ESPE Abstracts

Background: International guidelines recommend specialised medical and psychosocial care for people with DSD by multidisciplinary teams in designated centres. The DSDCare project, funded by the German Federal Ministry of Health from 05/2020-08/2023, aimed to implement a standardised care model for people with DSD, and evaluate quality of care in 10 centres in Germany.Methods: Initially, quality indicators for structural,...

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. The association between T2D and non-alcoholic fatty liver disease (NAFLD) has been described; this increases the risk of coronary heart disease (CHD). Recent evidence suggests that sizes and composition of HDL may be more important that HDL-C levels in predicting CHD. There is not data regarding the HDL subclasses distribution and composition in T2D youths with hepatic steatosis (HE).<p c...

Background: IGF1 resistance syndrome (IGF1RS) is characterized by intrauterine and postnatal growth deficit with normal or supranormal IGF1 levels. Additional features may include intellectual deficit, microcephaly and dysmorphisms. IGF1RS may be caused by genomic or genetic defects affecting the IGF1R locus (15q26.3).Objective and hypotheses: To investigate the frequency of IGF1R mutations in a cohort of patients with pre- and/or postn...

Background: The SCOPE French retrospective study follows children affected with growth hormone (GH) disorders treated with recombinant human GH (r-hGH) therapy via the easypod® connected injection device for up to 5 years.Aim: To show the results from an interim analysis of the SCOPE study analysing adherence to r-hGH therapy in a real-world setting and its effect on catch-up growth.Met...

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseous heteroplasia refer to heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, stocky build, subcutaneous ectopic ossifications, as well as laboratory abnormalit...

Introduction: Noonan syndrome (NS) is an autosomal dominant disorder that involving multiple organ systems, with an incidence of 1:1,000 to 1:2,500.The clinical features as short stature, dysmorphic facial features, congenital heart defects most commonly pulmonary valve stenosis, typical chest, cryptorchidism. The PTPN11 gene is located on the long arm of chromosome 12q24.1 and encodes for the non-receptor protein tyrosine phosphatase SHP-2 (SHP2), generating ...

Introduction: Hypothyroidism is the commonest endocrine disorder which associates with Trisomy 21. It affects the physical and intellectual development of children. It can be either congenital or acquired.Case report: 9 years old boy diagnosed patient with Trisomy 21; presented with the complaint of bowel not opened for 3 weeks and grossly distended abdomen. On the day of admission, he had low-grade fever and settled wit...

Aims: Non-alcoholic fatty liver disease (NAFLD) is the asymptomatic involvement of liver due to fatty infiltration of hepatocytes seen commonly in obese children. Elevated serum aminotransferase level serves as a surrogate marker of NAFLD. The recommended ALT cut-offs for screening for NAFLD in obese boys and girls are 22 and 25U/L respectively. We determined the prevalence of NAFLD amongst obese children in our population based on Liver Ultrasonography(USG), ...

Introduction: Although many adolescents with gender dysphoria (GD) are being treated with GnRH analogues (GnRHa) and gender affirming hormones there is a paucity of data on the effects and side effects of this treatment in this population. We aimed to study short-term outcome of testosterone treatment in male adolescents with GD.Methods: Sixty-two adolescents who had been treated with GnRHa, and subsequently with testost...

Objective: To estimate the prevalence of Celiac disease (CD) and autoimmune thyroid dysfunction (AITD) in children with Type 1 Diabetes.Study Design: The analysis included 177 (83 girls, 94 boys) children and adolescents with a diagnosis of Type 1 Diabetes who were followed up for a duration of more than 2years at Sir Ganga Ram Hospital, a tertiary care hospital in Northern India.Results</s...