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

Background

Skeletal fluorosis is a metabolic bone disease that results from the chronic ingestion of fluoride. Although there are national programs in place to raise awareness and curtail this disease condition, skeletal fluorosis continues to cause crippling deformities in areas where it continues to be endemic.

Method

ology: An observational study was undertaken at a university-affiliated teaching hospital in southern India. Clinical, biochemical features and densitometric variables including bone mineral density (BMD) and trabecular bone score (TBS) were assessed.

Results

All patients (n = 9) hailed from fluorosis-endemic Indian states and the source of drinking water was from a bore-well in all cases. The mean (±SD) age and BMI were 45.6(±11.0) years and 25.6 (±8.4) kg/m² respectively. Dental mottling was present in five subjects. Five subjects each had vitamin D deficiency with osteomalacia. The mean (±SD) urine fluoride was 2.9(±1.4) ppm. The bone mineral density showed a sclerotic pattern, with the mean (±SD) TBS being 1.607 (±0.160). All patients were initiated on calcium and cholecalciferol supplements and those with osteomalacia were treated with calcitriol.

Conclusion

While fluorosis continues to be a challenge in endemic regions, the presence of osteomalacia proves to be a treatable component of the disease condition. There seems to be an unmet need for more aggressive defluoridation techniques and the provision of safe drinking water in susceptible individuals.

Unbalanced diabetes can lead to many complications related to insulin deficiency. Hepatocytic glycogenic overload, formerly known as Mauriac syndrome, is one of them. It is a rare syndrome initially described in children with type 1 diabetes (T1D) who have a history of high blood glucose followed by high doses of insulin. It is exceptionally described among adults. We report two cases of Mauriac syndrome diagnosed in two DT1 patients, the first admitted for abdominal distension with a subictus and the second admitted for abdominal distension with a failure to thrive. The clinical examination objectified a distended abdomen with hepatomegaly in both patients, subictus in the 1st and a very noticeable growth failure in the 2nd patient. Biological tests showed hyperglycemia, hepatic cytolysis in the first patient with a negative etiological work-up. The diagnosis of hepatic glycogenosis was retained in both patients on a bundle of anamnestic and clinical arguments, and this in the absence of other abnormalities responsible for liver disturbances in the 1st patient. The diagnosis of certainty is histological, and treatment is based on diabetes control.

Objective

To report diagnostic and management challenges of the case of a 91-year-old male patient with Paget's disease (PD) and secondary hyperparathyroidism due to renal disease treated with Denosumab (D-mab), which ultimately resulted in life-threatening hypocalcemia.

Background/objective

A thyroid storm can manifest in many ways during gestation causing harm to the mother and to the baby and risking the outcome of the pregnancy.

Case report

A previously healthy female at 10 weeks gestational age presented to the hospital with complaints of nausea, vomiting and inability to tolerate diet. Patient was found to be in thyrotoxicosis. Propylthiouracil (PTU) could have been the first drug of choice since she was in her first trimester, however, could not be given due to her elevated hepatic function tests. Plasmapheresis was our only option to control her symptoms without risking her pregnancy. After a couple of sessions of plasmapheresis, the patient's thyroid and hepatic function tests resolved and she was put on PTU until her second trimester, when she was switched to methimazole.

Discussion

Current guidelines recommend the use of PTU in the first trimester of pregnancy due to the teratogenicity of methimazole, and consideration to switch to methimazole afterwards. However, when thionamides are contraindicated like in cases of elevated hepatic function tests, limited treatment options remain, especially in pregnancy. Data has shown that plasmapheresis can be performed relatively harmlessly in pregnant patients with severe thyrotoxicosis.

Conclusion

In rare situations where thionamides are contraindicated or ineffective, plasmapheresis is considered an effective treatment to reduce thyroid hormone levels but should be followed by definitive management.

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