ESPE Abstracts

Background: Hypophosphataemic rickets is a rare, and challenging condition to diagnose as the biochemical and radiological features are subtle compared with the more common calcipaenic rickets. Retrospective review of 4yr-old girl with PHEX mutation initially managed as Blount’s disease with surgery showed low (0.93 mmol/l), but within reference interval phosphate levels at initial presentation which caused some diagnostic uncertainty. Paediatric phospha...

Background: Proteins encoded by LEP, LEPR and MC4R genes are principally involved in driving the leptin-melanocortin pathway. Mutations in these genes induce a rare and severe form of monogenic obesity but the long-term evolution of these afflictions is unknown. Here, we carried out a clinical investigation on 132 children with LEP, LEPR and MC4R deficiency from Pakistan to evaluate progression of the disease and its impact on co-mor...

Introduction: Abdominal subcutaneous adipose tissue (SAT) is subdivided into two depots by the fascia of Scarpa. The deep SAT (dSAT) and superficial SAT (sSAT) are morphologically and metabolically distinct, with dSAT reportedly being more similar to visceral adipose tissue (VAT) in terms of elevating the risk for obesity-related complications. Conversely, sSAT appears to be more similar to lower-body SAT. The relationship between dSAT and metabolic disease ha...

Background: The increase of global childhood obesity has led to an increase of associated co-morbidities also at a young age. The pro-inflammatory state and insulin resistance are two master regulators of several complications, including hypertension and pre-diabetes frequently connected in a complex crosstalk.Aim: To evaluate the relationship between glucose alterations and blood pressure and the pathogenetic involvemen...

Background: The rapid advancement in understanding molecular mechanisms, and the availability of genetic testing, has led to a paradigm change in many endocrine disorders. Making an accurate diagnosis enables tailored follow-up, treatment, and family genetic counselling. However, a cooperation is required, since the endocrinologist has a more profound understanding of the disorders, but the geneticist is usually better skilled in analyzing genetic results and ...

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: With the increasing survival rate of extremely premature infants, neonatal thyroid dysfunction is more frequently observed clinically. Despite the guidelines, the timing of screening for neonatal thyroid function remains controversial, especially for premature infants. At present, there is no unified standard for serum FT3, FT4 and TSH levels of newborns of different gestational ages and postnatal days.Objective:</str...

Introduction: Thyrotoxicosis is a clinical manifestation that arises due to excessive amounts of circulating thyroid hormone in the body with a subsequent hypermetabolic state. The condition has multiple aetiologies of which Graves’ disease accounts for the most cases in children and adolescence. Symptoms in children are often more obscure than those seen in adults which may contribute to diagnostic delay of the condition. The aim of the study is to asse...

Background: Physical activity (PA) has been conclusively shown to reduce the incidence of diabetes in prior research. A 2,000 steps/day increment yielded hazard ratio (HR) 0.88 for incidence of diabetes 95% CI 0.78–1.00; P=0.046 (Garduno, 2022). Despite this, the role of different factors associated with higher adolescent after-school PA is understudied after the coronavirus pandemic, during which a greater proportion of parents worked remotely....

Background: Metabolic syndrome (MetS) is related to increased cardiovascular complications of obesity. The triglyceride-glucose (TyG) index is frequently used as an indicator of insulin resistance in adults. However, there is scant information on the TyG index in the morbidly obese Pediatric population, nor is its correlation with the components of the metabolic syndrome (MetS).Methods: We compared the use of TyG vs athe...