Guran Tulay, Turan Serap, Bircan Rlfat, Bereket Abdullah
Marmara University, Department of Pediatric Endocrinology and Diabetes, Istanbul, Turkey.
J Pediatr Endocrinol Metab. 2009 Oct;22(10):971-8. doi: 10.1515/jpem.2009.22.10.971.
Patients with pituitary resistance to thyroid hormones (PRTH) exhibit features of hyperthyroidism due to normal sensitivity to thyroid hormones in some of the peripheral tissues. There is a lack of information in the literature on the long-term follow-up and treatment of patients with PRTH. Here, we present long-term (9 years) clinical and biochemical follow-up of a patient with PRTH under the treatment of D-T4 initially (for 1.5 years) followed by TRIAC for 5.5 years. An 11.5 year-old girl was evaluated for goiter, palpitations, heat intolerance, sleep disorders, nervousness and frequent stools for 3 years. Her thyroid function tests were consistent with PRTH. Molecular analysis revealed a heterozygous missense mutation of the TRbeta gene at codon 243 in exon 7 (R243Q) and a silent mutation at codon 245 in the index patient and the mother who was later also diagnosed to have PRTH. The patient was started on D-T4 treatment since she exhibited clinical symptoms of hyperthyroidism. After 1.5 years, D-T4 treatment was switched to TRIAC which lasted 5.5 years. During the long course of both treatments, thyroid hormones, TSH, heart rate, thyroid size, and markers of peripheral thyroid status (SHBG and alkaline phosphatase) were monitored. It was concluded that compared to D-T4, TRIAC treatment is more effective in suppressing TSH and lowering thyroid hormone levels in PRTH. However, both treatments were unable to reduce thyroid size. The effects of treatment on symptomatology were also modest. Spontaneous improvement in symptoms was observed with age.
垂体性甲状腺激素抵抗（PRTH）患者由于部分外周组织对甲状腺激素敏感而表现出甲状腺功能亢进的特征。文献中缺乏关于PRTH患者长期随访和治疗的信息。在此，我们报告了一名PRTH患者的长期（9年）临床和生化随访情况，该患者最初接受D-T4治疗（1.5年），随后接受TRIAC治疗5.5年。一名11.5岁女孩因甲状腺肿大、心悸、不耐热、睡眠障碍、紧张和频繁腹泻3年接受评估。她的甲状腺功能检查结果与PRTH相符。分子分析显示索引患者及其母亲（后来也被诊断为PRTH）的TRbeta基因外显子7第243密码子处存在杂合错义突变（R243Q），第245密码子处存在沉默突变。由于该患者出现甲状腺功能亢进的临床症状，开始接受D-T4治疗。1.5年后，D-T4治疗改为TRIAC治疗，持续5.5年。在两种治疗的漫长过程中，监测了甲状腺激素、促甲状腺激素（TSH）、心率、甲状腺大小以及外周甲状腺状态标志物（性激素结合球蛋白和碱性磷酸酶）。得出的结论是，与D-T4相比，TRIAC治疗在抑制PRTH患者的TSH和降低甲状腺激素水平方面更有效。然而，两种治疗均未能缩小甲状腺大小。治疗对症状的影响也不大。随着年龄增长，症状出现了自发改善。
