ESPE Abstracts

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: Nutrition plays a pivotal role in long-term survival in cystic fibrosis (CF). Early insulin treatment for glucose intolerance promotes anabolism and stabilises lung function. However there is a variation in cystic fibrosis related diabetes (CFRD) screening across centres (recommended age for start of CFRD screening varies between 10 and 12 years as per CF trust, CFF & ISPAD guidelines).Aims: To assess if early screening of glycaemic statu...

Background: Alterations in endocrine functions and low-grade systemic inflammation represent fundamental characteristics of obesity. These biological systems have been repeatedly linked to fatigue symptoms.Objective and hypotheses: The aim of the study was to assess the relationship between fatigue symptoms and metabolic/inflammatory markers in a sample of non-diabetic obese children.Method: The study was conducted in 41 obese (med...

Background: Non functioning pituitary macro adenoma is rare during childhood. Therapeutic options are reduced to surgery and radiotherapy. Proton therapy is a particle therapy that uses a beam of protons to irradiate the tissue with the chief advantage that as a charged particle the dose is deposited over a narrow range and there is minimal exit dose.Objective and hypotheses: Proton therapy is largely used in France for paediatric craniopharyngiomas irra...

Background: Profound hypothyroidism due to Hashimoto thyroiditis (HT) is a cause of severe growth arrest in children. Although it is commonly thought that thyroxine replacement fully restores height deficit, no data on catch up growth are available.Objective and hypotheses: Assess the growth pattern and final height in a series of 10 patients with severe HT afec L-thyroxine therapy was initiated.Method: Monocentric retrospective ob...

Background: Patients affected by pseudohypoparathyroidism type 1b (PHPI-b) develop resistance to PTH leading to hypocalcemia and hyperphosphoremia, which is often associated with resistance to TSH. PHP-Ib is associated with methylation changes at one or several differentially methylated regions (DMRs) within the GNAS complex locus, located at 20q13.2–13.3. This locus gives rise to several different transcripts (NESP55, XL, A/B), with varying patterns of imprinted expressi...

Background: Early recognition and treatment of cystic fibrosis related diabetes (CFRD) significantly improves respiratory and nutritional status of patients with cystic fibrosis (CF). American Diabetes Association (ADA) guidelines recommend annual screening with oral glucose tolerance test (OGTT) for all affected children from age 10 years.Objective and hypothesis: We sought to determine if screening for CFRD was optimal and to determine if early treatme...

Background: Epidemiological evidence in Europe indicates the increasing prevalence of premature puberty, especially in girls. This may be attributed to in utero and early-life exposure to environmental estrogen-like compounds present in pesticides, plastics (bisphenol A, phtalates …) and beauty products.Objective and hypotheses: The aim of this study was to assess the prevalence of premature thelarche (PT) and central precocious puberty (C...

Background: Little is known about the long-term social outcome of diabetic children.Objective and hypotheses: This study aimed to describe social and professional life, quality of life (QOL) and sexuality at adult age of children and adolescents with type 1 diabetes (T1D).Method: Participants (n=388, age=28.5±3.1 years; duration of diabetes=17.0±2.7 years, recruited from a French national register) completed a qu...

Background: Congenital primary adrenal insufficiency (PAI) can occur as three types: isolated glucocorticoid or mineralocorticoid deficiency, or global adrenal insufficiency, with combined mineralo and glucocorticoid deficiency. Once the most frequent genes (CYP21A2, ABCD1…) have been discarded by biological tests, many other genes may be involved in each type, and one gene may be responsible of different types. Consequently, there is no real decision tree in th...