutations were discovered in any of the parents in a familial genetic study. We have reported a case of sporadic nonautoimmune congenital hyperthyroidism, by a missense mutation of the TSHR gene, for the first time in South Korea.
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참고문헌 (20)
참고문헌 신청
Kopp P / 1995 / Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene / N Engl J Med 332:150~154
Gozu HI / 2010 / Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism / Mol Cell Endocrinol 322:125~134
Agretti P / 2012 / Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene / Eur J Pediatr 171:1133~1137
Aycan Z / 2010 / Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene / J Clin Res Pediatr Endocrinol 2:168~172
van der Kaay DC / 2016 / Management of neonates born to mothers with Graves'disease / Pediatrics 137
Gozu HI / 2010 / Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism / Mol Cell Endocrinol 322:125~134
Agretti P / 2012 / Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene / Eur J Pediatr 171:1133~1137
Aycan Z / 2010 / Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene / J Clin Res Pediatr Endocrinol 2:168~172
van der Kaay DC / 2016 / Management of neonates born to mothers with Graves'disease / Pediatrics 137
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