JCEM case reports最新文献

Sodium/glucose co-transporter 2 (SGLT2) inhibitors are a frequently used medication for patients with type 2 diabetes, congestive heart failure (CHF), and chronic kidney disease. We present a 47-year-old patient with past medical history of type 2 diabetes and CHF who was initiated on empagliflozin and subsequently developed muscle pain and weakness. Evaluation of patient and laboratory testing confirmed drug-induced myopathy with elevated creatinine kinase (CK). Symptoms of myopathy and elevated CK resolved after holding empagliflozin. There are no current adverse effects listed with SGLT2 inhibitors including myopathy or rhabdomyolysis with the exception of other case studies. Physicians should be aware of this rare but serious side effect when initiating SGLT2 inhibitors.

Hypercalcemia may be induced by a variety of etiologies, most commonly primary hyperparathyroidism. Although primary hyperparathyroidism represents a relatively common endocrinological disorder, ectopic PTH secretion is a rare entity that is less well described in literature. We describe the first case to our knowledge of severe, symptomatic hypercalcemia found to be secondary to a PTH-secreting pancreatoblastoma. The patient initially presented with fatigue and progressive upper extremity intermittent muscular twitching. He was found to have biochemical evidence of primary hyperparathyroidism. A computed tomography scan of the neck and a sestamibi nuclear scan failed to definitively demonstrate a parathyroid adenoma or hyperplasia and bilateral surgical parathyroid exploration was unrevealing for any pathology. Abdominal imaging via computed tomography was obtained for evaluation of progressive postoperative epigastric pain, and the patient was found to have a retroperitoneal mass that, after biopsy, was diagnostic for a pancreatoblastoma. This mass was resected resulting in a fall in intraoperative PTH values and subsequent postoperative hypocalcemia secondary to hungry bone syndrome. Upon follow-up, the patient's parathyroid function recovered and doses of supplemental calcium and vitamin D could be tapered. Ectopic PTH-secreting masses represent a rare entity but should be considered in individuals with unclear etiology of recalcitrant primary hyperparathyroidism.

Hypertriglyceridemia is an important and well documented adverse effect caused by the immunosuppressive agent sirolimus. Patients treated with sirolimus require frequent monitoring of blood lipid panels and prompt treatment with appropriate triglyceride-lowering therapies. We report the case of an asymptomatic 65-year-old female stem cell transplant recipient who developed extreme hypertriglyceridemia with levels > 19,000 mg/dL (214 mmol/L) (reference range, < 150 mg/dL [< 1.7 mmol/L]), secondary to sirolimus for prophylaxis of graft-vs-host disease. Acute treatment included admission to the intensive care unit for initiation of an intravenous insulin infusion, low-fat diet, and discontinuation of sirolimus. These measures, in addition to initiation of oral triglyceride-lowering agents and improved glycemic control, led to substantial improvement in triglyceride levels.

Thymic hyperplasia has occasionally been reported in patients with Graves disease (GD). However, ectopic cervical thymic hyperplasia in the setting of hyperthyroid GD is exceptionally rare. We describe a case of a 54-year-old Thai woman who presented with hyperthyroidism, diplopia, and pretibial myxedema. She underwent a total thyroidectomy because of diplopia caused by Graves ophthalmopathy. During the surgery, 3 macroscopically abnormal enlargements of parathyroid gland-like tissue were identified and removed. Histopathology revealed hyperplastic thymic tissue mixed with 1 normal-sized parathyroid gland at the location of the left upper parathyroid gland, and thymic tissue was found in the sample labeled as the right upper parathyroid gland. Notably, the sample labeled as the right lower parathyroid gland was actually determined to be a lymph node. Preoperative blood samples showed normal serum calcium and parathyroid hormone levels. Postoperatively, computed tomography of the chest showed thymic hyperplasia in the anterior mediastinum, which slightly regressed at the 9-month follow-up. The patient had transient hypoparathyroidism requiring oral calcium and active vitamin D supplements for 6 months postoperatively. Ectopic cervical thymic hyperplasia can be found in GD and might be indistinguishable from parathyroid hyperplasia. Biochemical evaluations are required to exclude concomitant hyperparathyroidism, and a conservative approach should be considered.

Hypoglycemia in the absence of diabetes is often multifactorial and challenging to diagnose definitively. We present a case report and an expanded series of adult females with reactive hypoglycemia who were diagnosed with Ehlers-Danlos syndrome (EDS). These patients exhibited predominantly postprandial hypoglycemia, with some fasting and activity-induced episodes. Clinical findings included autonomic dysfunction, gastrointestinal symptoms, and joint hypermobility. Interventions focused on medical nutrition therapy, continuous glucose monitoring, and, in some cases, medication. Many patients continued to experience hypoglycemic episodes despite treatment. Key learning points include the potential association between hypermobile EDS and hypoglycemia, the importance of confirming the Whipple triad, and the need for multidisciplinary management. This case series highlights the need for further research into the prevalence and pathophysiology of hypoglycemia in EDS.

