Annals of Pediatric Endocrinology and Metabolism

  • 제23권4호
  • /
  • Pages.235-239
  • /
  • 2018
  • /
  • 2287-1012(pISSN)
  • /
  • 2287-1292(eISSN)
대한소아내분비학회 (Korean Society of Pediatric Endocrinology)
권호 표지
DOI QR코드

DOI QR Code

Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene

  • Cho, Won Kyoung (Department of Pediatrics, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Ahn, Moon-Bae (Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Jang, Woori (Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Chae, Hyojin (Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Kim, Myungshin (Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Suh, Byung-Kyu (Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea)
  • 투고 : 2018.11.18
  • 심사 : 2018.12.14
  • 발행 : 2018.12.30
⟨ 이전 논문 다음 논문 ⟩

초록

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.

키워드

참고문헌

  1. Kopp P, van Sande J, Parma J, Duprez L, Gerber H, Joss E, et al. Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N Engl J Med 1995;332:150-4. https://doi.org/10.1056/NEJM199501193320304
  2. Gozu HI, Lublinghoff J, Bircan R, Paschke R. Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism. Mol Cell Endocrinol 2010;322:125-34. https://doi.org/10.1016/j.mce.2010.02.001
  3. Agretti P, De Marco G, Biagioni M, Iannilli A, Marigliano M, Pinchera A, et al. Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene. Eur J Pediatr 2012;171:1133-7. https://doi.org/10.1007/s00431-012-1702-z
  4. Aycan Z, Agladioglu SY, Ceylaner S, Cetinkaya S, Bas VN, Kendirici HN. Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene. J Clin Res Pediatr Endocrinol 2010;2:168-72. https://doi.org/10.4274/jcrpe.v2i4.168
  5. van der Kaay DC, Wasserman JD, Palmert MR. Management of neonates born to mothers with Graves' disease. Pediatrics 2016;137.
  6. de Roux N, Polak M, Couet J, Leger J, Czernichow P, Milgrom E, et al. A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. J Clin Endocrinol Metab 1996;81:2023-6.
  7. Borgel K, Pohlenz J, Koch HG, Bramswig JH. Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val). Horm Res 2005;64:203-8.
  8. Nishihara E, Fukata S, Hishinuma A, Kudo T, Ohye H, Ito M, et al. Sporadic congenital hyperthyroidism due to a germline mutation in the thyrotropin receptor gene (Leu 512 Gln) in a Japanese patient. Endocr J 2006;53:735-40. https://doi.org/10.1507/endocrj.K06-090
  9. Bircan R, Miehle K, Mladenova G, Ivanova R, Ivanova R, Sarafova A, et al. Multiple relapses of hyperthyroidism after thyroid surgeries in a patient with long term follow-up of sporadic non-autoimmune hyperthyroidism. Exp Clin Endocrinol Diabetes 2008;116:341-6. https://doi.org/10.1055/s-2007-1004566
  10. Kopp P, Jameson JL, Roe TF. Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene. Thyroid 1997;7:765-70. https://doi.org/10.1089/thy.1997.7.765
  11. Tonacchera M, Agretti P, Rosellini V, Ceccarini G, Perri A, Zampolli M, et al. Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene. Thyroid 2000;10:859-63. https://doi.org/10.1089/thy.2000.10.859
  12. Lavard L, Sehested A, Brock Jacobsen B, Muller J, Perrild H, Feldt-Rasmussen U, et al. Long-term follow-up of an infant with thyrotoxicosis due to germline mutation of the TSH receptor gene (Met453Thr). Horm Res 1999;51:43-6.
  13. Chester J, Rotenstein D, Ringkananont U, Steuer G, Carlin B, Stewart L, et al. Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene. J Pediatr Endocrinol Metab 2008;21:479-86.
  14. Gruters A, Schoneberg T, Biebermann H, Krude H, Krohn HP, Dralle H, et al. Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor. J Clin Endocrinol Metab 1998;83:1431-6.
  15. Schwab KO, Sohlemann P, Gerlich M, Broecker M, Petrykowski W, Holzapfel HP, et al. Mutations of the TSH receptor as cause of congenital hyperthyroidism. Exp Clin Endocrinol Diabetes 1996;104 Suppl 4:124-8.
  16. Holzapfel HP, Wonerow P, von Petrykowski W, Henschen M, Scherbaum WA, Paschke R. Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. J Clin Endocrinol Metab 1997;82:3879-84.
  17. Scaglia PA, Chiesa A, Bastida G, Pacin M, Domene HM, Gruneiro-Papendieck L. Severe congenital nonautoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene. Arq Bras Endocrinol Metabol 2012;56:513-8. https://doi.org/10.1590/S0004-27302012000800009
  18. de Roux N, Misrahi M, Chatelain N, Gross B, Milgrom E. Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene. Mol Cell Endocrinol 1996;117:253-6. https://doi.org/10.1016/0303-7207(95)03753-5
  19. Esapa CT, Duprez L, Ludgate M, Mustafa MS, Kendall-Taylor P, Vassart G, et al. A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis. Thyroid 1999;9:1005-10. https://doi.org/10.1089/thy.1999.9.1005
  20. Fuhrer D, Wonerow P, Willgerodt H, Paschke R. Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism. J Clin Endocrinol Metab 1997;82:4234-8.

피인용 문헌

  1. An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial non-autoimmune hyperthyroidism vol.25, pp.4, 2018, https://doi.org/10.6065/apem.2040076.038
  2. Extrathyroidal Manifestations of Persistent Sporadic Non-Autoimmune Hyperthyroidism in a 6-Year-Old Boy: A Case Report vol.11, pp.7, 2021, https://doi.org/10.3390/life11070713