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

Q4 Medicine Problemy endokrinologii Pub Date : 2022-07-25 DOI:10.14341/probl13132
R M Guseinova, A A Prosvirnina, M O Korchagina, A A Trukhin, M S Sheremeta
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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.

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[特纳综合征患者的甲亢:放射性碘治疗]。
特纳综合征(TS)是一种影响女性的染色体疾病,其特征是X染色体完全或部分单体。这些基因变化会导致生长和发育异常,并增加患自身免疫性疾病(包括影响甲状腺的疾病)的风险。TS的甲状腺病变可能包括自身免疫性甲状腺炎、甲状腺功能减退症、甲状腺毒症(巴塞杜氏病、甲亢状态下的AIT)。引起甲亢的主要原因之一是巴塞杜氏病(GD),这是一种器官特异性自身免疫性疾病,由刺激性促甲状腺素受体抗体的产生引起。甲亢有三种治疗方法:抗甲状腺药物、放射性碘和甲状腺切除术。在遗传性疾病的病例中,个性化的疾病管理方法尤为重要。我们介绍了一例临床病例,患者患有TS和GD,内分泌学研究中心放射性核素治疗部的放射科医生将其转诊至该中心。该患者在新生儿筛查中被诊断为先天性甲状腺功能减退症,但在三岁时开始接受甲状腺激素治疗。根据调查,患者在 21 岁时被确诊为 GD。患者开始接受抗甲状腺药物治疗,结果导致中毒性肝炎。考虑到患者对抗甲状腺药物不耐受,建议患者接受放射性碘治疗,结果导致甲状腺功能减退。
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来源期刊
Problemy endokrinologii
Problemy endokrinologii Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
1.40
自引率
0.00%
发文量
59
期刊介绍: Since 1955 the “Problems of Endocrinology” (or “Problemy Endocrinologii”) Journal publishes timely articles, balancing both clinical and experimental research, case reports, reviews and lectures on pressing problems of endocrinology. The Journal is aimed to the most topical issues of endocrinology: to chemical structure, biosynthesis and metabolism of hormones, the mechanism of their action at cellular and molecular level; pathogenesis and to clinic of the endocrine diseases, new methods of their diagnostics and treatment. The Journal: features original national and foreign research articles, reflecting world endocrinology development; issues thematic editions on specific areas; publishes chronicle of major international congress sessions and workshops on endocrinology, as well as state-of-the-art guidelines; is intended for scientists, endocrinologists diabetologists and specialists of allied trade, general practitioners, family physicians and pediatrics.
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