Approach to the Patient: Preventing Adrenal Crisis Through Patient and Clinician Education.

Adrenal crisis continues to be an important cause of death despite being a preventable condition. Significant deficits in patient education in the prevention of adrenal crisis have been identified as a contributor to adrenal crisis risk, despite the importance of patient education being highlighted in international guidelines. Deficits in clinician education have also been identified as risk factors for adrenal crisis although they have not been addressed.

Severe Hypertriglyceridemia With New-Onset Type 1 Diabetes in Diabetic Ketoacidosis.

Hypertriglyceridemia is a complication in the presentation of diabetic ketoacidosis (DKA) but has been reported in the pediatric population infrequently. We report a 13-year-old female with new onset type 1 diabetes in DKA, who developed extreme hypertriglyceridemia. Our patient's case is unique as her triglyceride levels were markedly higher than those in other reports and required a longer duration of time to resolve.

Rare variant with insidious presentation leads to a delayed diagnosis of X-linked hypophosphatemia.

A 7-year-old girl without a significant previous medical history was diagnosed with X-linked hypophosphatemic rickets (XLHR) due to a rare, most likely pathogenic, gene variant after a 4-year delayed diagnosis due to mild clinical presentation. At 2 years of age, her intoeing and femoral bowing were attributed to physiologic bowing and borderline vitamin D sufficiency, despite phosphorus not being measured. Hypophosphatemia was eventually detected after incomplete improvement of bowing and leg length discrepancy with suboptimal linear growth.

Pathogenicity of a glucokinase gene mutation and description of its clinical phenotype.

Glucokinase gene (GCK) mutations comprise approximately 10% of cases of maturity-onset diabetes of the young (MODY). Over 800 different mutations in GCK have been reported in the Human Gene Mutation Database, the vast majority of which result in MODY type 2. The missense mutation p.

Sinusitis, an under-reported adverse effect in children treated with radioactive iodine therapy and review of the current literature.

Background Radioactive iodine (RAI) therapy is prevalent in the treatment of Graves' disease. Adverse effects in pediatrics are not well-described. Case presentation A 13-year-old female underwent RAI therapy for Graves' disease.

Pediatric stroke as the presenting symptom of new-onset type 1 diabetes mellitus without DKA: case report and literature review.

Background Stroke and other neurologic complications are rare in pediatric type 1 diabetes mellitus (T1DM) without severe diabetic ketoacidosis (DKA) or poor glycemic control. Case presentation A previously healthy, 10-year-old female presented with acute thalamic stroke, non-acidotic new T1DM diagnosis and negative hypercoagulopathy workup. She received routine insulin therapy and aspirin, and returned to neurologic baseline within a year without stroke recurrence.

Improving detection of hypertension in girls with turner syndrome using ambulatory blood pressure monitoring.

Background/aims: Turner syndrome (TS) is associated with increased mortality due to cardiovascular disease and a dramatically higher rate of aortic dissection. The recognition and treatment of hypertension in this population is critical. We sought to assess the ability to detect blood pressure (BP) abnormalities comparing ambulatory blood pressure monitoring (ABPM) with conventional BP measurement methods.