AACE Clinical Case Reports最新文献

Background/objective: Cushing syndrome resulting from ectopic adrenocorticotropic hormone (ACTH) secretion (EAS) is a rare condition, and its occurrence in adolescents is even more uncommon, representing <1% of cases. We describe a case of EAS from a lung carcinoid tumor leading to Cushing syndrome in a young woman, which was successfully treated with excision of the tumor.

Case report: An 18-year-old woman presented with mood disturbances, weight gain, and fatigue for 6 months. Workup revealed high levels of urinary free cortisol (>900 μg/dL; normal range, <45 μg/dL) and midnight salivary cortisol (0.755 μg/dL; normal range, <0.09 μg/dL). The ACTH and cortisol levels remained elevated after a low-dose dexamethasone suppression test. Magnetic resonance imaging of the pituitary gland did not reveal any adenoma and inferior petrosal sinus sampling showed no central-to-peripheral gradient. A diagnosis of EAS was made. Subsequent body imaging noted a 1-cm lung nodule. Due to symptoms of severe hypercortisolism including hypokalemia and worsening mood changes, the patient was started on metyrapone as a bridge to surgery. A few weeks later, the patient underwent successful surgical resection, after which symptoms promptly resolved. Pathology report later confirmed an atypical lung carcinoid tumor. The patient remained in remission at 1-year follow-up.

Discussion: Medical therapy aids in managing severe hypercortisolism in ACTH-secreting tumors until definitive surgical treatment can be undertaken.

Conclusion: This case underscores the critical importance of promptly recognizing EAS and the resulting severe hypercortisolism symptoms because early surgical intervention can lead to a cure.

Background/objective: Severe progressive overgrowth of the facial bones known as uremic leontiasis ossea (ULO) is a rare complication of resistant hyperparathyroidism in end-stage renal disease (ESRD). The objective of this report is to describe the presentation and treatment of ULO.

Case report: A 48-year-old woman with a history of hypertension, coronary artery disease, and ESRD on hemodialysis presented with severe secondary hyperparathyroidism and calciphylaxis. She had significant changes to her face in the last 3 months leading to oropharyngeal dysphagia and difficulty articulating. Physical examination revealed bony overgrowth in her upper jaw and hard palate, widely spaced teeth, and calcinosis cutis. Her parathyroid hormone (PTH), calcium, and phosphorus levels were 5066 pg/mL (normal range, 12-88 pg/mL); 10.0 mg/dL (8.4-10.2 mg/dL); and 5.4 mg/dL (2.7-4.5 mg/dL); respectively. Using a multidisciplinary approach, she successfully underwent a 3.5-gland parathyroidectomy (immediate postoperative PTH level, 600 pg/mL). She was discharged without complication. Pathology showed hypercellular parathyroid glands with reactive changes.

Discussion: ULO, the most severe form of renal osteodystrophy, results in hypertrophy of the craniofacial skeleton. It carries the risk of significant comorbidities due to cranial nerve compression, respiratory compromise, dysarthria, and dysphagia.

Conclusion: With prolonged, uncontrolled PTH stimulation in ESRD, significant facial disfiguration with disabilities can occur. It is of utmost importance to adhere to guideline-specified PTH targets in persons with ESRD to prevent patient harm from permanent physical deformities.

Background/objective: Obesity and rapid weight loss are risk factors for developing deep vein thromboses (DVTs). Our aims were to present a patient who developed extensive DVT after relatively rapid and severe weight loss that followed taking tirzepatide and to raise the awareness among health care professionals regarding the risk of DVT that can be associated with significant weight loss due to these agents.

Case report: We present the case of a 20-year-old young man, with raised body mass index of >35 kg/m², who was initiated on tirzepatide treatment for weight loss, with 12-kg weight lost over 6 weeks. The patient did not have any risk factors for thrombophilia including family history, any recent travel, immobilization, recent infections, or recent surgeries. He presented with left leg swelling, and physical examination revealed signs of proximal DVT, and ultrasound Doppler and computed tomography venography confirmed extensive left-sided DVT with complete obstruction of the common femoral and iliac veins. He underwent mechanical thrombectomy and was maintained on anticoagulation therapy. His investigations for thrombophilia screening excluded any other cause for DVT, with the etiology attributed to possibly rapid weight loss.

Discussion: Newer and potent glucagon-like peptide 1 receptor agonists like tirzepatide are commonly used nowadays to induce weight loss in obese patients.

Conclusion: Adequate risk assessments and close monitoring should be performed in patients initiating glucagon-like peptide 1 receptor agonists, particularly if they have risk factors for developing venous thromboembolism.

Background/objective: Calcium channel blockers, when taken in overdose quantities, can cause hyperglycemia requiring so-called hyperinsulinemic-euglycemic therapy. The objective of this report was to describe a patient with calcium channel blocker toxicity resulting from overdose of amlodipine.

Case report: A 74-year-old man presented with a fall and loss of consciousness. Prior to this event, he consumed 88 tablets of amlodipine. Medical history was significant for hypertension, hyperlipidemia, and cerebrovascular accident. His vital signs were heart rate of 51 beats/min, blood pressure of 162/137 mm Hg, oxygen saturation of 94% on room air, and respiratory rate of 16 breaths/min. The patient soon became hypotensive. The blood glucose level was 227 mg/dL. Urinalysis was negative for ketones. The patient was diagnosed with calcium channel blocker toxicity and admitted to the intensive care unit. He received continuous insulin infusion and dextrose 25% in water for 5 and 7 days respectively, with a peak insulin infusion rate of 850 U/h. After discontinuation of medications, the glucose level, blood pressure, and heart rate were 82 mg/dL, 127/68 mm Hg, and 86 beats/min, respectively, and he returned to prior functional status.

Discussion: Amlodipine is a long-acting dihydropyridine class calcium channel blocking drug. In the overdose setting, amlodipine inhibits calcium uptake by myocytes and release of insulin from pancreatic beta cells.

Conclusion: In this case, high-dose insulin euglycemic therapy was effective in the treatment of amlodipine overdose and should be considered in similar cases.

Background/objective: Medullary thyroid carcinoma (MTC) is an uncommon thyroid cancer (TC), rarely found in hyperfunctioning goiter.

Case report: We present a case of a woman treated for breast carcinoma (BCA) found to have a benign hyperfunctioning nodular goiter, its likely transformation to MTC, and its treatment. Family history revealed papillary thyroid cancer in her nephew.

Discussion: Most TCs in hyperfunctioning nodules are differentiated carcinomas. Familial MTC or MTC in association with multiple endocrine neoplasia 2 is the expected genetic association in this case.

Conclusion: The association of BCA and MTC may have been coincidental, given the high prevalence of BCA in females. It could have been the result of a common genetic precursor of both tumors and/or treatment modality such as external beam radiation therapy used to treat BCA. This case highlights the importance of considering MTC as a potential diagnosis even in cases of hyperfunctioning nodular goiter. We call for consideration of calcitonin level measurement in the workup of thyroid nodules in select cases. Close follow-up of thyroid nodules, particularly in patients with another primary malignancy, is important because of possible common genotype triggers.