ESPE Abstracts

Background: Monitoring treatment of children with classic congenital adrenal hyperplasia (CAH) is difficult and biochemical targets are not well defined.Objective and hypotheses: To analyse the urinary steroid metabolome of children with classic 21-hydroxylase deficiency (21-OHD) during treatment with hydrocortisone and fludrocortisone.Method: We retrospectively analysed 553 daily urinary steroid hormone metabolite profiles determi...

Background: Congenital adrenal insufficiency represents a life-threatening condition. Among its multiples causes, mutation of NNT1 is the most recently discovered. We had the opportunity to observe one case. NNT1 is a gene coding for a membrane protein which protects cells from oxidative stress.Objective and hypotheses: As few cases have been published until now, we describe a new case.Results: In a consanguineous (second grade) Al...

Background: There is controversy regarding cognitive affection in patients with congenital adrenal hyperplasia (CAH).Objective and hypotheses: Assess cognitive functions in children with CAH, and their relation to hydrocortisone (HC) therapy and testosterone level.Method: Thirty children with CAH due to 21 hydroxylase deficiency were compared with 20 age and sex matched healthy controls. Hydrocortisone daily dose and cumulative dos...

Background: Secondary PHA is a transient aldosterone resistance condition mostly occurring in relation with urinary system infection and/or malformations. Secondary PHA cases and very few case series have been reported in the literature. In this article, we reported a case series of eight patients including different clinic presentations which have not as yet been reported in the literatüre and their long-term follow-ups.Method: Patients who have se...

Background: The goal of treatment in children with hypophosphatemic rickets (HR) attempts to correct growth and leg deformities. However, growth is compromised despite treatment and patients are at risk of developing nephrocalcinosis in the future. Some factors (sex, age and height at diagnosis) have been related to height outcome, but little is known about the impact in growth of different dosage of treatment or alkaline phosphatase (ALP) levels.Objecti...

Background: Early diffuse hyperinsulinism represents a life- and brain-threatening condition. Besides enteral or parenteral additional supply, diazoxide represents the first line treatment. For diazoxide-resistant (DREDHI) patients, ablative surgery exposes to severe local complications, exocrine pancreas insufficiency and diabetes or residual hypoglycaemia.Objective and hypotheses: To evaluate the pros and cons of non-surgical treatment of DREDHI.<p...

Background: Many children with type 1 diabetes (T1D) are asked to measure blood glucose (BG) 4–6 times a day routinely to adjust insulin dosages. There is no evidence though that such high frequency is beneficial to HbA1C or glycemic profile, although this is often claimed.Objectives: We challenged ‘the more BG measurements, the better control’ dogma for alleviation of T1D burden in child life and evaluation of HbA1C.<p class="abstext"...

Background: The Best Practice Tariff (BPT) was introduced in England in 2011–2012 to improve paediatric diabetes care. An enhanced amount is paid based on the attainment of 14 standards.Objective and hypotheses: We describe the experience of a District General Hospital working with the new Tariff, including the structural changes and the effect on diabetic control.Method: We observed the changes to the local service since the ...

Background: Type 1 diabetes (T1D) is one of the most common chronic diseases in childhood and adolescence. Diabetic ketoacidosis (DKA) and severe hypoglycemia are complications of T1D and are associated with significant morbidity and mortality.Objective and hypotheses: The aim of this study was to determine the prevalence of acute metabolic complications in children with T1D admitted to the children hospital in Qazvin during 2005–2014.<p class="...

Background: Severe Hypertriglyceridemia (HTG) defined as triglycerides (TG) in blood plasma higher than 1000 mg/dl is a rare condition in childhood. Its causes are classified as primary and secondary and among these last they include pharmacological causes. Steroids associated with some chemotherapy drugs, particularly asparaginase (Asp), are a combination with special risk.Objective and hypotheses: Describe the evolution of lipids profile in LLA patient...