Case Reports in Endocrinology最新文献

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.

Marine-Lenhart syndrome (MLS) is a rare condition characterized by the coexistence of hyperfunctioning thyroid nodules and Graves' disease (GD). The prevalence of thyroid nodules and thyroid cancer is higher in patients with GD. We report a case of 42-year-old female who presented with thyroid storm and found to have underlying GD. An initial thyroid ultrasound (US) revealed two nodules classified as TIRADS 3, whereas a repeat US after achieving euthyroidism, showed changes in the size and consistency of these nodules and identified a new nodule with classification of TIRADS 6 nodule. A 24-h radioactive iodine thyroid uptake scan demonstrated a diffuse increase uptake (75.1%) with one hyperfunctioning and two warm nodules, including the newly identified TIRADS 6 nodule. Fine-needle aspiration (FNA) biopsy confirmed papillary thyroid cancer (Bethesda VI) in a right (R) warm nodule (the TIRADS 6 nodule), while the other two nodules were benign (Bethesda II). The patient underwent a R hemithyroidectomy that was complicated by recurrent laryngeal nerve (RLN) injury. Pathology examination revealed unifocal papillary thyroid microcarcinoma with positive anterior surgical margin. The patient was furtherly treated with radioactive iodine therapy thyroid nodules with GD should be managed cautiously. Emerging evidence challenges the previous notion that hyperthyroidism provides protection against thyroid cancer. The association between GD and thyroid malignancy remains an area of ongoing investigation, with variable management strategies and prognostic implications reported in the literature.

Introduction: Mature cystic teratoma is a common benign ovarian germ cell tumor containing well-differentiated cells from three germ layers. Malignant transformation within these teratomas, such as papillary thyroid carcinoma, is extremely rare. Case Report: A 62-year-old asymptomatic woman was found to have a 5 cm hyperechoic lesion with an internal cystic component in her left ovary, suspected to be a mature teratoma. A total hysterectomy with bilateral salpingo-oophorectomy was performed, removing an unruptured, thin-walled ovarian tumor. Gross pathology revealed a uni-loculated solid-cystic lesion with smooth serosa, a homogenous tan solid part containing soft tan hair, and no papillary projections, adhesions, or ascites. Pathology identified a 2 cm papillary thyroid carcinoma (classic subtype) arising in a 4.7 cm mature teratoma, without lymphovascular invasion or ovarian surface involvement. Thyroid ultrasound, thyroid function tests, and PET imaging showed no abnormalities or metastasis. The role for total thyroidectomy and radioactive iodine ablation was discussed. After reviewing the pathology and confirming the absence of aggressive tumor behavior, shared decision-making led to opting against further treatment. Three years postoperatively, there was no recurrence or metastasis. Conclusions: This case describes the rare occurrence of papillary thyroid carcinoma within a mature ovarian teratoma. Currently, there is a lack of consensus on postoperative management. In selected cases with no evidence of metastasis or aggressive features, conservative management may be a reasonable option after thorough evaluation.

Background: Olfactory neuroblastoma (ONB) is a rare tumor of the nasal cavity. It may sometimes present with Cushing's syndrome due to adrenocorticotropic hormone (ACTH) secretion, making it challenging to diagnose. Methods: A 65-year-old man with hypokalemia and general weakness presented to the emergency department for Cushing's syndrome. Brain imaging revealed a tumor originating from the ethmoid bone with peritumoral cysts. The first biopsy suggested an ectopic corticotropic pituitary adenoma or a well-differentiated neuroendocrine tumor. However, the second biopsy confirmed an ONB, as suspected by the otolaryngologist. Treatment consisted of neoadjuvant chemotherapy, surgery, and radiotherapy. Results: The patient was cured of Cushing's syndrome and remained in remission at 10 years of follow-up. Conclusion: An unusual mode of discovering ONB is via the diagnosis of Cushing's syndrome caused by ACTH secretion, which may manifest throughout the course of follow-up. Imaging analysis and discussion with pathologists are essential to achieve an accurate diagnosis.

