ESPE Abstracts

Background: “Transient” Neonatal Diabetes Mellitus (TNDM) is a rare genetic beta cells dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Glucose homeostasis had not been investigated in adulthood.Objective and hypotheses: To investigate insulin secretion and insulin sensitivity in adults affected with TNDM or in their 1st degree mutated relatives.</p...

Background: Sulfonylurea therapy (SU) allows a better metabolic control than insulin in patients with neonatal diabetes secondary to mutation in potassium channel subunits (ND-K). Most of these patients have neurological and neuromotor developmental impairments whose changes under SU has not been studied in a systematic and prospective way in a large cohort.Objective and Hypotheses: To demonstrate the beneficial effect of SU on neuropsychological functio...

Introduction: The growth process in children depends on GH/IGF-1. Ghrelin is stimulator of GH synthesis. Ghrelin also stimulates the orexigenic center peptides responsible for appetite. It is synthesized in the stomach, thus its secretion may be alter by gastrointestinal tract deseases. Recently, high titers of antibodies against some neuropeptides (including anti-ghrelin) have been found in indyviduals with certain microflora components, e.g. Helicobacter pyl...

Background: Sclerostin is secreted by the osteocyte and inhibits bone formation by osteoblasts and is thus a negative regulator of bone formation. In adults, sclerostin levels increase after weight loss, which may be prevented by exercise training. The effect of weight loss on sclerostin in children is unknown.Objective and hypotheses: To compare sclerostin levels in children before and after a 10 weeks stay at a weight loss camp (WLC).<p class="abst...

Background: McCune Albright syndrome (MAS) is defined by the classic triad of precocious puberty, fibrous dysplasia of bone and café au lait skin pigmentation. However, the clinical spectrum is often more variable due to mosaic distribution of the postzygotic GNAS-mutation. Hypercortisolism occurs in a minority (5%) of patients. It is most frequently caused by nodular adrenal hyperplasia and can be life-threatening. Decisions on whether clinical management should be conse...

Turner syndrome (TS) affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating a multidisciplinary approach to care. Numerous important advances have been noted during recent years. These advances cover all specialty fields involved in the care of girls and women with TS. This new international guideline is based on an international effort with emphasis on 1) diagnostic and genetic issues, 2) growth and development during child...

Background: Type 2 diabetes mellitus (T2DM) is a chronic and disabling disease affecting increasing numbers of adolescents. Conventional medical therapy presents unique challenges and seldom stalls progression.Objective and hypotheses: The objective of this presentation is to discuss the findings of contemporary, controlled, and prospective trials of surgical therapy for adult T2DM, which demonstrate dramatic early glycemic control, improvement in cardio...

Turner syndrome is a condition in females missing a sex chromosome (45,X) or parts of the second sex chromosome. It is considered a rare condition and associated with a range of characteristics, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations of the heart, endocrine disorders, including a range of autoimmune conditions and type 2 diabetes. Morbidity and mortality is clearly increased compared with the background population a...

Background: Maturity onset diabetes of the young 2 (MODY2) is phenotypically characterized by elevated fasting and post-prandial blood glucose (BG) levels and no diabetes auto-antibodies. Inheritance is autosomal dominant, and it is caused by variants in the glucokinase (GCK) gene with resetting of the pancreatic glucose sensor to a higher level. It is essential to detect MODY 2 patients as they do not require treatment.Objective...

Objective: The programmed cell death 1 protein (PD1) is a T lymphocyte membrane receptor, which when bound to its ligand PD – L1 inactivates the cytotoxic T lymphocyte, thereby down regulating the immune response. Cancer may upregulate PD – L1 on the cell surface, further downregulating the immune response. Nivolumab, a so called check point inhibitor, is a PD1 antibody, and when bound to PD1 keep the cytotoxic T lymphocyte active. Cytotoxic T lymphocyte activation b...