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. We use 3 clinical cases to highlight the role of both patient and clinician education in the prevention of adrenal crisis, review what is known about education related to adrenal insufficiency and provide a possible approach to addressing education deficits with the aim of reducing the risk of adrenal crisis through both patient and clinician education.

Rare PHEX 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, PHEX 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. This rare PHEX variant (c.1949T>C, p.Leu650Pro) further supported the clinical diagnosis of XLHR. Treatment with burosumab (an anti-FGF23 monoclonal antibody) normalised phosphorus and alkaline phosphatase levels and improved her bowing. The diverse phenotypic presentation of this variant can result in delayed diagnosis and highlights the importance of prompt assessment of phosphorus levels in patients with skeletal deformities to ensure timely recognition and treatment.

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.Leu122Val is listed in that database as "disease-causing;" however, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain significance." Both databases reference the same Italian pediatric patient reported by Massa et al in 2001, but no phenotypic description of the patient is included in the original article. We report a pedigree of three patients over two generations affected with GCK mutation c.364C > G (p.Leu122Val) to support the clinical significance of this mutation and to provide the first phenotypic description of patients with this particular mutation.

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. We review the literature on the concomitant presentation of DKA and hypertriglyceridemia, as well as its pathophysiology and treatment.

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. Eight days later, she developed facial pain and forehead burning. She was diagnosed with sinusitis and started on pseudoephedrine with resolution in 24 h. Conclusions She endured prolonged discomfort due to an under-recognized adverse effect of RAI. Studies identify the nose as a site of RAI accumulation and smaller nasal passages may predispose children to sinusitis. We report the first pediatric case of sinusitis following RAI. With the increasing use of RAI to treat Graves' disease, clinicians must recognize this adverse effect.

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. Conclusions The contribution of non-acidotic hyperglycemia to stroke risk is better described in adults. Even though unable to prove causality, this case should at least raise awareness of the possible association of pediatric new-onset diabetes and stroke for optimal outcomes.

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. We hypothesized that ABPM would improve detection of hypertension and alter management strategies. METHODS: Twenty-three girls with TS underwent BP measurements using an automated oscillometric method and a manual mercury sphygmomanometer. Twenty-four-hour ABPM was performed (Spacelabs 90217, Issaquah, Wash., USA). BP values were compared to normative data based on height and sex for ABPM, and for age, height and sex for automated oscillometric and manual measurements. RESULTS: Five (22%) subjects were found to have ambulatory hypertension (3 of these with severe hypertension). Three subjects had prehypertension using ABPM measurements. Only 1 of the 5 patients with ambulatory hypertension was categorized as hypertensive using manual BP measurements. Twelve subjects (52%) had nocturnal hypertension. ABPM data led to a change in medical management of hypertensive patients with initiation of antihypertensive therapy. CONCLUSIONS: ABPM is advantageous in TS, as it improves detection of hypertension, identifies those with non-dipping BP patterns, and changes medical management of patients.