Hyperthyroidism may be caused by the development of primary or metastatic thyroid carcinoma. The aim of the present study was to collect recently reported cases of hyperfunctioning thyroid carcinoma in order to analyze its pathological characteristics, diagnostic procedures and treatment strategies. A PubMed () search was performed for studies published between January 1990 and July 2017. Full-text articles were identified using the terms, ‘hyperfunctioning thyroid carcinoma/cancer’, ‘malignant hot/toxic thyroid nodule’, or ‘hyperfunctioning papillary/follicular/Hürthle thyroid carcinoma’. Original research papers, case reports and review articles were included. Among all thyroid carcinoma cases included in the present study, the prevalence of follicular thyroid carcinoma (FTC) was ~10%; however, the prevalence of FTC among hyperfunctioning thyroid carcinomas was markedly higher (46.5% in primary and 71.4% in metastatic disease). The size of hyperfunctioning thyroid tumors was considerably larger compared with that of non-hyperfunctioning thyroid tumors, with a mean size of 4.25±2.12 cm in primary hyperfunctioning thyroid carcinomas. In addition, in cases of metastatic hyperfunctioning thyroid carcinoma, tumor metastases were widespread or large in size. The diagnosis of primary hyperfunctioning thyroid carcinoma is based on the following criteria: i) No improvement in thyrotoxicosis following radioactive iodine (RAI) treatment; ii) development of hypoechoic solid nodules with microcalcifications on ultrasound examination; iii) increase in tumor size over a short time period; iv) fixation of the tumor to adjacent structures; and v) signs/symptoms of tumor invasion. The diagnosis of metastatic hyperfunctioning thyroid carcinoma should be considered in patients suffering from thyrotoxicosis who present with a high number of metastatic lesions (as determined by whole-body scanning), or a history of total thyroidectomy. Surgery is the first-line treatment option for patients with primary hyperfunctioning thyroid carcinoma, as it does not only confirm the diagnosis following pathological examination, but also resolves thyrotoxicosis and is a curative cancer treatment. RAI is a suitable treatment option for patients with hyperfunctioning thyroid carcinoma who present with metastatic lesions.

Background Primary congenital hypothyroidism (CH) is a common endocrine and metabolic disease. Various genetic factors, including the thyroid hormone receptor (TSHR), play an important role in CH. Aim To explore the occurrence of pathogenic TSHR variants in CH. Methods We searched published articles in PubMed, Web of Science, and Cochrane Library databases, from the establishment of the database to September 26, 2021. Studies with sequencing partial or full exons of TSHR in CH patients were included. Gene polymorphism was excluded. Results A total of 66 articles (44 case-control studies and 22 case reports) were selected from the database. Though case-control studies, we found the incidence of pathogenic TSHR variants were not rare (range from 0% to 30.6%) and varied greatly in different countries and race. The pathogenic genotypes varied in different regions. All the variants were “loss-of-function” mutations, in which the p.(Arg450His) variant was the most common variant. In addition, we analyzed the case reports and found that CH patients with a family genetic background expressed homozygous genotypes. Homozygotes had more obvious symptoms of hypothyroidism and higher risk of comorbidities than heterozygotes. Conclusion Pathogenic TSHR variants are not uncommon cause of the CH, especially in the Arabs. The role of TSHR gene detection in the treatment of children with CH needs to be further studied.

The aim of the present study was to report a rare case of dyspnea caused by rapid growth of intratracheal lymphoma in the 2 weeks following thyroid surgery. A 53-year-old male patient underwent a right thyroidectomy due to tracheal compression by a mass of the right thyroid lobe. However, 2 weeks after the surgery, the patient developed dyspnea, which was managed by tracheotomy. An urgent computed tomography scan revealed that the soft tissue of the upper trachea was significantly thickened compared with prior to surgery, resulting in narrowing of the airway. Postoperative pathology revealed right thyroid lymphoma, and the final diagnosis was intratracheal lymphoma. The intratracheal mass regressed after chemotherapy combined with rituximab. We herein review the diagnostic and treatment process of this case of dyspnea, and analyze the outcome, in order to provide a reference for the timely diagnosis and treatment of patients developing dyspnea following thyroid surgery.