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

Background

Thyroid hemiagenesis (TH) is a rare disorder that is usually clinically silent unless associated with other thyroidal pathologies. We present a case of a TH patient with Graves' disease (GD). To our knowledge, this is the first ever case to be reported in Lebanon, and worldwide since 2017.

Case Report

A 45-years-old woman with GD was investigated for persistent anxiety and tremors. Radiological imaging disclosed the absence of the left thyroid lobe on neck ultrasound along with increased tracer uptake by the right lobe on the thyroid scan, in keeping with toxic right hemithyroid. This is an extremely rare case of thyroid hemiagenesis associated with Graves' disease (THGD).

Discussion

Clinical examination can help in the diagnosis of TH with the palpation of one thyroid lobe in the presence or absence of an isthmus. However to diagnose THGD, workup requires biochemical testing along with imaging and scintigraphy to compliment the findings of GD in the present lobe. Follow-up visits are very important to make sure that the treatment of choice has been effective and that there has not been any relapse.

Conclusion

THGD is a rare form of thyroid disorders that can be misdiagnosed sometimes. The actual pathophysiology of the disease is still unknown.

Introduction

We report the case of a giant pheochromocytoma, which was a composite tumor, a very rare pathology accounting for only 3% of pheochromocytomas.

Case presentation

A 61-year-old male patient presented with paroxysms: palpitation episodes, headache, and spells of elevated blood pressure (BP) for 4 years, as well as nocturnal diaphoresis, chronic diarrhea, and weight loss. The 24-h urine analysis showed a marked increase in normetanephrines and metanephrines. Computed tomography (CT) showed massive heterogeneous solid-cystic expansive formation with septations and areas showing soft tissue density. MIBG-iodine 131 had an extensive, rounded, heterogeneous hyper-uptake lesion in the left upper abdominal region, which measured 16.9 cm at its largest diameter. Finally, magnetic resonance imaging (MRI) revealed a massive expansive solid cystic lesion likely originating in the left adrenal gland.

Discussion

Overall, 90% of patients with catecholamine-secreting tumors present with symptoms, and half have paroxysms. Fractionated metanephrines are one of the most sensitive and specific products released by tumors. Every patient with catecholamine-secreting tumors must undergo resection. Given the high surgical risk, the pre-operative period must be well managed by controlling the patient's blood pressure to avoid a hypertensive crisis during surgery.

Conclusion

Proper pheochromocytoma diagnosis and treatment are important in endocrinology clinical practice because they help avoid sequelae and unexpected outcomes. Special care should be taken to perform a differential diagnosis in patients with elevated blood pressure, such as changing the workup applied to hypertensive patients, a common condition affecting the overall population.

Parathyroid adenoma weighing more than 3.5 g are referred as Giant parathyroid adenoma (GPA). These mainly present with primary hyperparathyroidism but have severe clinical presentations like severe hypercalcemia and significantly higher PTH levels. These features are sometimes indistinguishable from parathyroid carcinoma. We describe an interesting case and clinical course of a young woman with GPA. A 27 years old woman previously asymptomatic presented with pain in left leg along with difficulty in walking and was subsequently diagnosed to have fracture of neck of left femur and severe hypercalcemia. On evaluation, the patient was found to have PTH dependent hypercalcemia and severe osteoporosis. USG neck revealed well defined heterogenous hypoechoic lesion suggestive of parathyroid adenoma. Tc99 sestamibi scan showed tracer localization to inferior aspect of lower lobe of right thyroid gland. She underwent right inferior parathyroidectomy and a giant parathyroid adenoma (GPA) weighing 20 g was excised. Histology confirmed parathyroid adenoma with mainly chief type cells. The tumour excision resulted in significant decline in PTH levels. She developed severe hungry bone syndrome (HBS) in post operative period. She was treated aggressively for HBS with intravenous calcium gluconate, oral calcium supplements along with calcitriol. GPA present as distinct clinical entity with features different from both parathyroid adenoma and parathyroid carcinoma. We will highlight the distinguishing points of GPA from parathyroid adenoma and parathyroid carcinoma.

Background

Hypercalcemia of malignancy (HCM), a PTH-independent process, usually occurs in solid tumors, multiple myeloma, and occasionally lymphomas. It generally results from excess secretion of parathyroid hormone related protein (PTHrP) by the tumor, osteolytic metastases, or rarely, tumor production of 1,25-(OH)₂ vitamin D. We present an unusual case of HCM in a patient with refractory acute myelogenous leukemia (AML) without a defined mechanism that was resistant to bisphosphonate therapy.

Case report

A 49 year-old woman with refractory AML presented acutely with altered mental status, decreased appetite, nausea, and fatigue. She was found to have HCM with a low intact parathyroid hormone (PTH) level. Her PTHrP and 25-(OH) vitamin D levels were normal, and her 1,25-(OH)₂ vitamin D level was suppressed. Other labs were unrevealing, and imaging showed no new osseous lesions. Her hypercalcemia was treated with normal saline, intravenous furosemide, calcitonin, and two doses of pamidronate. Her calcium level normalized but then rebounded and remained elevated despite pamidronate therapy. Denosumab was considered, but due to rapid clinical deterioration, the patient's family pursued comfort care.

Discussion

AML is an extremely rare cause of HCM. This is the eighth reported case of AML-related HCM since 2000 and the first known case with bisphosphonate resistance. Our patient's HCM was not explained by typical mechanisms. Several case reports have demonstrated that denosumab can successfully treat bisphosphonate resistant HCM and is a potential therapeutic option.

Background

Familial hypocalciuric hypercalcemia (FHH) is a rare condition that affects the calcium sensing receptor and its associated proteins, causing parathyroid hormone (PTH)-mediated hypercalcemia. FHH is inherited in an autosomal dominant pattern. Most persons with FHH are asymptomatic.

Case presentation

A 30-year-old Caucasian male was sent for evaluation to our endocrinology unit due to recurrent pancreatitis in the context of chronic hypercalcemia, and a biochemical profile compatible with FHH. Genetic evaluation did not show any mutations associated with pancreatitis but revealed a known heterozygous variant in the AP2S1 gene: c.44G > T, p.Arg15Leu, responsible for FHH type 3 (FHH3). A bone mineral density DXA scan detected low bone mass, in the osteoporotic range, with no other secondary causes. Both his parents were normocalcemic. Treatment with the calcimimetic cinacalcet normalized his blood calcium; no episodes of pancreatitis have occurred during 26 months follow up. The patient's only child was found to have hypercalcemia at age three years. His lab results were compatible with the diagnosis of FHH, and he was found to carry the same AP2S1 gene mutation as his father. His calcium level was elevated but he did not have any symptoms related to hypercalcemia. He was diagnosed with speech delay.

Conclusions

We describe a man with a de-novo mutation leading to FHH3, who presented with a rare combination of symptoms, including recurrent pancreatitis and low bone mass, whereas his child presented with speech delay. Hypercalcemia and related FHH3 morbidities may respond to calcimimetics.

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.