Immune checkpoint inhibitor drugs can trigger autoimmune endocrine reactions as a known side effect. Several cases of immunotherapy-induced autoimmune endocrinopathies have been described, but multiple sequential endocrine toxicities are a rare occurrence. A 39-year-old patient with metastatic melanoma started adjuvant therapy with pembrolizumab. One month later he presented with asymptomatic thyrotoxicosis and, within several weeks, overt hypothyroidism, for which he started levothyroxine therapy. Subsequently the patient developed central adrenal insufficiency due to probable hypophysitis, and steroid replacement therapy was started. Pembrolizumab therapy was then discontinued. After a few months, a full recovery of pituitary function was observed, but primary adrenal insufficiency occurred, requiring additional fludrocortisone therapy. The described clinical case is a very uncommon case of triple endocrinological toxicity from immunotherapy. The clinical and biochemical manifestations of immunotherapy-induced endocrinopathies can be variable and atypical; therefore, it is necessary to pay special attention to any clue of hormonal dysfunction.

Nonketotic hyperglycemia chorea-ballismus (NKH-CB), a rare metabolic syndrome, arises as a secondary condition to hyperglycemia. It is marked by acute or subacute hemichorea-hemiballismus, hyperglycemic state, and unique reversible striatal abnormalities on neuroimaging. This case presents a 70-year-old Hispanic man with a significant medical history of cerebral vascular accidents, hypertension, bipolar disease, and uncontrolled type 2 diabetes mellitus. Notably, the patient was experiencing large-amplitude involuntary movements on his left side for the past 3 weeks. With resolution of hyperglycemia, the amplitude and frequency of the involuntary arm movements were absent. This case highlights the need for careful monitoring and tight control of blood glucose levels in patients with a history of diabetes, to prevent serious neurological complications such as NKH-CB syndrome. Prompt diagnosis through neurological evaluation, blood glucose level assessment, and neuroimaging techniques are critical in managing the symptoms effectively.

Intravenous zoledronic acid is an established and generally well tolerated form of antiresorptive therapy for osteoporosis. Although mild arthralgias are a well-documented manifestation of the acute phase response to intravenous bisphosphonates, more severe musculoskeletal reactions manifesting as debilitating pain and joint effusions have been rarely documented in the current literature. In this case report, we discuss the case of a 55-year-old woman who developed severe painful bilateral knee effusions within 1 week of her first zoledronic acid infusion for osteoporosis. Prescribing physicians and patients should be made aware of this uncommon but important adverse effect to zoledronic acid.

Hypercalcemia is a relatively common clinical problem, and evaluation for its etiology may often prove to be challenging. However, a thorough etiological workup can guide effective therapy and can often prove to be lifesaving. We describe a 61-year-old man who presented with fever, anorexia, and weight loss for 3 months, and altered sensorium for around 1 week. His evaluation revealed severe hypercalcemia, correction of which led to improvement in his symptoms. Workup for the cause revealed that he had parathyroid hormone-independent hypercalcemia with elevated levels of 1,25-dihydroxyvitamin D, suggesting a granulomatous disease. Radiological evaluation was suggestive of a multisystem disorder with bilateral adrenal enlargement, generalized lymphadenopathy, and hepatosplenomegaly. Biopsy from the adrenal gland and bone marrow clinched the diagnosis of progressive disseminated histoplasmosis, which required treatment with liposomal amphotericin B for a total duration of 4 weeks, followed by oral itraconazole. The effective treatment was associated with normalization of serum calcium and disappearance of symptoms. Histoplasmosis represents a rare cause of hypercalcemia, with only around 22 such cases having been reported worldwide.

Permanent neonatal diabetes mellitus (PNDM) is a genetic disorder, characterized by a decrease in endogenous insulin secretion. Therefore, exogenous insulin supplementation plays a central role in controlling glycemia. Although adding a sulfonylurea can help to discontinue insulin, discontinuation is sometimes difficult when the sulfonylurea is administered at older ages. A 24-year-old woman with longstanding PNDM who had poor glycemic control using insulin (47 U/day) and high-dose glibenclamide (0.6 mg/kg/day), had successfully discontinued insulin after initiating the dipeptidyl peptidase-4 inhibitor sitagliptin (50 mg/day). Additionally, hemoglobin A1c levels decreased by 4.8%. Double dosing of sitagliptin and subsequent switching to the glucagon-like peptide-1 receptor agonist semaglutide (0.25 mg/week followed by 0.5 mg/week) further decreased hemoglobin A1c values, with graded improvements in endogenous insulin secretion. There were no episodes of hypoglycemia during which glibenclamide was titrated down from 0.6 to 0.4 mg/kg/day. Intra- and inter-day glucose variability as assessed by continuous glucose monitoring was also improved. In patients with PNDM, administration and dose escalation of incretin-based drugs, in addition to a high-dose sulfonylurea, could be a useful treatment strategy. This strategy may be helpful for discontinuing insulin, downtitrating sulfonylureas, and subsequent achievement of better glycemic control regarding long-term stability and short-term variability.