ESPE Abstracts

Introduction: Type 1 diabetes mellitus (T1DM) is associated with significantly higher cardiovascular disease mortality compared to the general population, even when glycated hemoglobin (HbA1c) is less than 7.0%. Inadequate body composition may increase the risk.Aim and Methods: To evaluate body composition of a group of pediatric patients with T1DM, from Portuguese Pediatric Endocrinology/Diabetic Clinic, using the bioim...

Background and Aims: In light of the recent evidence suggesting an increase in idiopathic central precocious puberty (ICPP) cases during the COVID-19 pandemic, this study aimed to assess the proportion of patients referred for precocious puberty (PP) and, within this group, the number of ICPP cases diagnosed before and during the pandemic. Additionally, we compared the demographic, anthropometric, and clinical characteristics of ICPP patients between the two g...

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...

Introduction: Kenny-Caffey Syndrome Type 2 (KCS2) is a rare autosomal dominant genetic disorder caused by variants in the FAM111A gene, leading to cortical thickening and medullary stenosis of long bones. It is characterized by primary hypoparathyroidism, electrolyte disturbances, skeletal dysplasia with delayed closure of the anterior fontanelle, hypertelorism, and short stature. Intellectual development is normal.Case Report:</...

Introduction: LEPR regulates body mass via a negative feedback mechanism between adipose tissue and the hypothalamus. Leptin resistance is characterized by reduced satiety, over-consumption of nutrients, and increased total body mass. Often this leads to obesity, which reduces the effectiveness of using exogenous leptin as a therapeutic agent. Setmelanotide is an approved treatment for severe obesity due to LEPR in patients older than 6 years old.<p class=...

Cleidocranial dysplasia (CCD) is a rare genetic condition affecting bone and cartilage growth, primarily transmitted in an autosomal dominant manner. Characterised by the triad of clavicular hypoplasia, delayed closure of cranial sutures, and dental anomalies, CCD was first described in 1765, with its hereditary nature established in 1898. The condition is associated with mutations in the RUNX2 gene, which is important in osteoblastic differentiation. With a prevalence of 1:1,...

The increasing prevalence of obesity and associated comorbidities worldwide is a major problem for national health care systems. For this reason, it is of importance to gain knew knowledge about the central regulation of body weight and to identify factors which are leading to an increased individual risk to gain weight. Despite large genome weight associations studies and related genetic risk scores, the regulation of inter-individual body weight variability remains elusive. ...

Capillary hyperglycemia in critically ill infants is a situation with numerous interfering factors, from acute illnesses to concomitant use of medications and may or may not be a manifestation of endocrinological urgency. Clinical case: Female patient, 2 months old, with failure to thrive, hepatomegaly without cholestasis, polyuria and compensated metabolic acidosis. On admission, capillary blood glucose levels above 200 mg/dL were measured even without concomitant use of cort...

Background: Type 1 diabetes mellitus (T1DM) is one of the most frequent chronic diseases in the pediatric age and demands constant and rigorous glycemic control. Intermittently scanned continuous glucose monitoring (isCGM) systems are a helpful tool in diabetes management. Second-generation isCGM contain alarms to assist in the detection of hyper or hypoglycemia. We aimed to compare the sleep quality of principal caregivers of T1DM pediatric patients who use i...

Classic features of inactivating PTH/PTHrP Signaling Disorder 2 or 3 (iPPSD2, iPPSD3), i.e. former pseudohypoparathyroidism include multi-hormone resistance, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity and a molecular defect at the GNAS region. In addition, patients may present with less-known features including craniosynostosis (CSO).Objective: To describe the prevalence of CSO in a cohort ...