一名患有 COVID-19、垂体微腺瘤和对奥曲肽长效释放试验反应异常的患者对甲状腺激素抵抗的诊断具有挑战性。

IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM
Cristian Petolicchio, Sara Brasili, Stefano Gay, Francesco Cocchiara, Irene Campi, Luca Persani, Lara Vera, Diego Ferone, Federico Gatto
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引用次数: 0

摘要

摘要:甲状腺激素抵抗综合征(RTHβ)并不常见,临床上需要高度怀疑并进行特殊检查,以得出准确诊断,避免不必要且可能有害的治疗。我们报告了一例因SARS-CoV-2感染和心房颤动、甲状腺激素升高和促甲状腺激素(TSH)不受抑制而转诊至我科的年轻男性患者的病例,并为其开具了抗甲状腺治疗处方。病史中报告有情绪障碍。由于患者是领养的,因此家族史不详。甲状腺特异性抗体检测不到,甲状腺超声显示甲状腺正常,无结节。SARS-CoV-2感染缓解后,诊断工作继续进行,垂体磁共振成像显示有一小块区域可归类为微腺瘤。由于心房颤动,禁忌进行 T3 试验。奥曲肽长效释放剂(LAR)检测显示,首次用药后游离甲状腺激素水平有所下降,这与存在分泌促甲状腺激素的垂体瘤相吻合,但在随后两次注射奥曲肽长效释放剂后,该反应消失了。事实上,遗传学调查发现了 THRβ 基因的杂合性变异(Pro453Ser),因此诊断为 RTHβ,并开始使用三碘甲状腺醋酸进行治疗。在感染 SARS-CoV-2 2 年后,患者仍在我们的门诊继续接受随访,无需其他医疗干预措施:学习要点:RTHβ是一种罕见的遗传综合征,其特点是甲状腺功能检测结果不一致,观察到的激素水平与患者预期的体征和症状不一致。TR-ß依赖组织(垂体、下丘脑、肝脏和神经敏感上皮细胞)的甲状腺激素缺乏和TR-α依赖组织(心脏、骨骼、骨骼肌和大脑)的甲状腺激素过剩可能在同一个人身上同时存在。即使出现相同的变异,临床表现也可能不同,这表明其他遗传和/或表观遗传因素可能在决定患者的表型方面发挥了作用。将 RTHβ 与分泌 TSH 的垂体瘤区分开来非常困难,尤其是在诊断过程中发现同时存在垂体腺瘤时。注射长效体生长抑素类似物有助于区分这两种疾病,但重要的是要检测甲状腺激素剂量是否受到干扰,以避免误诊。基因检测是防止不必要的、可能有害的治疗的基础。事实证明,使用三碘甲状腺乙酸进行药物治疗可以有效减少甲状腺激素过量并控制症状。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Challenging diagnosis of resistance to thyroid hormone in a patient with COVID-19, pituitary microadenoma and unusual response to octreotide long-acting release test.

Summary: The resistance to thyroid hormone syndrome (RTHβ) occurs uncommonly and requires a high level of clinical suspicion and specific investigations to reach a precise diagnosis and to avoid unnecessary and potentially harmful therapies. We report a case of a young male patient referred to our unit for SARS-CoV-2 infection and atrial fibrillation with elevated thyroid hormones and non-suppressed thyroid-stimulating hormone (TSH), for which antithyroid therapy was prescribed. A mood disorder was reported in the medical history. The family history was unknown as the patient was adopted. Thyroid-specific antibodies were undetectable, and thyroid ultrasound revealed a normal thyroid gland without nodules. After the resolution of SARS-CoV-2 infection, the diagnostic workup continued, and the pituitary MRI revealed a small area ascribable to a microadenoma. Due to atrial fibrillation, the execution of the T3 test was contraindicated. The octreotide long-acting release (LAR) test showed an initial reduction of free thyroid hormones levels at first administration, which was consistent with the presence of a TSH-secreting pituitary tumour, although an escape from the response was observed after the following two injections of octreotide LAR. Indeed, the genetic investigation revealed a variant in heterozygosity of the THRβ gene (Pro453Ser), thus leading to an RTHβ diagnosis, and, therefore, medical treatment with triiodothyroacetic acid was initiated. After 2 years from the SARS-CoV-2 infection, the patient continues the follow-up at our outpatient clinic, and no other medical interventions are needed.

Learning points: RTHβ is a rare genetic syndrome characterised by discrepant thyroid function tests and by a dissociation between the observed hormone levels and the expected patient signs and symptoms. Features of thyroid hormone deficiency in TR-ß dependent tissues (pituitary gland, hypothalamus, liver and neurosensitive epithelia), as well as thyroid hormone excess in TR-α-dependent tissues (heart, bone, skeletal muscle and brain), may coexist in the same individual. Clinical pictures can be different even when the same variant occurs, suggesting that other genetic and/or epigenetic factors may play a role in determining the patient's phenotype. Differentiating RTHβ from a TSH-secreting pituitary tumour is very difficult, especially when a concomitant pituitary adenoma is detected during diagnostic workup. The injection of long-acting somatostatin analogues can help differentiate the two conditions, but it is important to detect any interference in the dosage of thyroid hormones to avoid an incorrect diagnosis. Genetic testing is fundamental to prevent unnecessary and potentially harmful therapies. Medical treatment with triiodothyroacetic acid was demonstrated to be effective in reducing thyroid hormone excess and controlling symptoms.

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来源期刊
CiteScore
1.50
自引率
0.00%
发文量
142
审稿时长
9 weeks
期刊介绍: Endocrinology, Diabetes & Metabolism Case Reports publishes case reports on common and rare conditions in all areas of clinical endocrinology, diabetes and metabolism. Articles should include clear learning points which readers can use to inform medical education or clinical practice. The types of cases of interest to Endocrinology, Diabetes & Metabolism Case Reports include: -Insight into disease pathogenesis or mechanism of therapy - Novel diagnostic procedure - Novel treatment - Unique/unexpected symptoms or presentations of a disease - New disease or syndrome: presentations/diagnosis/management - Unusual effects of medical treatment - Error in diagnosis/pitfalls and caveats
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