Case Reports in Endocrinology最新文献

Resistance to thyroid hormone (RTH) is a rare clinical syndrome characterized by reduced tissue responsiveness to thyroid hormone (TH), typically presenting with elevated TH levels without suppression of thyrotropin (TSH). In most cases, RTH is caused by mutations in the TH receptor beta (THRB) gene. While treatment is generally unnecessary due to preserved endogenous compensation, this physiological balance may be disrupted in the presence of compromised thyroidal reserve. We report two unrelated female patients with genetically confirmed RTH and coexisting thyroid disease. The first, an 18-year-old with Hashimoto's thyroiditis, required unusually high doses of levothyroxine to maintain TSH within the normal range and was later diagnosed with RTHβ. The second, a 54-year-old with known RTH, developed tachyarrhythmia and amiodarone-induced hypothyroidism, complicating TH replacement. In both cases, the coexistence of RTH and acquired thyroid disease obscured the clinical picture and posed significant therapeutic challenges. These cases illustrate how superimposed thyroid pathology can destabilize the typically compensated state of RTH, underscoring the importance of maintaining a high index of suspicion in patients with persistent, unexplained thyroid function abnormalities. Early recognition, personalized management, and lifelong follow-up are essential to ensure optimal outcomes and avoid unnecessary interventions.

Although rare, vitamin D toxicity is a serious condition that commonly results from excessive self-medication. Clinical manifestations range from asymptomatic hypercalcemia to severe, life-threatening complications. We present the case of a previously healthy 3-year-old child who accidentally ingested 800,000 IU of vitamin D3 (cholecalciferol) and remained asymptomatic. Management included intravenous hydration, oral prednisolone, and strict dietary calcium restriction, alongside regular monitoring of serum calcium and vitamin D levels. The patient was discharged after 11 days and showed normalized laboratory parameters during a 3-month follow-up. This case underscores the importance of early diagnosis, immediate cessation of vitamin D intake, and conservative medical management in preventing complications. It also highlights the critical need for public education regarding the safe use of dietary supplements, particularly in pediatric populations.

Background: Differentiated high-grade thyroid carcinoma (DHGTC) is a recently recognized entity introduced in the 2022 World Health Organization (WHO) Classification of Endocrine and Neuroendocrine Tumors. The prognosis is intermediate between differentiated thyroid carcinoma, which generally has a favorable outcome, and anaplastic thyroid carcinoma, which carries a poor prognosis. Given its recent classification, standardized management guidelines and long-term follow-up data are lacking.

Case presentation: We report a case of a 52-year-old male who presented with a protruding cranial mass with overlying wound dehiscence. Initial pathological analysis of the mass revealed metastatic thyroid carcinoma. Further workup identified a 7 cm × 5 cm mass at the right vertex, invading the right parietal bone and extending into the epidural space. Additionally, a large thyroid mass was observed, causing destruction of the manubrium sternum and upper ribs, with subcutaneous and superior mediastinal extension. The patient underwent cranial mass resection and biopsy of the superior mediastinal mass. Histopathological examination confirmed DHGTC with papillary features and tall cell morphology, involving the dura mater, parietal bone, and scalp. The superior mediastinal biopsy also demonstrated high-grade thyroid carcinoma. The patient had a history of autism spectrum disorder with nonverbal communication. Given the advanced disease stage, the family opted for comfort care.

Conclusion: This case highlights the new histopathological criteria for DHGTC and its unusual presentation, emphasizing the challenges in management and prognosis of this newly defined entity. Clinicians should consider DHGTC in atypical extracranial metastatic presentations to facilitate early diagnosis and multidisciplinary management.

Myxedema coma (MC) is a rare and life-threatening complication of uncontrolled hypothyroidism. We report a 46-year-old Hispanic female who presented with hemodynamic instability and hyponatremia. She was initially diagnosed with adrenal insufficiency (AI). Further evaluation revealed myxedema features and panhypopituitarism, with partial empty Sella. A thorough history was notable for postpartum hemorrhage 18 years prior and followed by failure of lactation and secondary amenorrhea which is consistent with Sheehan's syndrome. Our case highlights the delayed diagnosis of central hypothyroidism with normal thyroid stimulating hormone levels without checking free thyroxine level and emphasizing the importance of comprehensive evaluation in similar presentations.

Context: The phenotypic spectrum of thyroid-stimulating hormone (TSH) receptor (TSHR) pathogenic variants is broad. Germline variants causing constitutive TSHR activation in the absence of TSH result in familial nonautoimmune hyperthyroidism (FNAH) or sporadic nonautoimmune hyperthyroidism (SNAH). This hyperthyroid state, if present in utero or early childhood, can impact multisystem development. The consequences of severe early-onset hyperthyroidism have not been well described.

