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

Background/objective

Thyroid storm is a devastating possibility in patients with hyperthyroidism. Patients can manifest, though not limited to, neurologic and cardiac symptoms that require a variety of different treatments. Previous case reports have demonstrated the efficacy of therapeutic plasma exchange (TPE) therapy in treating thyroid storm refractory to traditional therapy, but due to the rarity of this condition, the evidence supporting the use of TPE in thyroid storm remains scant.

Case report

We present a successful case of TPE and medical management for a patient with repeated admissions for thyroid storm. Her cardiac function and encephalopathy both improved substantially after four sessions of TPE.

Discussion

Thyroid storm is a rare and serious complication of hyperthyroidism from inappropriately high circulating free T3 and T4 hormones. Clinical symptoms include tachycardia, fever, dehydration, and deterioration leading to life-threatening heart failure and coma. In addition to promptly initiating medical treatment to remove eliciting causes, correct elevated hormonal levels, aggressively control sympathetic tone, TPE may be used as a life-saving adjunct to halt the decline in multi-organ system failure and facilitate rapid recovery.

Conclusion

Therefore, we recommend this therapy as a rescue adjunct for the treatment of thyroid storm, allowing time for evaluation of definitive thyroidectomy.

Introduction

Paragangliomas have a wide range of clinical presentations. A significant portion of these tumors are discovered as abdominal masses on imaging or palpation in patients without typical symptoms of catecholamine excess [1]. This case reports a 28-year-old female who presented with fever of unknown origin and was found to have an abdominal mass on CT imaging. This mass was biopsied prior to a complete evaluation and confirmed to be a paraganglioma.

Case report

We discuss the case of a 28 year-old-female who presented to the Endocrinology office after she was diagnosed with a paraganglioma on retroperitoneal biopsy. The patient had initially presented to her primary care provider with fever of unknown origin. She was found to have a large retroperitoneal mass on a non-contrast CT scan done for infectious work-up, which prompted referrals to Medical Oncology and Surgery. A contrast-enhanced CT scan was ordered to assess for metastatic disease and re-demonstrated the retroperitoneal mass. It also provided further information, specifying that the mass was most suspicious for a paraganglioma. Despite this, the patient underwent a biopsy that confirmed this diagnosis without further evaluation prior. She was then referred to Endocrinology and biochemical testing showed mildly elevated normetanephrine on urine and blood analyses. Successful surgical excision of the mass was completed with preceding alpha-blockade. Genetic testing was negative.

Discussion

Paragangliomas have diverse clinical presentations, which can make diagnosis challenging. Fever of unknown origin, as seen in this case, represents a rare manifestation [2,3]. The accuracy of CT scans for identifying paragangliomas has increased significantly over the last decade [4]. Biopsy of these massesis associated with significant morbidity. It is important that clinicians are aware that paragangliomas may be present in the absence of hypertension or classic symptoms associated with pheochromocytomas.

Conclusion

Paragangliomas can be discovered as abdominal masses on imaging in patients without typical symptoms of catecholamine hyper-secretion. If a radiology report suggests a high likelihood of a paraganglioma it is critical to delay a potentially high-risk biopsy until further evaluation can be completed.

We present the case of a 55-year-old female patient with alcohol-related liver damage who presented with hypercalcemia and hyperphosphatemia but also showed severe paradoxical reduction in serum 25-OH vitamin D levels. The serum levels of 1, 25-(OH) ₂ vitamin D, parathyroid hormone, and renal function parameters were normal. Therefore, we examined the renal reabsorption of calcium and phosphate and found a mild increase in both. The serum levels of calcium and phosphate might be determined by 1, 25-(OH) ₂ vitamin D-mediated excessive renal reabsorption of calcium and phosphate in alcoholics with 25-OH vitamin D deficiency but normal renal function.

A 46-year-old female presents to the emergency department with very severe hypertriglyceridemia (HTG) with a total triglyceride (TG) count over 10,000 mg/dL with no evidence of acute pancreatitis. There have been very few cases of very severe hypertriglyceridemia without evidence of acute pancreatitis, based on literature review. It is also rare for triglyceride (TG) counts to exceed 2000 without an underlying genetic cause. Monogenic causes of HTG are uncommon and the true cause of HTG is usually multifactorial. Treatment of severe HTG such as this case often involves long-term lifestyle and dietary modifications.

The virus responsible for the COVID-19 pandemic continues to pose unmatched challenges in the world. It can cause systemic inflammation, which can lead to multiorgan involvement and subsequent damage. The relationship that possibly exists between the COVID-19 infection, the newly developed vaccines, and thyroid disease are still under extensive investigation. We are reporting the first case of new-onset graves’ disease in a young, healthy man after COVID-19 infection and receiving a COVID-19 vaccine dose.

Background

LRBA deficiency is associated with common variable immune deficiency which manifests as hypogammaglobulinemia, autoimmunity, antibodies deficiency, lymphoproliferation and a high susceptibility to inflammatory bowel disease in early childhood. Diabetes mellitus, growth retardation and short stature have also been reported in some patients with LRBA deficiency

Methodology

The proband with infancy-onset diabetes mellitus was recruited with her family. Glutamic acid decarboxylase, insulin, protein tyrosine phosphatase and zinc transporter autoantibodies were measured. Whole genome sequencing for the proband was undertaken to identify causative gene and candidate mutations were confirmed using Sanger sequencing. A diagram of LRBA with predicted domains and reported mutations of LRBA in patients diagnosed with diabetes mellitus was used to investigate clinical phenotype relation to genotype in this type of patients.

