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与促甲状腺素受体抗体相关的萎缩性甲状腺功能减退症

Atrophic hypothyroidism associated with thyrotropin receptor antibodies.

作者信息

Toyoshima Marcos Tadashi Kakitani, Macedo Camila Regina Pereira Batista de, Magalhaes Isabelle Pinheiro Amaro de, Souza Janaina Almeida de, Rocha Giulianno Dias da, Marui Suemi

机构信息

Endocrinology Service, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

Faculdade de Medicina de Jundiaí, Jundiaí, SP, Brazil.

出版信息

Einstein (Sao Paulo). 2025 Sep 1;23:eRC1400. doi: 10.31744/einstein_journal/2025RC1400. eCollection 2025.

Abstract

Hypothyroidism is most frequently caused by Hashimoto's thyroiditis. While thyrotropin receptor antibodies are well-known in Graves' disease-induced hyperthyroidism, their role in hypothyroidism is emerging. We report the case of a 37-year-old woman with facial and periorbital edema, weight gain, and hoarseness suggestive of hypothyroidism. Elevated thyroid stimulating hormone (TSH; 131mIU/L) and decreased free thyroxine (0.2ng/dL, 2.6pmol/L) levels confirmed this diagnosis. Laboratory findings showed dyslipidemia, impaired renal function, elevated creatine phosphokinase levels, and anemia. Despite negative results for thyroid peroxidase (TPO-Ab) and thyroglobulin (TgAb) antibodies, positive thyrotropin receptor antibodies (11IU/L) suggested an autoimmune etiology. Thyroid ultrasound confirmed atrophic thyroiditis. Levothyroxine treatment improved the symptoms and laboratory values. Two months after diagnosis, the patient became pregnant. Anemia relapsed during pregnancy, thyrotropin receptor antibodies levels normalized, and postpartum follow-up revealed stable thyroid function without affecting the newborn thyroid function. This case underscores the diagnostic challenges of negative TPOAb and TgAb hypothyroidism, which is often misdiagnosed as Hashimoto's thyroiditis, and highlights the need for functional discrimination in thyrotropin receptor antibodies assays. Thyrotropin receptor antibodies measurements can help in the differential diagnosis of rapidly evolving hypothyroidism in women with negative TPO-Ab and thyrotropin receptor antibodies levels, especially in women of childbearing age. Further research is essential to understand thyrotropin-binding inhibitory immunoglobulin-mediated hypothyroidism and to develop targeted therapies.

摘要

甲状腺功能减退最常见的病因是桥本甲状腺炎。促甲状腺素受体抗体在格雷夫斯病所致的甲状腺功能亢进中广为人知,但其在甲状腺功能减退中的作用正在逐渐显现。我们报告了一例37岁女性病例,该患者有面部和眶周水肿、体重增加及声音嘶哑,提示甲状腺功能减退。促甲状腺激素升高(131mIU/L)及游离甲状腺素降低(0.2ng/dL,2.6pmol/L)证实了这一诊断。实验室检查结果显示血脂异常、肾功能受损、肌酸磷酸激酶水平升高及贫血。尽管甲状腺过氧化物酶抗体(TPO-Ab)和甲状腺球蛋白抗体(TgAb)检测结果为阴性,但促甲状腺素受体抗体阳性(11IU/L)提示自身免疫病因。甲状腺超声证实为萎缩性甲状腺炎。左甲状腺素治疗改善了症状及实验室检查结果。诊断后两个月,患者怀孕。孕期贫血复发,促甲状腺素受体抗体水平恢复正常,产后随访显示甲状腺功能稳定,且未影响新生儿甲状腺功能。该病例强调了TPOAb和TgAb阴性的甲状腺功能减退的诊断挑战,这类疾病常被误诊为桥本甲状腺炎,并突出了促甲状腺素受体抗体检测中功能区分的必要性。促甲状腺素受体抗体检测有助于鉴别TPO-Ab和促甲状腺素受体抗体水平阴性的女性快速进展的甲状腺功能减退,尤其是育龄女性。进一步的研究对于理解促甲状腺素结合抑制性免疫球蛋白介导的甲状腺功能减退及开发靶向治疗方法至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e43f/12539823/bd3902c63588/2317-6385-eins-23-eRC1400-gf01.jpg

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