Cho Won Kyoung, Ahn Moon-Bae, Jang Woori, Chae Hyojin, Kim Myungshin, Suh Byung-Kyu
Department of Pediatrics, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea, Suwon, Korea.
Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Korea.
Ann Pediatr Endocrinol Metab. 2018 Dec;23(4):235-239. doi: 10.6065/apem.2018.23.4.235. Epub 2018 Dec 31.
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.
大多数先天性甲状腺功能亢进症病例是由母体甲状腺刺激抗体引起的自身免疫性疾病。由促甲状腺素受体（TSHR）基因激活突变导致的非自身免疫性先天性甲状腺功能亢进症较为罕见。一名女性因胎儿心动过速在妊娠33周时紧急剖宫产下一名男婴。出生后第24天，因持续性心动过速进行了甲状腺功能检查，确诊为甲状腺功能亢进症。未发现TSHR、甲状腺过氧化物酶和甲状腺球蛋白自身抗体。患者接受丙硫氧嘧啶和普萘洛尔治疗，但甲状腺功能亢进症控制不佳。3个月大时，患者出现颅缝早闭和脑积水，并接受了脑室腹腔分流手术。TSHR基因直接测序显示外显子10存在c.1899C>A（p.Asp633Glu）杂合突变。家族遗传研究未在任何一位父母中发现突变。我们首次在韩国报道了一例由TSHR基因错义突变引起的散发性非自身免疫性先天性甲状腺功能亢进症病例。
