ESPE Abstracts

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...

Aims: Historical I-CAH data shows considerable variation in the management of 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) in infancy despite existence of several guidelines. Using the I-CAH registry we analysed contemporary early infancy natural history data, creating benchmarks as part of continuous quality improvement.Methods: Of 136 infants born in 2018-2023 and treated for 21-OHD CAH withi...

Background: In 2019, the International CAH Registry (I-CAH) performed a benchmarking exercise of acute adrenal insufficiency related adverse events including adrenal crises (AC) and sick day episodes (SDE).Methods: In 2022, I-CAH data on children aged <18 years at first visit with 21-hydroxylase deficiency CAH from 35 centres in 19 countries were analysed to examine the current occurrence of SDE and AC and compare it ...

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...

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...

Background: Tumor induced osteomalacia (TIO) is clinically characterized by bowed, short and painful legs in children and bone pain if onset in adolescent or adult life. Paraclinical, TIO is characterized by hypophosphatemia, low levels of 1.25-OH2-vitamin D (1.25 OH2D), and elevated levels of fibroblast growth factor 23 (FGF23). TIO is due to tumor secretion of FGF23, which inhibits phosphate re-absorption in the proximal renal tubules a...

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: In the last 50 years bone age has been manually evaluated using the method of Tanner and Whitehouse. Recently automated image analysis has been introduced for bone age determination. The automated method shows good agreement with manual evaluation; further, the precision of the automated method may be higher compared to the manual method.Objective and hypotheses: To report on the discrepancy of bone age determination using the manual TW2 meth...

Background: Studies in adults with type 1 diabetes (T1D) have indicated that adiponectin is negatively associated and leptin positively associated with measures of a residual beta cell function (RBF).Objective and hypotheses: To compare serum adiponectin and leptin levels and their ratio in children with T1D for 3–5 years with and without RBF and in healthy children.Method: We included 342 children (173 females) with T1D, here...

Background: The large phenotypic spectrum of Disorders of Sex Development are caused by mutations in many different genes, but a large phenotypic spectrum of sexual disturbancies may also be seen with different mutations in the same gene.Objective and hypotheses: To report on one new mutation in the 5 alfa reductase (SRD5A2) gene, and describe the extremes of the phenotypic spectrum of 5 alfa reductase deficiency presented in two patients.<p class="a...