山东大学学报 (医学版) ›› 2023, Vol. 61 ›› Issue (6): 113-116.doi: 10.6040/j.issn.1671-7554.0.2023.0048
• 病例报道 • 上一篇
曹广磊1,李季2,闫飞1,林鹏1,侯为开1,侯新国1,陈丽1
中图分类号:
[1] Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high pbi: possible target organ refractoriness to thyroid hormone[J]. J Clin Endocrinol Metab, 1967, 27(2): 279-294. [2] Pappa T, Refetoff S. Resistance tot hyroid hormone beta: a focused review[J]. Front Endocrinol, 2021,12: 656551. doi:10.3389/fendo.2021.656551. [3] Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone[J]. Endocr Rev, 1993,14(3): 348-399. [4] 邵飞,张晓文,沈山梅.THRβ基因R383H点突变致甲状腺激素抵抗综合征1例[J].浙江医学, 2018, 40(23): 2597-2598. [5] Furman AE, Dumitrescu AM, Refetoff S, et al. Early diagnosis and treatment of an infant with a novel thyroid hormone receptor α gene(pc380sfsx9)mutation[J]. Thyroid, 2021,31(6): 1003-1005. [6] Vela A, Pérez-Nanclares G, Ríos I, et al. Thyroid hormone resistance from newborns to adults: a spanish experience[J]. J Endocrinol Invest, 2019, 42(8): 941-949. [7] Sun H, Cao L, Zheng R, et al. Update on resistance to thyroid hormone syndromeβ[J]. Ital J Pediatr, 2020, 46(1): 168. doi:10.1186/s13052-020-00929-x. [8] Censi S, Barollo S, Watutantrige-Fernando S, et al. A novel thyroid hormone receptor beta mutation(g357r)in a family with resistance to thyroid hormone beta: extending the borders of the "hot" region in the thrb gene[J]. Thyroid, 2019, 29(3): 449-451. [9] Lai HP, Chen MH. Atrial fibrillation with heart failure in a case with resistance to thyroid hormone due to a rare thyroid hormone receptor β gene mutation[J]. Int J Mol Sci, 2022, 23(23): 15241. doi:10.3390/ijms232315241. [10] Ortiga-Carvalho TM, Sidhaye AR, Wondisford FE. Thyroid hormone receptors and resistance to thyroid hormone disorders[J]. Nat Rev Endocrinol, 2014, 10(10): 582-591. [11] Brent GA. Mechanisms of thyroid hormone action[J]. J Clin Invest, 2012, 122(9): 3035-3043. [12] Pappa T, Refetoff S. Human genetics of thyroid hormone receptor beta: resistance to thyroid hormone beta(RTHβ)[J]. MethodsMolBiol, 2018,1801: 225-240. doi: 10.1007/978-1-4939-7902-8_18. [13] 党萍萍,奚悦,金婷,等.β型甲状腺激素抵抗综合征患者临床特点分析[J].中国全科医学, 2020, 23(36): 4635-4639. DANG Pingping, XI Yue, JIN Ting, et al.Clinical characteristics of patients with resistance to thyroid hormone β [J]. Chinese General Practice, 2020, 23(36): 4635-4640. [14] Macchia E, Lombardi M, Raffaelli V, et al. Clinical and genetic characteristics of a large monocentric series of patients affected by thyroid hormone(th)resistance and suggestions for differential diagnosis in patients without mutation of th receptor β[J]. Clin Endocrinol(Oxf), 2014, 81(6): 921-928. [15] Beck-Peccoz P, Giavoli C, Lania A. A 2019 update on tsh-secreting pituitary adenomas[J]. J Endocrinol Invest, 2019, 42(12): 1401-1406. [16] Campi I, Covelli D, Moran C, et al. The differential diagnosis of discrepant thyroid function tests: insistent pitfalls and updated flow-chart based on a long-standing experience[J]. Front Endocrinol, 2020, 11: 432. doi:10.3389/fendo.2020.00432. [17] 李佳琦,刘碧秀,魏懿,等.甲状腺激素抵抗合并垂体无功能微腺瘤2例报道[J].四川大学学报(医学版), 2019, 50(3): 456. [18] 柴晓峰,邓侃.中国垂体促甲状腺激素腺瘤诊治专家共识(2017)[J].全科医学临床与教育, 2017, 15(3): 245-247. [19] Kirsch P, Kunadia J, Shah S, et al. Metabolic effects of prolactin and the role of dopamine agonists: a review[J]. Front Endocrinol, 2022,13: 1002320. doi:10.3389/fendo.2022.1002320. [20] Sharma LK, Sharma N, Gadpayle AK, et al. Prevalence and predictors of hyperprolactinemia in subclinical hypothyroidism[J]. Eur J Intern Med, 2016, 35: 106-110. doi: 10.1016/j.ejim.2016.07.012. [21] 王晓蓉,王芳,朱绪华,等.TRβ基因突变致甲状腺激素抵抗综合征并桥本甲状腺炎1例及文献复习[J].精准医学杂志, 2020, 35(1): 69-71. WANG Xiaorong, WANG Fang, ZHU Xuhua, et al. Thyroid hormone resistance syndrome with hashimotos thyroidtis caused by thyroid hormone receptor β gene mutation:a case report and literature review[J]. Journal of Precision Medicine, 2020, 35(1): 69-71. [22] Chen H, Wang Z, Yu S, et al. 3,3',5-triiodothyroacetic acid(triac)induces embryonic ζ-globin expression via thyroid hormone receptor α[J]. J Hematol Oncol, 2021,14(1): 99. doi:10.1186/s 13045-021-01108-z. [23] Fang Y, Liu T, Hou H, et al. Resistance to thyroid hormone beta coexisting with papillary thyroid carcinoma-two case reports of a thyroid hormone receptor beta gene mutation and a literature review[J]. Front Genet, 2022,13: 1014323. doi:10.3389/fgene.2022.1014323. [24] Dong Q, Gong CX, Gu Y, et al. A new mutation in the thyroid hormone receptor gene of a Chinese family with resistance to thyroid hormone[J]. Chin Med J, 2011, 124(12): 1835-1839. |
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