ESPE Abstracts

Background: COVID-19 restriction measurements have determined profound alterations in glucose and insulin metabolism in children with overweight and obesity. However, to date few data have explored the effects of the relaxation of restrictions in the pediatric population. Thus, we compared anthropometric and OGTT data in children with overweight and obesity during the two years after (2021-2023) compared to the two years during (2020-2021) and before (2018-201...

Background and aims: The development of insulin resistance (IR) may be influenced by inflammation in overweight/obese individuals. To identify indicators of IR, new markers of inflammation and systemic inflammation such as leukocyte (WBC) and platelet counts (PLT), the neutrophil-to-lymphocyte ratio (NLR) have been suggested. This study aims to investigate the association between these markers and IR in a group of overweight and obese.<s...

Flash glucose monitoring is now included in the Portfolio of Services of the Public Health System of Andalusia in Spain. We enrolled 145 paediatric T1D diabetes patients into a prospective, interventional study of the impact of the FreeStyle Libre system on HbA1c levels in this population, as well as additional measures of glycemic health, such as Time in Range (TIR) and Time Below Range (TBR). Subjects were trained in use of the FreeStyle Libre system at the start of the stud...

Background/aims: The high complexity of Pediatric reference ranges across age, sex and units impairs clinical application and comparability of steroid hormone data, e.g., in CAHs. We developed a Multiples-of-Median (MoM) normalization tool to overcome this major drawback in Pediatric Endocrinology.Methods: LC–MS/MS data comprising 10 steroid hormones representing 905 controls (555 males, 350 females, 0 to >16 years) from two previous datasets we...

Background: Autoimmune diseases (AIDs) have familial aggregation and frequently share a common genetic background, but few studies have evaluated autoimmune clusters in children with AIDs and their families.Objective and hypotheses: To identify clusters of AIDs in children and their first-degree relatives.Method: A cross-sectional study was performed in subjects with an AID of pediatric onset (<18 years) recruited at Pediatric ...

Background: The MAMLD1 gene (Xp28) is thought to cause disorder of sex development (DSD) in 46, XY patients, mostly presenting with hypospadias, and, recently, also gonadal dysgenesis. However, there is some controversy about the role of MAMLD1 in sex development because i) some MAMLD1 variants are also detected in normal individuals, ii) others are not present in all affected DSD individuals of the same family; iii) several MAMLD1 mutations...

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

Background: In vitro studies suggest a broader role for aldosterone, beyond elevating blood pressure. Clinical data support the notion that aldosterone can directly alter the function of the immune system and can participate in low-grade inflammation which leads to blood pressure elevation and end organ damage.Objective and hypothesis: To assess in humans, whether aldosterone plasma levels and mineralocorticoid receptor (MR) expression associate...

Introduction: Cortisol homeostasis dysregulation has been associated to essential hypertension in adults. Higher levels of cortisol have been described in preterm-born individuals, who have also a higher risk of hypertension at younger ages. Several enzymes modulate peripheric cortisol metabolism. The 11b-hydroxysteroid dehydrogenase (11b-HSD) type 2 metabolizes cortisol into cortisone, preventing mineralocorticoid receptors’ activation by cortisol. The i...

Background: Multiple endocrine neoplasia type 2B is a rare genetic syndrome caused by germline mutations in the RET proto-oncogene. Approximately 75% of MEN2B cases are sporadic and caused by de novo RET mutations, whereas 25% of cases occurs in families with an autosomal dominant inheritance. The most common RET mutation found in 95% of MEN2B patients is the substitution of the amino-acid threonine for methionine at codon 918. In infants with de novo mutation...