ESPE Abstracts

Background: Telomere length at birth is a major determinant of telomere length in late adulthood. However, the prenatal setting of telomere length is poorly understood. Individuals born large from non-diabetic mothers are at lower risk for later-life disorders than those born small, a feature of their longer health span being a higher lean mass that provides more muscle strength and that is already present in infancy.Objective, hypotheses & methods: ...

Background: People with Down syndrome (DS) are considered to be atherosclerosis-free. However, obesity predispositions and thyroid gland dysfunction that accompanies this syndrome can influence on the heart ischemic risk. The aim of the study was the evaluation of lipid profile of children with DS and estimation of omega-3 supplementation effect on serum lipid profile.Materials and methods: The group constituted 69 children with DS (41 boys), average age...

Background: People with Down syndrome (DS) are considered to be atherosclerosis-free. However, obesity predispositions and thyroid gland dysfunction that accompanies this syndrome can influence on the heart ischemic risk.Aim: The aim of the study was the evaluation of lipid profile of children with DS and estimation of omega-3 supplementation effect on serum lipid profile.Materials and methods: The group constituted 69 children wit...

Background: Increased fracture risk and decreased bone mineral density (BMD) have been demonstrated by several studies in Turner syndrome (TS). However, longitudinal data on BMD development in childhood and adolescence and a reliable densitometric predictor of fractures in TS are still lacking.Objective and hypotheses: Our aim was to longitudinally assess BMD in paediatric TS patients and test whether trabecular BMD development over six years of observat...

Background: Long-term monitoring of GH treatment in children is very important.Objective and hypotheses: To describe patterns of GH dosing in clinical practice in children with isolated GH deficiency (IGHD) and multiple pituitary hormone deficiency (MPHD).Method: We analysed 7 years of GH treatment data from NordiNet® International Outcome Study (IOS) (NCT00960128), an observational study evaluating the long-term effectiveness...

The skeletal research field develops rapidly and has produced several exciting findings in the last year and includes advances in the treatment of rare skeletal disorders and an ever deeper understanding into the fundamental molecular mechanisms that control skeletal development, metabolism, growth, and mineralization. The targeting of the C-type natriuretic peptide (CNP) pathway and options to directly antagonize the overactivity of the FGFR3 pathway in achondroplasia continu...

Background: Heterozygous loss-of-function mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with advanced bone age, early-onset osteoarthritis and intervertebral disc disease (SSOAOD; OMIM#165800). ACAN mutations is a relatively common finding in idiopathic short stature (ISS) and has been reported to be the cause of growth failure in approximately 2% of children with ISS. However, the underlying cellular and molecular mechanisms by ...

A 4.9-year-old girl presented with a 6-month history of excessive body odour and suspected breast development. Family history was significant for presence of Lynch syndrome in both her father and paternal grandmother. At presentation, she was pre-pubertal but tall for her age. Her height was 124 cm (SDS 3.5), and weight was 27.1 kg (SDS 2.69). Her height velocity was accelerated at 15 cm/year and bone age was advanced at 7 years. Investigations revealed an elevated IGF-1 (500 ...

Introduction: Adolescent polycystic ovary syndrome (PCOS) is characterized by androgen excess and oligo-amenorrhea, and often results from ectopic lipid storage due to a mismatch between early adipogenesis and later lipogenesis. Endogenous HOTAIR and exogenous pioglitazone are enhancers of subcutaneous adipogenesis, particularly in the gluteofemoral region. The A allele of HOTAIR rs1443512 is an equivalent of a natural knock-down and is thus a candidate to inf...

Abstract: The SARS-CoV-2 virus uses ACE2 combined with the transmembrane-protease TMPRSS2 to enter and infect thyroid follicular cells. Studies have reported a higher incidence of hyperthyroidism cases during the COVID-19 pandemic compared to pre-pandemic periods. Studies have also been reported cases of thyroid dysfunction early after mass covid vaccinations. However, there are insufficient data to confirm these associations in children.<p class="abstext"...