Results

Here we report a novel homozygous mutation in LRBA (W1330*, c.3999 G > A) in a child diagnosed with immunodeficiency and infancy-onset diabetes mellitus at the age of 7 months. The same mutation was also found in an older sibling but that sibling does not have diabetes mellitus. The heterogeneity of diabetes presentation in LRBA-deficient patients suggests other genetic factors or protein-protein interactions in the LRBA pathway may play a role in the pathogenesis of the disease

Use of sodium glucose cotransporter 2 (SGLT2) inhibitors is increasing for management of type 2 diabetes, congestive heart failure, and chronic kidney disease. A rare but serious adverse effect of SGLT2 inhibitors is drug-induced Fanconi syndrome, believed to be due to iatrogenic damage at proximal convoluted tubule. Additionally, SGLT2 inhibitors have been known to cause euglycemic diabetic ketoacidosis (DKA). The following report describes a case in which a 35-year-old female with a history of type two diabetes developed concomitant drug-induced Fanconi Syndrome and euglycemic DKA secondary to canagliflozin use. As use of SGLT2 inhibitors continues to increase, providers should be aware of the complication of drug-induced Fanconi Syndrome, closely monitor the acid-base status and electrolytes of patients who show clinical signs of Fanconi syndrome, and discontinue the use of SGLT2 inhibitors in patients for whom no other cause of Fanconi syndrome is identified.

A 66 year old male, originally from the Philippines, was referred to the emergency department with nausea, vomiting, weight loss and right flank pain. His past medical history was significant for hypertension, gout and stage 3b chronic kidney disease. On examination he was hypertensive and hyperpigmented. Laboratory investigations revealed a corrected calcium of 3.79 mmol/l (2.20–2.60), parathyroid hormone (PTH) < 0.6 nmol/l (1.6–6.9), 25OHD 49 nmol/l. He was treated with intravenous (IV) 0.9% saline followed by IV zoledronic acid. Computerised tomography of the thorax, abdomen and pelvis (CT TAP) as well as a positron emission tomography (PET) scan was performed to look for malignancy. These demonstrated bilateral metabolically active adrenal masses with no evidence of extra-adrenal disease. There were no radiological features suggestive of adrenocortical carcinoma (ACC) or phaeochromocytoma and subsequent biochemical investigations confirmed no evidence of endocrine excess. Adrenocorticotrophic hormone (ACTH) levels were elevated however, and a synacthen test revealed inadequate adrenal reserve (peak cortisol 214 nmol/l). The patient was commenced on replacement steroids and proceeded to adrenal biopsy. Histology confirmed diffuse large B cell non-Hodgkin's lymphoma (NHL) and he underwent treatment with R–CHOP regime (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisolone). Follow-up PET scan demonstrated complete radiological response.

More than 30% of newly discovered diabetic patients are presented with diabetic ketoacidosis and even coma at the onset. Diabetic ketoacidosis associated with lipemia is a rare and under reported entity in children. The patient reported is a 4 yearold boy who admitted to the hospital's emergency department with two weeks history of polyuria, polydipsia, weight loss, and complained of abdominal pain, vomiting, and lethargy. He was diagnosed with diabetes mellitus type 1. Upon the clinical examination, the patient showed moderate dehydration, shallow breathing (hyperventilating with Kussmaul breathing) with fruity acetone-smell. A blood sample was withdrawn from the patient that was milky lipemic in appearance. The patient was given intravenous hydration with normal saline fluid, and regular insulin infusion according to DKA rotocol. Few days after hospitalization, glycemic and lipid profile were normalized.

Hypothyroidism is a common pathological condition of thyroid hormone deficiency that varies widely in relation to both the acuity with which the deficiency develops and the clinical manifestations of the disease. While hypothyroidism is commonly mild or even subclinical, one rare complication of hypothyroidism that can cause multiorgan dysfunction is myxedema coma. Myxedema coma is precipitated by an acute stressor such as infection, surgery, or trauma, which disrupts the otherwise compensatory mechanisms present in severe hypothyroidism. Swift diagnosis and treatment of the condition is vital to improving patient outcomes as mortality from myxedema coma ranges from 40 to 60%. The mainstay of treatment includes IV levothyroxine (LT4) with or without the use of liothyronine (LT3). Here we present a case of a patient who presented with presyncope in the setting of generalized fatigue, poor appetite, anhedonia, and slowed speech and movement. Full workup revealed hypotension, hyponatremia, hypoglycemia, respiratory acidosis, undetectable cortisol, free T4, total T4 and an inappropriately normal TSH level. A diagnosis of myxedema coma and adrenal crisis due to pituitary dysfunction was made. A combination of 300 mcg IV LT4 and 5 mcg IV LT3 every 8 hours was used with successful resolution of the patient's symptoms. The patient is currently well maintained on a combination of oral LT4 and hydrocortisone replacement with no further endocrinological complications. This case underscores the need for physicians to maintain a high index of suspicion for secondary adrenal insufficiency and central hypothyroidism in patients with compatible symptoms or risk factors. Furthermore, it also highlights the successful treatment of adrenal crisis and myxedema coma with severe cardiogenic shock with a combination of hydrocortisone, levothyroxine, and liothyronine therapy.