Journal of Clinical and Translational Endocrinology: Case Reports最新文献

Background/objective

To report a rare case of ectopic parathyroid hormone (PTH) secretion from poorly-differentiated adenocarcinoma and the lessons learned in management.

Case report

A 54-year-old woman presented with fatigue, hip pain, and confusion. Workup revealed calcium of 16.9 mg/dl (N: 8.5–10.3 mg/dl), PTH of 981 pg/ml (N: 15–65 pg/ml), and parathyroid hormone-related peptide (PTHrP) of 20 pmol/L (N: 14–27 pmol/L). Parathyroid four-dimensional computed tomography was unrevealing. Magnetic resonance cholangiopancreatography demonstrated innumerable hepatic lesions. Biopsy of the liver and pubic ramus revealed poorly differentiated adenocarcinoma of unknown origin with acinar cell differentiation and focal PTH positivity.

Initial treatment with intravenous bisphosphonates and cinacalcet showed a poor response. Calcitonin had a short-lived response. Although chemotherapy significantly improved calcium levels, she was unable to tolerate chemotherapy. Despite a rise in PTH from 196 to 674 pg/ml, denosumab improved calcium levels from 13 to 9.7 mg/dl. She expired due to a cardiac arrest.

Discussion

PTH secretion from tumors with acinar cell differentiation outside of the pancreas has not been described. Cinacalcet was ineffective and it is doubtful that the malignant cells had calcium-sensing receptors. Calcitonin was effective initially, but she eventually developed tachyphylaxis. Use of denosumab later in the treatment course has resulted in significant improvement in calcium despite worsening PTH levels.

Conclusion

Denosumab is effective in the treatment of paraneoplastic PTH-mediated hypercalcemia and should be considered in patients who have resistance to bisphosphonate therapy.

POEMS syndrome is a rare paraneoplastic syndrome caused by potential plasma cell diseases. It is mainly manifested as polyneuropathy and monoclonal plasma cell-proliferative disorder, may also be accompanied by Castleman diseases, sclerosing bone lesions, VEGF elevation, organomegaly, extravascular volume overload, endocrinopathy and skin changes. We report herein a case of POEMS syndrome mainly manifested as lower extremity pain, initially diagnosed as diabetic peripheral neuropathy (DPN) due to diabetes mellitus. Due to the poor treatment effect, the patient was admitted to the hospital for the second time. We found that the patient was also accompanied by elevated M-protein, VEGF elevation, hypogonadism and white nails, and was finally diagnosed as POEMS syndrome. Therefore, the purpose of this report is to advise clinicians not to over diagnose DPN, and to raise awareness of POEMS syndrome, especially among endocrinologists.

Graves’ disease is one of the most common forms of autoimmune hyperthyroidism and has been linked with multiple or family histories of autoimmune diseases. In most cases, Graves' disease diagnosis is easily made by recognizing goiter, ophthalmopathy, and hyperthyroid symptoms. However, in some cases, the symptoms are atypical and potentially be misdiagnosed. We presented a patient with immune thrombocytopenic purpura as an initial symptom of Graves' disease in a patient with family history of Graves' disease.

A-27 year-old man came to the emergency department due to recurrent epistaxis since two weeks ago. The patient was diagnosed with ITP a year ago, but discontinued his medication by himself. His platelet count was 4000/μL with negative results of HBV, HBC, HIV, and ANA tests. His mother was going on Graves' disease medication for 15 years, but no goiter or ophthalmopathy was observed. His vital sign was constantly raised, and meticulously examination by Wayne score revealed hyperthyroidism, that were confirmed by raised T4 and decreased TSH level. Graves' disease diagnosis was established by the increasing of TRAb. The patient was then treated concurrently for his ITP and Graves’ disease, which showed excellent improvement.

