ESPE Abstracts

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

Background: CSII has some potential advantages and disadvantages for young children. For many young patients, it is easier and more convenient to take multiple daily doses of insulin with CSII than with a syringe or insulin pen.Objective and hypotheses: The growing popularity of type 1 diabetes (DM1) treatment based on continuous subcutaneous insulin infusion (CSII) raises a question of the group of patients that benefit most from the treatment.<p cl...

Background: Genomic imprinting causes genes to be expressed or repressed depending on their parental origin. The 1-Mb DLK1-DIO3 imprinted domain is located on human chromosome 14. Gene expression along this cluster is regulated by an intergenic differentially methylated imprinting control region (‘IG-DMR’). In mice, altered gene dosage within this cluster is associated with alterations in embryonic and placental growth.Objective and hy...

Background: Maternal obesity can have long-term consequences for the offspring’s health, including increased risk of type-2 diabetes and cardiovascular disease. The C19MC imprinted locus on chromosome 19q13.4 comprises a cluster of 46 microRNAs, which are usually expressed only in the placenta and from the paternal allele exclusively. Besides its role favouring trophoblast migration, the C19MC locus is deregulated in several human cancers. It is unknown ...

Background: Individuals with the ultra-rare genetic disorder FOP experience progressive heterotopic ossification. Median age at diagnosis is 5 years; patients are supported by multiple specialties. Most patients become immobilised by the third decade of life, requiring lifelong assistance. We characterise AADA use as an indicator of disease severity in younger individuals with FOP enrolled in a 36-month, prospective, global NHS (NCT02322255).<p class="abst...

Introduction: Paediatric Inflammatory Multisystem Syndrome Temporarily associated with SARS-CoV-2 (PIMS-TS) was first reported by our hospital in the UK. Vitamin D3(25(OH)D) has important roles in cardiac function, immunomodulation, and inflammation. It therefore may be an important biomarker for severity in PIMS-TS, however 25(OH)D status and treatment guidance in PIMS-TS are lacking. We report serum 25(OH)D levels on admission and associations wit...

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification. The median age at diagnosis is 5 years and patients are supported by multiple specialties. We describe normal long bone growth changes and incidence of bone abnormalities in participants with FOP aged <18 years in a 3-year, prospective, global NHS (NCT02322255).Methods: Individuals with FOP age...

Background: Thyroid hormones contribute to a wide range of physiological processes and health outcomes. Epigenetic regulation of thyroid development and function has been little explored. PAX8 (Paired Box 8) is a thyroid transcription factor implicated in thyroid gland development and differentiation. PAX8 gene methylation appears to be sensitive to the environment in early pregnancy.Methods and Findings: Using a recall-by-epige...

Background and Aims: Central Precocious Puberty (CPP) caused by the early activation of the hypothalamic-pituitary-gonadal axis is a rare affection that occurs in 0.2% in girls. Clinical signs are suggestive and LHRH-test could be sometimes difficult to use and not always contributive. Gonadotropin assay in twenty-four hours-urinary collection could be an interesting option. The present work intended to evaluate the diagnostic interest of 24-hour urinary gonad...

Here we identified and characterized a heterozygous tandem duplication at the ASIP (agouti-signaling protein) gene locus causing ubiquitous, ectopic ASIP expression in a female index patient with extreme childhood obesity. In patient-derived adipose tissue samples, we observed pronounced differentiation of stroma-vascular fraction (SVF) cells into adipocytes in the patient compared to normal control cells. We further found reduced mitochondrial maximum respir...