A Novel Missense Gene Sequence Variation Resulting in Familial Hypocalciuric Hypercalcemia.

Background/objective: Familial hypocalciuric hypercalcemia (FHH) is an uncommon cause of hypercalcemia; however, it is important to consider and rule out in patients with suspected primary hyperparathyroidism (PHPT), ideally, before proceeding with surgery. Herein, we present a patient where this process identified a calcium-sensing receptor gene () sequence variant currently labeled as a variant of unknown significance (VUS), yet the patient's family pedigree suggests that it is in fact a pathogenic sequence variant.

Case Report: A 35-year-old woman was referred to the Endocrine Surgery clinic for evaluation of "recurrent PHPT" and need for reoperative parathyroidectomy.

Immobilization-induced hypercalcemia in a patient with renal failure.

Summary: Immobilization-induced hypercalcemia is an uncommon cause of elevated calcium which is usually diagnosed following extensive systemic workup and exclusion of more common etiologies. Previously reported cases have largely described this phenomenon in adolescents and young adults a few weeks to months after the initial onset of immobilization. Metabolic workup tends to demonstrate hypercalcemia, hypercalciuria, and eventual osteoporosis.

The Use of Tc-Methoxy-isobutyl-isonitrile (sestaMIBI) Uptake on Scintigraphy (-STS) in Amiodarone-Induced Thyrotoxicosis: Case Series and Review of the Literature.

Amiodarone is a class III antiarrhythmic drug, used by cardiologists to treat arrhythmia including atrial fibrillation (A fib) and ventricular fibrillation. However, amiodarone is associated with endocrine dysfunction including both hypo- and hyperthyroidism. In the literature, two types of amiodarone-induced thyrotoxicosis (AIT) were described: AIT-1 and AIT-2.

The role of parathyroidectomy in treating hypertension and other cardiac manifestations of primary hyperparathyroidism.

Among many recognized sequelae of primary hyperparathyroidism (PHPT), cardiovascular disease remains incompletely understood as a consequence of disordered calcium and parathyroid hormone (PTH) metabolism. While population studies have identified trends that associate PHPT with hypertension, metabolic syndrome, and vascular system calcifications, the fundamental pathophysiology, natural history, and opportunity to reverse or cure the cardiovascular effects with parathyroidectomy are not well established. This chapter reviews the current knowledge of this field of interest within PHPT and summarizes key findings from dedicated investigations that have addressed the impact of parathyroid surgery on the cardiovascular system.

Simple Reason for Hypoglycemia: ACE Inhibitor-induced Severe Recurrent Hypoglycemia in a Nondiabetic Patient.

Angiotensin-converting enzyme (ACE) inhibitors are among the most common medications used to treat patients with concomitant diabetes and hypertension. They are considered the first line of treatment for hypertension in this population. Several case studies have reported that ACE inhibitors can induce hypoglycemia in patients with diabetes.

Early Presentation of a Rare Complication of Sodium-Glucose Cotransporter-2 Inhibitors 10 Days After Initiation: Case Report and Literature Review.

Fournier's gangrene is an extremely rare infection that can occur in immunocompromised patients, especially those with diabetes. Given the severity of this infection and the new associated link to sodium-glucose cotransporter-2 inhibitors, the US FDA recently issued a warning in August 2018. Few cases of Fournier's gangrene have been reported in the literature in diabetic patients taking these oral medications.

Ultrasound and the Evaluation of Pediatric Thyroid Malignancy: Current Recommendations for Diagnosis and Follow-up.

Ultrasound (US) plays a critical role in the evaluation, treatment, screening, and surveillance of thyroid malignancy in pediatric patients. This review aims to summarize recent advances in this topic. Improvements in imaging technology have amplified the advantage of US and US-guided fine-needle aspiration biopsy for thyroid nodule evaluation, cancer diagnosis, and surgical planning.

Idiopathic Fascicular Left Ventricular Tachycardia.

Idiopathic left fascicular ventricular tachycardia (ILFVT) is characterized by right bundle branch block morphology and left axis deviation. We report a case of idiopathic left ventricular fascicular tachycardia in a young 31-year-old male patient presenting with a narrow complex tachycardia.