ESPE Abstracts

Introduction: Regenerating endogenous pancreatic β-cells is a potentially curative yet currently elusive strategy for diabetes therapy. Mimicking the microenvironment of the developing pancreas and leveraging vascular signals, critical to pancreatic endocrinogenesis, may promote β-cell regeneration. We aimed to investigate whether recovery from experimental hypovascularization of the endocrine pancreas could trigger mouse ß-cell proliferation.<...

Generalized lipodystrophy (GLD) is characterized by near total loss of subcutaneous fat, leading to low concentrations of leptin. Complications of GLD are heterogenous, including severe insulin resistance, diabetes, hypertriglyceridemia, pancreatitis, liver, kidney, and heart disease, and reproductive dysfunction. Leptin replacement therapy using metreleptin improves many of these metabolic abnormalities. A lipodystrophy severity score (LDS) has been developed to quantify dise...

Introduction: Microalbuminuria is the earliest sign of diabetic nephropathy. Cubilin encoded by the CUBN gene is one of the receptor proteins accountable for albumin reabsorption in proximal renal tubules. Cubulin gene (CUBN) was identified as a significant locus for albuminuria. A strong association between CUBN variant rs1801239 and albuminuria was detected in general population.Aim of the work: The aim of the current ...

Background: Fasting during Ramadan, starting daily before sunrise and ending at sunset, with traditional rich meals at "Sohoor" (pre-dawn) and "Fotoor" (evening break of fast). is common among Muslims from 8 years of age. Recent use of the closed loop automated insulin delivery system (CLAIDS) including insulin pump and glucose sensor has become staple treatment of type 1 diabetes (T1D) patients and reported to safely manage glucose fluctua...

Aim: Transition to adult diabetes services is associated with deterioration in service experience and outcomes. We aimed to increase the uptake of structured education and provide opportunities for peer support. We describe the early outcomes of the innovative Transition (NHSE) pilot TraSS, to improve services for 16–24-year-old young adults (YA).Method: CODSN and YW met with YA in clinics and gained consent to inc...

Introduction: Congenital hyperinsulinism (CHI) is a rare disease affecting 1 in 25,000 to 50,000 newborns that requires emergent treatment of recurrent hypoglycemia to prevent neurological sequelae. There is a high unmet need for novel treatments due to the limited effectiveness and adverse effects associated with the current standard of care medications, namely diazoxide and somatostatin analogues.Methods: Efpegerglucag...

Introduction: Accurate height monitoring is crucial in pediatrics for assessing growth, development, nutritional status, and managing medical conditions. The traditional stadiometer, while the gold standard for height measurement, is limited by bulkiness, lack of portability, and the need for trained personnel. These challenges have spurred exploration into alternative methods. Apple's "Measure" App, utilizing the iPhone's camera and LiDAR ...

Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome, characterized by pre- and postnatal growth restriction among other features. Pathogenic variants in genes involved in the HMGA2-PLAG1-IGF2 pathway have been found to cause an SRS phenotype. Here we present four individuals with variants in the PLAG1 gene, exhibiting features of SRS. Two siblings of the same family inherited the PLAG1 variant from...

Loss of function mutations in SGPL1 (sphingosine-1-phosphate lyase) are associated with a syndromic form of primary adrenal insufficiency. A third of affected male individuals also have evidence of early primary gonadal insufficiency, with an undervirilised phenotype at birth. SGPL1 carries out irreversible breakdown of the signalling molecule sphingosine-1-phosphate (S1P) and deficiency leads to accumulation of S1P and other upstream sphingolipid intermediates to var...

Studies in adults provide convincing evidence of seasonal fluctuations in thyroid hormone levels. However, the evidence in children and adolescents is less consistent, potentially due to unaddressed confounding and the use of statistical methods not well-suited to investigate this specific issue. Using the baseline data from KiGGS (German Health Interview and Examination Survey for Children and Adolescents), an analysis was conducted among 6,071 participants aged 6 to 17 years...