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

Background/objective

Given high mortality rates, understanding the management of associated hypothermia and hyponatremia in the myxedema coma remains crucial.

Case report

A 69-year-old Caucasian male from New England with no known medical history presented to the hospital after a mechanical fall. He was lethargic but arousable on presentation. The vitals showed a rectal temperature of 84.9 °F, heart rate of 48 beats/minute, and blood pressure of 139/87 mmHg. He had delayed reflexes. Active rewarming was initiated to treat hypothermia which led to hypotensive episodes. Initial studies showed TSH of 52 uIU/ML (0.35–5.5), undetectable free T4, and he was treated with intravenous stress-dose glucocorticoids and levothyroxine. Hypotension was partially responsive to fluid therapy but required norepinephrine infusion later. Septic and cardiogenic shock were ruled out retrospectively.

He had serum sodium of 117 MEQ/L, serum osmolality of 255 mOSM/KG), urine sodium of 29 MEQ/L, and urine osmolality of 529 mOSM/KG. Hyponatremia improved with levothyroxine replacement and fluid restriction, suggestive of an SIADH-like syndrome. Further studies revealed positive thyroid peroxidase and thyroglobulin antibodies. A neck ultrasound revealed a partially visualized atrophic thyroid gland.

Discussion

Active rewarming to treat hypothermia in myxedema can lead to hemodynamic instability. Studies report a weak association between hypothyroidism and hyponatremia. Severe hyponatremia from an SIADH-like syndrome can occur in myxedema.

Conclusion

Avoid active rewarming in myxedema. Hyponatremia from an SIADH-like syndrome in myxedema coma corrects with fluid restriction and levothyroxine replacement.

Thyroid storm is a thyroid emergency with increased risk for mortality due to elevated levels of circulating thyroid hormone. While it can be caused by a variety of etiologies, thyroid storm secondary to amiodarone can be particularly challenging to manage. This paper describes a case of a 65-year-old man who presented from outside hospital with persistent ventricular tachycardia and multiple implantable defibrillator firings from thyroid storm following amiodarone infusion. Despite conventional first-line pharmacotherapy, he developed cardiogenic shock and multi-organ failure requiring therapeutic plasma exchange. Due to continued deterioration, he underwent emergent total thyroidectomy. Following surgery, the patient experienced clinical stabilization and has now made a complete recovery. In this paper, we highlight the complexities in the management of amiodarone induced thyrotoxicosis and offer a treatment algorithm and indications for early, definitive management with thyroidectomy.

Background

Well differentiated bronchial neuroendocrine neoplasms often follow a clinically indolent course and rarely cause ectopic ACTH syndrome. Iatrogenic corticosteroid use is the most common cause of Cushing syndrome and should be considered in all patients regardless of clinical background.

Case report

A 59 year old woman with an 11 year history of a 1.5 cm well differentiated bronchial carcinoid, presented with Cushingoid features. Laboratory results were not consistent with an ACTH dependent Cushing Syndrome and exogenous steroids were suspected. The patient received an FDA alert regarding a glucosamine supplement she had started 4 months prior for joint pain.

Discussion

Ectopic ACTH production is reported in less than 5% of patients with small cell lung cancer and 3% of patients with lung or pancreatic (non-MEN1) neuroendocrine tumors. Factitious corticoid exposure is rare and can be evaluated with synthetic corticosteroid serum testing.

Conclusion

Cushing syndrome due to supplements containing unreported corticosteroid doses should be considered in patients with typical Cushingoid features and contradictory hormonal testing.

Background

Pregnancy in the setting of type 1 diabetes (T1D) is associated with increased morbidity and mortality. There is strong evidence to suggest that the use of continuous glucose monitoring (CGM) is associated with better glycemic control and reduced adverse pregnancy outcomes. As hybrid closed-loop (HCL) systems are increasingly used among women with T1D, many prefer to continue off-label use of these systems during pregnancy. However, most of the available HCL systems’ glucose targets and algorithms are not designed to overcome the challenges that face insulin therapy during pregnancy. We are reporting on two females with T1D who used MiniMed 780G, an advanced HCL system, during their pregnancy with good outcomes.