Immune thrombocytopenia purpura could be the only initial symptom of Graves' disease, especially in a patient with family history of Graves' disease. Autoimmune diseases tend to be clustered not only in a family, but also in an individual. Although ITP in Graves's disease reflect more severe thrombocytopenia, euthyroid states by propylthiouracil medication in combination with standard ITP therapy resulting an excellent outcome.

Severe vitamin D deficiency (VDD) typically presents with overt hypocalcemia, hypophosphatemia, high alkaline phosphatase (ALP) and high parathyroid hormone (PTH). The clinical presentation and the biochemical features in atypical cases of VDD can be similar to pseudohypoparathyroidism (PHP). We present 2 patients with atypical laboratory findings of severe VDD secondary to restrictive eating disorders. PHP was considered, given hyperphosphatemia rather than hypophosphatemia classically seen with severe VDD. Renal PTH resistance, mimicking PHP, was observed in both cases with high phosphorus and high PTH levels in the setting of severe VDD. Calcitriol was added to the treatment to normalize serum calcium levels and overcome PTH resistance. Hypocalcemia and hyperphosphatemia resolved and PTH normalized with calcium, cholecalciferol and calcitriol supplementations and dietary modification, eliminating the need for further workup for PHP.

Introduction

Subacute thyroiditis (SAT) is an inflammatory disease that has different trigger factors. Recent studies show the possible role of COVID-19 vaccine-induced thyroiditis in its initiation. Herein we report the first case of post-Sputnik V vaccination SAT.

Case presentation

A 42-year-old man without any specific disease was admitted due to tremors, palpation and sweating, and neck tenderness on the thyroid gland. Laboratory markers and radiologic assessments highlighted thyroiditis for him, and his symptoms were relieved by administering NSAIDs and corticosteroids.

Discussion

There are several hypotheses for the etiology of post-COVID-19 immunization SAT; among them, immunologic reactions like the interactivity of human proteome with viral components and autoimmune/inflammatory syndrome induced by adjuvants (ASIA) are more probable than other discussed possibilities. We suggest further studies to discover the exact SAT pathophysiology to prevent the underlying causes among future vaccine candidates.

Sodium-glucose cotransporter-2 (SGLT2) inhibitors for the treatment of type 2 diabetes mellitus are gaining popularity due to their cardioprotective and renoprotective effects, yet SGLT2 inhibitors are increasingly associated with euglycemic diabetic ketoacidosis, which could be life-threatening if missed due to pseudo-normoglycemia. We herein report a 55-year-old male with poorly controlled type 2 diabetes mellitus on Alogliptin, Pioglitazone, Canagliflozin and Repaglinide presented with 3 weeks of low-grade fever, generalized weakness, anorexia, cough, feeling of discomfort in the jaw and dysphonia. The patient was found to have euglycemic diabetic ketoacidosis complicated by subacute thyroiditis. After saline infusion with IV glucose and insulin, he recovered quickly and was discharged on the 8th day of admission. This is the first reported case of simultaneous development of euglycemic DKA and subacute thyroiditis and highlights the importance of identifying the rare combination of disease as soon as possible and treating them promptly.

Hyperparathyroidism may lead to skeletal (osteitis fibrosa cystica) and renal complications; however, these are now uncommon in developed countries where hypercalcemia is detected earlier on biochemical screening and prior to the development of overt symptoms and signs. Rarely, however, these complications may be the presenting problem for a patient with undiagnosed hyperparathyroidism.

We describe the case of a patient with a right tibial mass, severe hypercalcemia and numerous skeletal lytic lesions which could easily have been mistaken for metastatic bone disease. The presence of an elevated parathyroid hormone and histological assessment led to the diagnosis of a brown tumour due to hyperparathyroidism. All patients with hypercalcemia should undergo a systematic workup to avoid missing a benign, treatable disorder.