Clinical cases: Here, we report two unrelated individuals, each with a distinct monoallelic de novo TSHR pathogenic variant leading to severe congenital hyperthyroidism that required multistep thyroidectomies. Both patients had thyroid hypertrophy and vulnerable anatomic positioning of recurrent laryngeal nerves (RLNs), complicating surgical management. Case 1 is a 4-year-old boy with craniosynostosis and mitral valve dysplasia with SNAH caused by a heterozygous TSHR variant c.1515C >A; p.S505R. Hyperthyroidism was detected with thyroid storm at 17 months of age. Case 2 is a 9-year-old girl with SNAH and craniosynostosis from a novel heterozygous TSHR variant c.1897G >C; p.D633H identified in the neonatal period.

Conclusion: The severe hyperthyroidism and complex course seen in these individuals contrast with previously reported cases. These cases highlight the wide phenotypic spectrum of TSHR activating variants and the persistent clinical sequelae of SNAH.

This case report discusses a rare instance of acute granulomatous thyroiditis resulting from brucellosis. A 47-year-old female cattle farmer presented with painful neck swelling and systemic symptoms. Initial investigations suggested a potential malignancy, but further testing, such as serological tests, pathology and imaging revealed brucellosis as the underlying cause. The patient underwent surgical intervention for abscess drainage and antibiotic therapy for brucellosis and showed significant clinical improvement. This case underscores the need for awareness of Brucella melitensis, a zoonotic infection, as a differential diagnosis in thyroid conditions, contributing to the understanding of its varied manifestations and complications, especially in endemic regions.

Background: Fibrous dysplasia (FD) is a rare congenital bone disease. Denosumab, a monoclonal antibody targeting nuclear factor kappa-B ligand (RANKL), suppresses osteoclast activity and exhibits therapeutic potential for FD. Case Presentation: We present the case of an adult female patient diagnosed with FD who had undergone 7 treatment cycles of denosumab (120 mg/dose, sc.) with a cumulative dose of 840 mg. After discontinuing denosumab for 7 months, the patient experienced a crisis of rebound hypercalcemia. Conclusion: Although, rare reports of hypercalcemia induced by discontinuation of denosumab are primarily seen in adolescents. By reporting this case, we aim to alert clinicians to the risk of rebound hypercalcemia in adult patients with FD undergoing denosumab treatment.

We report a case of Klinefelter syndrome (KS) diagnosed in adulthood, emphasizing the impact of phenotypic variability and the declining reliance on physical examination in delayed recognition. A 27-year-old male with obesity, low libido, and biochemical and clinical primary hypogonadism was found to have 47, XXY karyotype, consistent with KS. His hypogonadism was initially attributed to obesity and overlooked, despite classic signs of a micropenis and small testes. The case highlights the importance of physical examination, comprehensive history, and clinician awareness in diagnosing KS, particularly in atypical presentations. KS is associated with increased risks of osteoporosis, cardiovascular disease, and psychosocial challenges. Raising awareness and focusing on physical examinations can improve diagnostic timing and reduce complications.

Introduction: Thyroid gland fibrosarcomas are very rare tumors, with only very few cases have been reported in the literature. Their similarity to anaplastic thyroid cancer poses a diagnostic challenge, often leading to misdiagnosis. Case Report: We report the case of an 87-year-old female with a history of left thyroid nodule who underwent a left lobectomy and subsequently, received levothyroxine therapy. She presented with a rapidly growing mass on the right thyroid gland. Her thyroid function was normal. Ultrasound revealed an ill-defined hypoechoic mass measuring 4 cm on the right thyroid. Fine-needle aspiration biopsy (FNAB) was performed, and cytology indicated Bethesda VI for anaplastic thyroid carcinoma. After the total thyroidectomy, the surgical pathological examination revealed a high-grade fibrosarcoma with extension into the strap muscle. Lymphovascular and perineural invasion was noted. Immunohistochemical staining showed positivity for smooth muscle actin (SMA), and negative for paired-box gene 8 (PAX8), transcription factor 1 (TTF-1), thyroglobulin, and epithelium markers (AE1/AE3). Following surgery, adjuvant therapy with radiation and chemotherapy using ifosfamide was administered. However, the disease progressed with lung metastasis. The treatment was changed to administration of pazopanib, resulting in dramatic improvement of lung metastasis. However, the disease continued to progress, and patient passed away within 2 years after treatment initiation. Conclusions: Although fibrosarcoma of the thyroid gland is exceedingly rare, it should be considered in the differential diagnosis of anaplastic thyroid carcinoma. Immunohistochemistry (IHC) plays a crucial role in supporting the diagnosis. A multidisciplinary approach is essential for its management. In addition to surgery, emerging adjuvant therapies with kinase inhibitors have shown promise in improving patient survival.