Sato Haruhiro, Tomita Yuichiro
Department of Medicine, Kanagawa Dental University, Yokosuka, Kanagawa, Japan.
Department of Pediatrics, Tokai University School of Medicine Hachioji Hospital, Hachioji, Tokyo, Japan.
Endocrinol Diabetes Metab Case Rep. 2018 Sep 25;2018:EDM180100. doi: 10.1530/EDM-18-0100.
Resistance to thyroid hormone (RTH), which is primarily caused by mutations in the thyroid hormone (TH) receptor beta (THRB) gene, is dominantly inherited syndrome of variable tissue hyposensitivity to TH. We herein describe a case involving a 22-year-old Japanese man with RTH and atrial fibrillation (AF) complaining of palpitation and general fatigue. Electrocardiography results revealed AF. He exhibited elevated TH levels and an inappropriately normal level of thyroidstimulating hormone (TSH). Despite being negative for anti-TSH receptor antibody, thyroid-stimulating antibody and anti-thyroperoxidase antibody, the patient was positive for anti-thyroglobulin (Tg) antibody. Genetic analysis of the THRB gene identified a missense mutation, F269L, leading to the diagnosis of RTH. Normal sinus rhythm was achieved after 1 week of oral bisoprolol fumarate (5 mg/day) administration. After 3 years on bisoprolol fumarate, the patient had been doing well with normal sinus rhythm, syndrome of inappropriate secretion of TSH (SITSH) and positive titer of anti-Tg antibody. Learning points: •• Atrial fibrillation can occur in patients with RTH. •• Only a few cases have been reported on the coexistence of RTH and atrial fibrillation. •• No consensus exists regarding the management of atrial fibrillation in patients with RTH. •• Administration of bisoprolol fumarate, a beta-blocker, can ameliorate atrial fibrillation in RTH.
甲状腺激素抵抗(RTH)主要由甲状腺激素(TH)受体β(THRB)基因突变引起,是一种对TH具有可变组织低敏感性的显性遗传综合征。我们在此描述一例涉及一名22岁日本男性的病例,该患者患有RTH和心房颤动(AF),主诉心悸和全身乏力。心电图结果显示为AF。他的TH水平升高,而促甲状腺激素(TSH)水平却异常正常。尽管抗TSH受体抗体、促甲状腺激素刺激抗体和抗甲状腺过氧化物酶抗体均为阴性,但该患者的抗甲状腺球蛋白(Tg)抗体呈阳性。对THRB基因的遗传分析发现了一个错义突变F269L,从而确诊为RTH。口服富马酸比索洛尔(5毫克/天)1周后恢复为正常窦性心律。服用富马酸比索洛尔3年后,患者窦性心律正常、促甲状腺激素不适当分泌综合征(SITSH)及抗Tg抗体滴度阳性,情况良好。学习要点:••RTH患者可能发生心房颤动。••关于RTH与心房颤动并存的报道仅有少数病例。••对于RTH患者心房颤动的治疗尚无共识。••使用β受体阻滞剂富马酸比索洛尔可改善RTH患者的心房颤动。