ESPE Abstracts

Background: Medical nutrition therapy is one of the cornerstones of the treatment of type 1 diabetes. Nutrition is affected by many factors including ethnicity, socioeconomic background, and culture.Objectives: To evaluate the nutritional status in a cohort of children with type 1 diabetes from different ethnic backgrounds and to seek differences among the groups. In addition determine the effect of nutrition on metaboli...

Human imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of gene dosage at imprinted loci across the genome. Causes of disease include point mutations, structural variants, uniparental disomy and ‘epimutations’ with a parent of origin specific effect. Further complexity underlies the causes of the epigenomic errors that may be the result of genetic and environmental factors at different times during the de...

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disease resulting from loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Understanding of the clinical presentation is largely based on single case reports, which presents challenges for the recognition and diagnosis of HPP.Objective: To better understand disease presentation, we surveyed the literature to characterize clinical features and presentat...

Background: Hypoglycemia is a common side effect of insulin replacement therapy in patients with type 1 diabetes mellitus (T1DM). With the advancement of diabetes technology, sensor-augmented pump therapy (SAP) with predictive low glucose suspend feature offers a potential solution for hypoglycemia in patients with T1DM. However, evidence from randomized trials about the efficacy and safety of PLGS is limited.Method: We ...

Background: Kawasaki disease (KD) is an acute inflammatory disorder, associated with systemic vasculitis including coronary artery aneurysms (CAA). Treatment with intravenous immunoglobulin (IVIG) can resolve inflammation. However, about 20% patients show resistant to IVIG treatment and some of the cases required additional treatments. Recently, IVIG plus adjuvant glucocorticoid hormones (GC) has been shown to be an effective therapy for these patients, su...

Background: Expression of SHOX, a transcription factor implicated in skeletal development, is regulated by the interaction of two promoters, weak, P1 (exon 1) and strong, P2 (exon 2), with at least, seven enhancers. SHOX haploinsufficiency, due to mutations in SHOX or its enhancers, explains ~70% of Leri-Weill dyschondrosteosis (LWD) and ~2.5% idiopathic short stature (ISS) cases whilst the underlying molecular mechanism in the remaining is unknown.<p...

Background: SHOX, located on the pseudoautosomal region 1 (PAR1), encodes a transcriptional factor implicated in human skeletal growth. Alterations in SHOX or its regulatory elements are observed in ~70% of patients with Leri–Weill dyschondrosteosis (LWD), in ~90% with Langer mesomelic dysplasia (LMD) and ~2.5% of patients with idiopathic short stature (ISS). SHOX deletions/duplications are a frequent alteration, with the majority encompassing the entire gene.<p class...

Research Aim: Diabetes type 1 can negatively influence testicular function and fertility but the pathomechanisms on the testicular level remain to be elucidated. Therefore, the aim of the study was to evaluate effects of diabetes mellitus type 1 disease on testicular function.Material and Methods: BB/OKL rats developed type 1 diabetes during adolescence. Rats were treated with different Insulin implants to achieve suffic...

Background: Thyroglobulin (Tg), a protein synthesized uniquely in the thyroid gland, may be elevated in primary congenital hypothyroidism (CH) due to increased TSH drive, absent in true athyreosis and Tg deficiency, and very elevated in some types of dyshormonogenesis.Hypothesis: Serum Tg at the time of newborn screening may reflect the amount of thyroid tissue present in apparent athyreosis and thyroid ectopia, and henc...

Background: Primary adrenal insufficiency (PAI) is characterised by the immune destruction of the adrenal cortex and leads to impaired production of the adrenal hormones. It is a potentially life-threatening condition that can be managed if identified early. The onset is insidious and often difficult to diagnose. Screening for adrenal autoantibodies is routinely performed in autoimmune conditions such as type 1 diabetes mellitus (T1DM). The guidance around the...