ESPE Abstracts

The 1st lockdown from March to May 2020 probably led to an increase in the number of cases of idiopathic central precocious puberty in several European countries. Two Italian studies showed this, as well as a Spanish and a Turkish one. We performed a retrospective study with all the children who came to our department for a 1st appointment or a check-up for pubertal signs between 01/04/2017 and 31/03/2021. We checked the data of 765 files and kept only the children with a diag...

Background: In 2013, Abreu et al identified loss-of function mutation in the MKRN3 gene of fifteen patients from five families with idiopathic central precocious puberty (iCPP), highlighting the implication of this maternally imprinted gene in this still poorly understood condition. Since this study, other mutations have been described and now represent the most common genetic cause of iCPP.Objective: The objective of th...

Background: The transcription factor Gli-similar 3 (Glis3) is predominantly expressed in the pancreas and it has a critical role in the development of insulin producing β-cells, thyroid and kidney. Mutations in GLIS3 is a rare cause of neonatal diabetes associated with congenital hypothyroidism, congenital glaucoma and polycystic kidney. We report a new case from consanguineous parents with homozygous novel mutation in GLIS3 gene.<p class="abstext"...

Background: Congenital isolated ACTH deficiency (IAD) is a rare inherited disorder that is clinically and genetically heterogeneous. Patients are characterized by low or absent cortisol production secondary to low plasma ACTH despite normal secretion of other pituitary hormones and the absence of structural pituitary defects. Mutations in the TBX19 gene, a T-box factor selectively expressed in developing corticotroph cells, have been identified so far only in cases of neonatal...

In Belgium, neonatal TSH screening for congenital hypothyroidism has been performed between day 3 and 5 of life since the late seventies. In January 2015, a policy of early discharge of healthy neonates was implemented so that the neonatal screening strategy had to be adapted. Between January 2015 and September 2019, dried blood spot sampling was mostly collected at home AFTER discharge at 72 h of life (Newborn Screening Strategy 1 (NBS1)). After October 2019, sampling was mos...

Background: Type 1 diabetes (T1D) in teenagers is challenging: the constraints of diabetes add up to the specificities of a delicate age; moreover, this period of life is often associated with impaired metabolic control (i.e. higher hemoglobin A1c - HbA1c). Therapeutic Patient Education (TPE) enables people with chronic diseases to manage their illness and yields benefits in both health and financial terms. The first step of TPE approach is to make an “educational diagnos...

Background: Carnitine deficiency (CD) has been reported in children at time of type 1 diabetes (T1D) diagnosis. By impairing free fatty acid ß-oxidation in liver, muscle mass and pancreatic ß cells, CD might impair glucose homeostasis and residual insulin secretion. We postulate that reversed of these FAO defects may help regenerate a healthier ß cell mass and increased the diabetes honeymoon duration.Objective: Evaluate the effects of car...

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: Children with type 1 diabetes (T1D) and their parents need personalized i) information about the disease and glucose homeostasis and ii) knowledge and guidelines about diet and insulin therapy.Objectives: To set a complete educational program that allows children with T1D to improve disease management and daily life.Methods: Education modules were written and trained with children and parents at outpatient visits. Each ...

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...