ESPE Abstracts

Maturity onset diabetes of the young (MODY) is a group of inherited disorders with a varying degree of severity, caused by variants in one of several genes (most common genes are: HNF1A, CGK, HNF4A, HNF1B), The majority of cases have impaired insulin secretion. Patients tend to present with hyperglycemia prior to age 25 years, but can present later in life. There is usually family history of diabetes. MODY accounts for 1-3% of all cases of diabetes. The GCK gene has been assoc...

Background: The ACTION Teens study aimed to identify attitudes, behaviours and perceptions among adolescents living with obesity (ALwO), caregivers of ALwO (CGs) and healthcare professionals (HCPs) who treat ALwO. This subanalysis assessed the mental well-being and self-esteem of ALwO.Methods: ACTION Teens was a global, cross-sectional study (NCT05013359) that surveyed 5275 ALwO (aged 12–<18 years), 5389 CGs and...

Background: This subanalysis of the ACTION Teens study aimed to explore perceptions of obesity and food/diet among adolescents living with obesity (ALwO) and caregivers of ALwO (CGs) who were unaware of their/their child’s obesity.Methods: The global, cross-sectional ACTION Teens survey study (NCT05013359) assessed perceptions, attitudes and behaviours among 5275 ALwO (aged 12–<18 years), 5389 CGs and 2323...

Background: Obesity rates in children and adolescents have increased dramatically across the globe, and the lifelong impact of obesity is more severe when onset begins at ≤20 years of age. However, the experiences, challenges and needs of adolescents living with obesity (ALwO), their caregivers, and the healthcare providers (HCPs) who treat them are poorly understood. ACTION Teens, the first study of its kind, aims to improve the lives of ALwO by generat...

Background: Congenital central hypothyroidism (CeH) may occur isolated, or in combination with other pituitary hormone deficiencies. Although a third causative gene for CeH was recently reported (IGSF1), the aetiology of isolated CeH has remained unexplained in most cases.Objective and hypotheses: We hypothesized that in three relatives with unexplained isolated CeH a mutation in another gene might be responsible for the phenotype.<p class="...

Background: Hypoglycaemia and poor cardiovascular outcomes are described in children and young people (CYP) with primary adrenal insufficiency (PAI). In this study, we described cortisol exposure during hydrocortisone replacement therapy, glucose regulation by continuous glucose monitoring (CGM) and cardiovascular function. Here, we present the final study data.Methods: CYP with PAI underwent CGM for 7 days using Dexcom ...

Introduction: Salt wasting is a potentially life-threatening condition in the newborn period. Other than 21 OH-CAH other rarer adrenal causes should be considered in the differential diagnosisObjective: To report the laboratory, clinical features, management and genotype of a series of consecutive patients who showed up at our Center for a salt wasting syndrome in the last 32 years, excluding patients with 21 OH CAH....

Systemic Juvenile Idiopathic Arthritis (sJIA) is a chronic autoinflammatory disease, with significant complications that can give short-term and long-term disability with reduced quality of life. Growth delay and short stature are described in >40% of cases, with a complex pathogenesis. Chronic inflammation, long-term corticosteroids treatment, hepatic involvement, malnutrition decrease IGF-1 and GH biological effects. Corticosteroids inhibit growth velocity, bone maturatio...

Background: Heterozygous Aggrecan (Acan) mutations cause autosomal short stature (ISS) with advanced bone age, early-onset osteoarthritis and intervertebral disc disease (OMIM#165800) in humans. Cartilage matrix deficiency mouse (Acancmd) has a naturally occurring 7 bp micro-deletion in aggrecan gene. Heterozygous Acancmd mice develop postnatal dwarfism with progressing age. However, the underlying cellular and molecular mechanisms causin...

Introduction: The Newborn Screening Programme (NBS) enables earlier diagnosis of congenital hypothyroidism (CH). However, cases of central congenital hypothyroidism (CCH) are missed in countries which use thyroid stimulating hormone (TSH) based screening strategy. Understanding the pathogenic aetiology of CCH is particularly important because many patients have additional pituitary hormone deficiencies. New genes have been implicated in CCH, including the rece...