ESPE Abstracts

Background: Implementation of type 1 diabetes (T1D) in children is constant from 20 years. In combination with insulin treatment, therapeutic patient education (TPE) is essential to improve care and prognostic. The use of video games as educational support appears suitable for learning in children, innovative, and interesting to respond to the increase in TPE needs in T1D and current economic constraints.Objective and hypotheses: To validate in a proof o...

Objective: Fear of hypoglycemia interferes frequently with metabolic control of type 1 diabetes especially in patients under 5 years of age who are at high risk of hypoglycemia and low metabolic control. Medtronic Minimed 640 G insulin pump with Smart Guard technology (suspension of insulin perfusion in predictive hypoglycemia situations) appears to be an adequate system for these patients by reducing the risk of hypoglycemia.Research design and methods:...

Background: Early postnatal administration of recombinant human gonadotropins can be an effective way to mimic mini-puberty, and thus increase penile growth in infants with congenital hypogonadotropic hypogonadism (CHH). We report for the first time its efficacy on an infant with partial androgen insensitivity syndrome (PAIS).Objective and hypotheses: To evaluate the benefits of a continuous subcutaneous infusion of recombinant human gonadotropins (CSCI-...

Background: The ability to concentrate iodide actively is a characteristic feature of the thyroid gland. This function is mediated through the sodium iodine symporter (NIS), a glycoprotein located in thyrocytes’membrane. Iodide transport defect (ITD) by NIS defects can result in hypothyroidism with variable degree of goiter and low to absent radio iodide uptake. Mutations in SLC5A5 gene encoding NIS are reported to be a rare form of dyshormonogenetic congenital hypothyroi...

Background: Congenital hypothyroidism (CH) is referred to dyshormonogenesis for 15 to 30%. Homozygous mutations associated have been demonstrated in DUOX2, TPO, TG, SLC5A5 (NIS), SLC26A4 (Pendred), DUOXA2, and IYD (DEHAL1) genes.Objective and hypotheses: Previous studies focusing on one or few thyroid-specific genes have proved not to be comprehensive enough for understanding physiopathological mechanisms of HC with dyshormonogenesis. Emerging diagnostic...

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: Congenital hypothyroidism (CH) is the most frequent endocrine disease in infants with prevalence ratio in the range of 1:2000–1:4000 new-borns. The disorder can be permanent (CHP) or transient (CHT). CH can be classified into two main groups: Dysgenesis, which accounts classically for 80–85% of cases and dyshormonogenesis for remaining 15–20%. From the last decade, studies described a upward trend for CH prevalence and changes in groups’ proport...

Background: DICER1 is a member of the Ribonuclease III family that plays a crucial role in the biogenesis and the maturation of microRNAs. Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations: in addition to first described pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumours, individuals may also develop benign (multinodular goiter MNG, cystic nephroma\.) or malignant tumours as differen...

Background: The familial non-autoimmune hyperthyroidism (FNAH) is a hereditary disease caused by dominant activating mutations of the TSH receptor (TSHR) gene and rare in the paediatric population.Case presentation: A 20-month girl was referred for tachycardia. In personal history, she was delivered at 35 weeks of gestation by caesarean for fœtal tachycardia; she had been hospitalised at 1 and 5 months for diarrhoea and tachycardia was noticed. Clin...

Background: Paediatric diabetic ketoacidosis (DKA) management should be regulated by specific protocols. Following the Canadian Diabetes Association recommendations, our paediatric tertiary care hospital was provided with such a protocol in 2009.Objective and hypotheses: Assess the proportion of DKA episodes that are marked by non-adherence to our DKA management protocol (DKAp). We suspected a moderate non-adherence rate.Method: We...