ESPE Abstracts

With the increased number of patients with diabetes on one hand and the shortage of professional teams of health care providers (HCP) worldwide on the other hand, new ways of providing medical care to patients with diabetes are needed. Decision Support Systems (DSS) and emerging tools are developed in order to help HCP during patients’ office visits and to help patients navigate their own metabolic control between office visits. Recently, tools of DSS have been tested in ...

Management of Type1 diabetes is a challenge for both patients and health-care providers. The majority of patients worldwide are not reaching the desired glycemic control. Barriers to good control include risk of hypoglycemia, glucose monitoring limitations, technologies of insulin administration, scarceness of diabetes experts their limited time required in order to give the appropriate level of personalized treatment and supervision during patients’ visits. Other reasons...

Despite the fact that patients with diabetes and medical staff are doing their best to achieve tight glycemic control, most patients all over the world do not achieve the goal. Good glycemic control is crucial to prevent diabetes related complications as well as hypoglycemic episodes, seizure, coma and death. The Diabetes wiREless Artificial Pancreas ConsortiuM (DREAM) was established by three diabetes centers in Slovenia, Germany and Israel, with a goal to reduce the risk of ...

The daily treatment of pediatric patients with diabetes is challenging for patients, parents and medical teams. This is probably the reason why most patients all over the world do not meet the targets of glucose control defined by world organizations like ISPAD, EASD and the ADA as the safe zone for preventing complications, extending life expectancy and improving quality of life. New emerging technologies are in the pipeline of both academic centers and industry that promise ...

Neonatal diabetes is defined by hyperglycemia either isolated or as a part of a syndrome, diagnosed within the first 6 months of life. This is a monogenic form of diabetes resulting from mutations in a number of different genes encoding proteins that play a key role in the normal function of the pancreatic β-cell. To date, over 20 genes have been identified in about 60–75% of cases. A significant breakthrough was the recognition that a large portion of patients can b...

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...

NMDA (N-Methyl-D-aspartic acid) receptors have been shown to control the timing of sexual maturation in laboratory animals. Therefore, variants in genes impacting NMDA receptor signaling might be predicted to affect human puberty. We studied an extended family with extremely delayed puberty (menarche at 16.5 - 18 years for female family members and pubertal onset at 16 years for male family members). Exome sequencing revealed a rare missense variant (F900V) in DLG2, w...

Background: Achondroplasia (Ach) is a rare growth disorder caused by a point mutation in the fibroblast growth factor receptor 3 gene that results in dysproportionate extreme short stature and can lead to a wide range of multisystemic complications throughout the individual's life with reduced quality of life. In the past, orthopaedic and neurosurgical therapies have been developed to partially improve mobility, reduce pain and prevent neurological disabi...

Background/Aims: Childhood obesity has increased markedly during the past decades.The aim of the study was to examine the changes in trends of severe obesity and related comorbidities among children and adolescents referred for evaluation at the obesity clinic in a tertiary care center in Israel.Methods: The study included patients aged 2-18 years referred for evaluation due to obesity (BMI > 9...

Background: Adolescent polycystic ovary syndrome (PCOS) may be difficult to distinguish from pubertal changes and diagnosis remains a challenge.Objective and hypotheses: To investigate the value of different biochemical parameters for the diagnosis of PCOS and also to assess the prevalence of non-classical congenital adrenal hyperplasia (NCCAH) among adolescent girls referred for clinical symptoms suggesting PCOS.Method: Retrospect...