Cases presentation

Case 1: A 23-year-old woman with T1D presented at 6 weeks gestation. She used MiniMed 780G before pregnancy and throughout her pregnancy. By assisting her HCL system with some techniques, such as earlier bolusing before meals and the use of fake carbs to correct high glucose, and providing frequent follow-up, she achieved pregnancy-specific HbA1C and CGM glycemic targets and had good perinatal outcomes. Case 2: A 26-year-old female with T1D presented at 10 weeks gestation. She had been using MiniMed 670G since before pregnancy, thereafter, she was shifted to MiniMed 780G at 23 weeks gestation. We offered her the same techniques to support her HCL, and she achieved pregnancy-specific time in range (psTIR) in the 3rd trimester with good perinatal outcomes.

Conclusion

We could achieve most of the pregnancy-specific glycemic targets with good maternal, fetal, and neonatal outcomes using MiniMed 780G, assisted with some techniques to increase the efficiency of insulin therapy during pregnancy.

Background/Objective

Sarcoidosis can cause severe hypercalcemia and is often a challenge to diagnose due to its variable clinical and radiographic presentations. Severe hypercalcemia is considered an emergency, where prompt treatment is necessary to minimize risk of end organ complications.

Case report

I present a case of a 65-year-old woman who presented with manifestations of severe hypercalcemia, including acute kidney injury and confusion, with a non-suppressed intact parathyroid hormone (PTH) level and a technetium 99 m sestamibi parathyroid scan with single photon emission computed tomography (SPECT) showing bilateral intrathyroidal tracer uptake concerning for multiple possible parathyroid adenomas. 1,25-dihydroxyvitamin D was elevated but conventional chest radiography was unremarkable. Subsequent evaluation involving chest computed tomography (CT) and endobronchial biopsy resulted in findings consistent with sarcoidosis. Prednisone 40 mg by mouth once daily was initiated, and 3 months after initial evaluation, the serum calcium and creatinine normalized, as did neurological function.

Discussion

Severe hypercalcemia should always be evaluated urgently with an exhaustive evaluation to avoid a delay in the diagnosis and/or treatment of potentially serious underlying medical conditions and to avoid performing potentially unnecessary interventions In these cases, a non-suppressed PTH level does not necessarily rule out PTH-independent causes, a “positive” parathyroid scan does not automatically rule in primary hyperparathyroidism, and negative conventional chest radiography does not rule out sarcoidosis.

Conclusion

Diagnostic algorithms for severe hypercalcemia can be utilized as a guide for the evaluation, but caution should be advised when they are taken as a rule. Understanding the limitations and pitfalls of diagnostic imaging and laboratory assays are essential, especially when they do not correlate with the clinical presentation.

Background/objective

Primary hyperparathyroidism is the most common cause of hypercalcemia. Hypercalcemia secondary to giant parathyroid adenomas and parathyroid carcinomas share substantial clinical similarities and their differentiation is challenging.

Case report

We present the case of a 72-year-old female with profound lethargy and confusion associated with polydipsia and polyuria, who was found to have an extremely elevated serum calcium level of 18.3 mg/dL (normal 8.4–10.5 mg/dL), ionized calcium 2.56 mmol/L (normal 1.20–1.32 mmol/L) and intact parathyroid hormone of 1838 pg/mL (normal 15–65 pg/mL). Ultrasound revealed a large hypoechoic nodule measuring 2.5 x 1.8 × 2.0 cm located in the right thyroid bed. Computed tomography revealed a hypoattenuating mass in the same region without obvious soft tissue invasion or lymphadenopathy. Technetium-99 m sestamibi with single-photon emission computed tomography identified intense focal radiotracer uptake at the same location most consistent with hyperfunctional parathyroid tissue. Patient underwent surgical exploration and resection of a parathyroid mass, which weighed 12.1 g and measured 4.6 x 2.5 × 1.8 cm. Pathology confirmed a diagnosis of benign parathyroid adenoma. Patient's laboratory values normalized and her mental status improved significantly, and she was discharged in stable condition.

Discussion

This is a rare case of a symptomatic patient with extreme primary hyperparathyroidism and hypercalcemia that was found to have a benign giant parathyroid adenoma, rather than carcinoma.

Conclusion

Differentiation between large hyperfunctioning parathyroid adenoma and parathyroid carcinoma is nontrivial due to shared characteristics of each. Therefore, the final diagnosis requires imaging and histopathological examination.

Background

The parapharyngeal space contains adipose tissue, lymphatics, cranial nerves, and blood vessels that can serve as a site of tumor metastasis, often via the retropharyngeal lymph nodes. Papillary thyroid carcinoma lymphatic spread is rare but aggressive in nature, and not well detailed.

