ESPE Abstracts

Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...

We introduce the ReTRIACt Trial (NCT05579327) of tiratricol (Triac) for MCT8-deficiency, a rare X-linked disease resulting from disordered thyroid hormone transport and characterized by profound neurodevelopmental delay and features of chronic peripheral thyrotoxicosis. The ReTRIACt Trial aims to verify the effects of tiratricol observed in previous studies. It is a double-blind, randomized, multicenter, placebo-controlled study to evaluate the effects of tiratricol discontinu...

Background: Metabolic and hemodynamic obesity-related disorders are a major risk factor for cardiovascular disease in children with excess body fat mass. Studies in adults suggest that serum homocysteine is a marker of atherosclerosis and is associated with vascular dysfunction. Studies in children are inconclusive. The aim of the study was to evaluate the association between homocysteine concentrations and lipid and carbohydrate metabolism parameters in obese...

Background: A finding of an enlarged clitoris in a female newborn, raises the suspicion of abnormal sexual differentiation and the possibility of female virilization, most commonly due to CAH. This often leads to an extensive medical evaluation which can be painful, expensive, and stressful for the patient and her family. Medical literature does not provide accurate values of a normal clitoris size. According to the few studies available, the current norm rang...

Background: Emerging evidence suggests the presence of distinct endotypes of type 1 diabetes mellitus (T1DM): T1DE1 in individuals diagnosed at age <7 years in contrast to T1DE2 in those diagnosed at ≥13 years of age. We aimed to comprehensively explore the phenotypic heterogeneity of T1DM with respect to the age-related endotypes.Methods: This cross-sectional study was conducted in China involving 1,204 children n...

Objective: Silver-Russell Syndrome (SRS) is a rare disorder characterized by growth restriction and distinctive phenotypic features. The underlying mechanisms include loss of methylation on chromosome 11p15 and maternal uniparental disomy of chromosome 7. While feeding difficulties and gastrointestinal (GI) symptoms are prevalent during childhood, their manifestation and severity in adulthood remain unclear. This study aim ed to evaluate the presence and sever...

Background: Sex hormones are crucial for the growth and development of children and adolescents. Several studies have indicated the association between lifestyle factors and sex hormones in adulthood. However, few studies have assessed the association of lifestyle factors and sex hormones among children and adolescents. This study aim ed to assess the association between lifestyle factors and sex hormones in children and adolescents.<str...

Background: Congenital Hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in children. Persistent hypoglycemia places patients at risk for adverse clinical outcomes, and current guidelines recommend maintaining plasma glucose >3.9mmol/l. CHI patients often have substantial, residual hypoglycemia and fail to meet treatment goals with currently available standard of care (SOC) therapies. In this study, we aimed to characterize...

Background/Aims: Pediatric obesity remains an ongoing serious international health concern. Whether liver dysfunction is related to thyroid dysfunction in this population is controversial. Compare SGPT, TSH, FT4 and insulin resistance indexes between children with obesity or severe obesity.Methods: 279 children (143 females) with ΒΜΙ (≥95percentile) (CDC BMI curves) were divided in two groups (Group 1, ob...

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder, for which insulin-like growth factor-1 (IGF-1) generation test (IGFGT) is debated as a complementary diagnostic analysis. Diagnostic workup for SPIGFD varies geographically and diagnosis is delayed by the rarity of the condition (<1/10,000). Evaluation of real-world practices of IGFGT could help facilitate diagnosis and test use. Objective: to describe rea...