Graves' disease is an autoimmune thyroidopathy associated with hyperthyroidism and nonendocrine manifestations such as thyroid eye disease (TED), pretibial myxedema, and thyroid acropachy. Thyroid acropachy is an uncommon but debilitating condition, typically characterized by digital clubbing, soft tissue swelling, and periosteal new bone formation in the hands and feet. This condition often accompanies TED and dermopathy, but effective treatments remain elusive. The first documented case of thyroid acropachy successfully treated with teprotumumab, a monoclonal antibody targeting the insulin-like growth factor-1 receptor (IGF-1R), is reported here. A 49-year-old female with a history of Graves' disease developed severe musculoskeletal symptoms, including clubbing and periosteal new bone formation. Despite initial therapies with rituximab and intravenous immunoglobulin showing limited benefit, treatment with teprotumumab, primarily prescribed for TED, led to significant clinical and radiological improvement. After completing eight cycles of teprotumumab, the patient's musculoskeletal pain resolved, clubbing regressed, and radiologic findings of periosteal bone formation diminished. This case highlights the potential of teprotumumab as a novel therapeutic option for thyroid acropachy and suggests that IGF-1R plays a crucial role in its pathogenesis. While this report presents promising results, further studies are needed to confirm the efficacy of teprotumumab in treating thyroid acropachy and better understand its long-term effects on this rare condition.

Background: Fahr's syndrome is a rare neurodegenerative condition characterized by bilateral progressive calcification of the basal ganglia and other brain structures. Due to overlapping symptoms, it can be misdiagnosed as other neurological disorders. Case presentation: A 68-year-old man was presented to the emergency department with an exacerbating decline in the level of consciousness and dysarthria over a 20-day period. On admission, the laboratory examinations revealed a low level of calcium and parathyroid hormone. Brain imaging findings showed bilateral calcifications in the basal ganglia, pulvinar region of the thalami, and dentate nuclei. In addition, a prolonged QTc interval on his electrocardiogram (ECG) indicated hypocalcemia. After receiving calcium gluconate 10%, the calcium level and QTc interval stabilized, and the patient's level of consciousness gradually improved. Conclusion: Fahr's syndrome due to hypoparathyroidism should be suspected in any patient with neurological symptoms and hypocalcemia. Hence, early identification and management of hypoparathyroidism can prevent progression of calcification and improve patients' quality of life and prognosis.

Introduction: Jod-Basedow syndrome and iodine-induced hypothyroidism are rare but clinically significant complications of iodine exposure. We report a unique case of a 14-year-old boy with congenital heart disease, who developed sequential iodine-induced hypothyroidism due to failure to escape from the Wolff-Chaikoff effect, followed by hyperthyroidism (Jod-Basedow syndrome) after additional exposure to iodinated contrast. Case Presentation: The patient is a 14-year-old male with a history of complex congenital cardiac defects. He underwent a Fontan procedure to manage his single-ventricle physiology, resulting in plastic bronchitis requiring lymphatic intervention and cardiac catheterization. At age 15, he developed hypothyroidism requiring levothyroxine, but 6 months later presented with symptoms and labs confirming hyperthyroidism following CT scan with IV iodinated contrast. Levothyroxine was discontinued, and methimazole was initiated to manage his hyperthyroidism. Conclusion: Iodine-induced hypothyroidism and Jod-Basedow syndrome should be considered potential complications for patients who undergo iodine exposure. This case highlights the importance of vigilant thyroid monitoring in congenital heart disease patients who are undergoing frequent radiation and iodine contrast exposure. In this patient, both his hypothyroidism and hyperthyroidism were successfully managed, but his overall condition deteriorated, ultimately requiring a heart transplant. This case underscores the importance of close monitoring of thyroid hormone levels in complex cardiac patients who undergo repeated exposure to iodinated contrast during procedures and imaging studies.