Ectopic parathyroid glands are not rare. They are usually located between the mandible and mediastinum, and usually localized with standard imaging modalities (^99mTc-sestamibi subtraction scintigraphy and 4D-CT). We report the case of a 67-year-old woman with severe hypercalcemia due to symptomatic primary hyperparathyroidism whose preoperative ^99mTc-sestamibi and 4D-CT scans were non-localizing. During 4-gland exploration, one hypercellular parathyroid was excised, two normocellular parathyroids were biopsied, and bilateral low internal jugular vein sampling showed similar parathyroid hormone (PTH) levels. Despite treatment with zolendronic acid and cinacalcet, symptomatic PHPT persisted. A^99mTc-sestamibi study using a modified anterior and posterior whole-body scintigraphy protocol with SPECT/CT revealed mild focal uptake in the right para-tracheal area, correlating with a mass on SPECT/CT. Sestamibi uptake was visually more conspicuous on posterior projection whole-body image. Thoracoscopic resection of this mass revealed a parathyroid gland (2.6 × 1.5 × 0.7 cm) composed almost entirely of chief cells. The lack of identifiable oxyphil content could explain the lack of or limited radiotracer uptake. The modified protocol differed from standard parathyroid imaging in the timing of radiotracer administration, timing of image capture, and types of images obtained could account for the eventual visualization of the ectopic tissue, and may be considered in challenging cases of suspected ectopic parathyroid gland.

Background

Pituitary apoplexy is a rare endocrine emergency, which commonly presents with headache and is occasionally associated with visual disturbances. Prompt diagnosis and treatment can be both life and vision saving. In the emergence of novel coronavirus and global pandemic, rapid development of new vaccines have shown to reduce morbidity and mortality associated with Covid-19. Recognition of rare potential adverse effects of these vaccines including pituitary apoplexy are yet to be reported. A causal link between pituitary apoplexy and COVID-19 vaccination has not been established.

Case presentation

We report a case of a 24-year-old woman who presented with progressively worsening headache soon after completing her COVID-19 vaccination. Imaging showed pituitary apoplexy with an underlying pituitary mass. In view of the age and the typical presentation of severe headache, pituitary hypophysitis was considered, despite the absence of the almost pathognomonic feature of a thickened pituitary stalk in the initial imaging. In the context that the headache had started shortly after the administration of the second dose of COVID-19 vaccine, this potentially could have been the trigger for the occurrence of pituitary apoplexy.

Conclusion

Although the pathophysiology is not entirely clear and no direct link could be ascertained, our patient may have developed an exaggerated immunological response after the vaccine, with a possible pituitary hypophysitis leading to a pituitary apoplexy.

Background

Monoclonal antibodies have become a mainstay in treatment of autoimmune and malignant disease. Adverse reactions to antibody therapy are often unpredictable and include endocrinopathies. The monoclonal antibody alemtuzumab, which is licensed for the treatment of MS, induces Graves' disease in 22% of patients with MS receiving the drug. Alemtuzumab targets CD52 which causes depletion of mature lymphocytes. In this case report, clinical considerations and pathophysiology are explored by commentating on a patient who developed Graves' disease following alemtuzumab therapy.

Case description

SK is a 37-year-old woman diagnosed with MS at 25, and also suffers from depression. SK began alemtuzumab treatment at aged 35, subsequently, she was found to have deranged TFTs (TSH <0.01 mU/L and fT4 28 pmol/L). SK experienced regular palpitations, fatigue and disturbed sleep. The patient attributed her fatigue and palpitations to MS and did not seek medical attention. SK reported no other symptoms of hyperthyroidism. Symptoms resolved following administration of carbimazole and propranolol.

Discussion

The exact mechanisms underlying both MS and alemtuzumab-induced Graves' disease are unknown. Lymphocyte depletion and reconstitution is thought to cause autoimmunity by over-repopulation of naïve B-cells, T-lymphocyte modulation and disrupting cytokine signalling (IL-21 and IFNy). The slow regeneration of Treg cells that normally promote tolerance underlies these changes. This report identifies challenges including: identifying adverse reactions to new medications, patients discriminately reporting symptoms and the fragility of quality of life in patients with MS.