ESPE Abstracts

Objective: To evaluate musculoskeletal development using pQCT in children with coeliac disease (CD) on gluten free diet (GFD) compared with age and gender matched healthy controls.Method: Prospective cross sectional study. 38 children (18 males) with CD on GFD for a duration of 3.6 years (0.6, 12.5) and 38 age and sex matched healthy controls underwent pQCT at 4, 38 and 66% tibial sites. Bloods were collected in CD children only. Results reported as medi...

Introduction: Mitochondrial-derived peptide (MOTS-c) is originated from the 12S ribosomal region of mitochondrial DNA. MOTS-c functions as an activator of AKT and AMPK, which are involved in the insulin signaling pathway. In experimental studies, MOTS-c administration was shown to reduce insulin resistance and obesity. Besides, MOTS-c levels were decreased and negatively correlated with insulin resistance in obese male children. In male cases, the MOTS-c</...

Introduction: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of age. It is a rare condition occurring in only one in 100 000–300 000 live births. Clinically, NDM subgroups include transient (TNDM) and permanent NDM (PNDM). TNDM is most frequently caused by abnormalities in the imprinted region of chromosome 6q24.Case Report: A 18-day-old male was referred from another clinic due to diabetic ketoaci...

Background: Preservation of C-peptide is important and has become regarded a relevant endpoint as already a quite small residual C-peptide seems to be related to both less acute and late diabetes complications.Objective: To assess the residual C-peptide secretion in pediatric patient with T1D.Method: Cross-sectional study of 157 patients with T1D. We analyzed: age at diagnosis, age at time of study (years), sex, diabetes duration (...

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

Background: The hallmark of congenital hyperinsulinism (CHI) is the demonstration of detectable plasma insulin during hypoglycaemia. Insulin can be undetectable in a significant proportion of patients with CHI. Plasma samples for insulin requires rapid and careful handling for reliable results. There is little published data on the value of C-peptide in the diagnosis of CHI.Objective and hypotheses: To assess the usefulness of C-peptide in the diagnosis ...

Introduction: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the Fas apoptotic inhibitory molecule 2 (FAIM2) gene, the high-affinity alpha subunit (CD25) of the interleukin-2 receptor (IL-2RA) gene, the cytotoxic T cell antigen 4 (CTLA-4) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective: To estimate...

Background: C-peptide secretion is the most accurate measurement of residual β-cell function in type 1 diabetes (T1D) and even residual levels seem to positively correlate with a lower probability of complications.Objective and hypotheses: Identify key determinants to the evolution of the β pancreatic cell function, measured by fasting C-peptide (FCP).Method: Prospective study of patients diagnosed with T1D, with evaluati...

Background: Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,Xiq, although mosaicism including the presence of a Y chromosome has been well documented. It is associated with increased risk of gonadoblastoma (GB).Objective and hypotheses: To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X, 47,XY+18 karyotype.Metho...