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[特纳综合征患者的甲状腺毒症:放射性碘治疗]

[Thyrotoxicosis in a patient with Turner syndrome: radioactive iodine therapy].

作者信息

Guseinova R M, Prosvirnina A A, Korchagina M O, Trukhin A A, Sheremeta M S

机构信息

Endocrinology Research Centre.

I.M. Sechenov First Moscow State Medical University.

出版信息

Probl Endokrinol (Mosk). 2022 Jul 25;68(6):49-58. doi: 10.14341/probl13132.

Abstract

Turner syndrome (TS) is a chromosomal disorder affecting female and characterized by complete or partial monosomy of the X chromosome. These genetic changes lead to the abnormalities in growth and development and increase the risk of autoimmune diseases, including those affecting the thyroid. Thyroid pathology in TS may include autoimmune thyroiditis, hypothyroidism, thyrotoxicosis (Graves disease, AIT in the hyperthyroid state).Thyrotoxicosis is the clinical syndrome of excess circulating thyroid hormones. One of the main causes of thyrotoxicosis is Graves' disease (GD), an organ-specific autoimmune disease caused by the production of stimulating thyrotropin receptor antibodies. There are three treatment options for thyrotoxicosis: anti-thyroid drugs, radioactive iodine and thyroidectomy. A personalized approach to disease management is especially important in cases of genetic diseases.We present a clinical case of a patient with TS and GD, who has been referred to a radiologist at the Department of Radionuclide Therapy of Endocrinology Research Center. The patient was diagnosed with congenital hypothyroidism at neonatal screening, but thyroid hormones therapy was initiated aged three. Based on the survey, GD was diagnosed aged twenty one. Anti-thyroid drug therapy was started, which resulted in toxic hepatitis. Taking into account intolerance to anti-thyroid drugs, radioiodine therapy has been recommended, which led to hypothyroidism.

摘要

特纳综合征(TS)是一种影响女性的染色体疾病,其特征为X染色体完全或部分单体性。这些基因变化导致生长发育异常,并增加自身免疫性疾病的风险,包括影响甲状腺的疾病。TS中的甲状腺病变可能包括自身免疫性甲状腺炎、甲状腺功能减退、甲状腺毒症(格雷夫斯病、甲状腺功能亢进状态下的自身免疫性甲状腺炎)。甲状腺毒症是循环甲状腺激素过多的临床综合征。甲状腺毒症的主要原因之一是格雷夫斯病(GD),这是一种由刺激性促甲状腺素受体抗体产生引起的器官特异性自身免疫性疾病。甲状腺毒症有三种治疗选择:抗甲状腺药物、放射性碘和甲状腺切除术。在遗传病病例中,个性化的疾病管理方法尤为重要。我们介绍了一名患有TS和GD的患者的临床病例,该患者被转诊至内分泌研究中心放射性核素治疗科的一名放射科医生处。该患者在新生儿筛查时被诊断为先天性甲状腺功能减退,但在三岁时开始进行甲状腺激素治疗。根据检查,该患者在21岁时被诊断为GD。开始使用抗甲状腺药物治疗,结果导致中毒性肝炎。考虑到对抗甲状腺药物不耐受,建议进行放射性碘治疗,这导致了甲状腺功能减退。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4367/9939966/db069857cd69/problendo-68-13132-g001.jpg

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