Case report

We describe one patient with a 13-year past medical history of PTC treated with total thyroidectomy, neck dissection, and radiation who presented with PPS papillary adenocarcinoma. She presented with a 2-weeks of throat pain and dysphagia. She had not follow-up after PTC treatment due to limited care access. A PPS lesion was appreciated on CT, and the tumor demonstrated well-differentiated PTC in addition to high-grade carcinoma with squamous features. The lesion encased the carotid sheath structures and paravertebral fascia, making it inoperable. The patient's condition rapidly deteriorated she expired 74 days after the initial presentation.

Discussion

PTC is the most common thyroid carcinoma and usually spreads via lymphatic drainage. One possibility of metastasis could be via an anatomical variant in which the PPS and retropharyngeal spaces freely communicate. Our case supports the previously described route of metastasis via retrograde lymphatic drainage due to a cervical lymph node metastasis or neck dissection during the initial treatment of PTC 13 years prior.

Conclusion

Our case report highlights the aggression of papillary thyroid carcinoma metastasis to the PPS and emphasizes the need for consistent follow-up post-cancer treatment. Additional studies are required to determine if this metastasis occurred due to neck dissection or regional cervical lymph node involvement.

Background

Hypertriglyceridemia is a rare but potentially severe complication of pregnancy. It is seen in women with inherited lipid disorders, thyroid disease, nephrotic syndrome, diabetes and is associated with certain medication. Hypertriglyceridaemia can cause pancreatitis, pre-eclampsia and foetal compromise. Treatment is often challenging-many medications are not approved during pregnancy and much of the evidence comes from small case reports and case series. Here was present the case of a lady with type 2 diabetes and hypertriglyceridemia, outline our treatment plan and progress and review the literature.

Case presentation

We describe the case of a 37 year old pregnant lady with obesity and type 2 diabetes mellitus who developed severe hypertriglyceridemia in her third trimester. Baseline body mass index and triglyceride level entering pregnancy were 45.2 kg/m² and 2.2 mmol/L (0.4–2.0). At week 31 this lady required >1 unit/kg of insulin. A random lipid level done to investigate large foetal size identified a triglyceride level of 27 mmol/L. Treatment with a reduced fat diet, strict glycaemic control and omega 3 fatty acids was initiated and triglycerides reduced to <5mmol/L. A healthy infant weighting 3.3kg was delivered at 36 + 5. Post-partum lipids returned to baseline levels without treatment and insulin was discontinued after delivery.

Conclusion

Treatment of this rare condition is often complex and required multi-disciplinary input. In cases such as this dietic support and strict glycaemic control are the corner stones of treatment, however a number of oral and parenteral treatment options are available for those with severe complications.

Background/objective

Parathyroid carcinoma is a rare entity presenting as parathyroid hormone (PTH) dependent hypercalcemia. Our objective was to report a case of metastatic parathyroid carcinoma in a middle-aged woman, who presented with refractory hypercalcemia and the strategies we used to induce remission.

Case report

A 47 year old lady with a past history of a left superior parathyroid adenoma excision, presented with recurrent PTH dependent hypercalcemia. An ultrasonography of the neck and parathyroid scintigraphy were normal. Fluorodeoxyglucose-Positron Emission Tomography (FDG-PET) scan picked up metabolically active lesions in the lingular segment of the left lung and another lesion in the diaphragmatic pleura of the left hemi-thorax. Following metastectomy of the lung nodules, she developed symptomatic hypocalcemia with a reduction of serum PTH levels. The histopathology and immunoprofile were consistent with metastatic carcinoma. The PTH levels started rising 2 months after the surgery, with calcium levels remaining stable on cinacalcet, denosumab and cabozantinib.

Discussion

Parathyroid carcinoma is a rare endocrine malignancy with typically indolent, yet progressive course. There is no consensus on the treatment and follow-up of parathyroid carcinoma, owing to its rarity. The greatest likelihood of cure is achieved if complete resection of all malignant tissue is successful at the time of initial surgery. Surgical reduction of the tumor mass may also render the patient's hypercalcemia more amenable to medical treatment with hydration, potent intravenous bisphosphonates, denosumab and cinacalcet.

Conclusion

Surgical debulking of the metastatic lesions, followed by medical management of hypercalcemia offers promising results in the management of metastatic parathyroid carcinoma.