ESPE Abstracts

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 ...

Key words: Childhood, Obesity, Periaortic fat thickness, Echocardiography, Cardiovascular risk.Aim: To assess the periaortic fat thickness (PAFT) by echocardiograpy in a cohort of children with simple obesity and to evaluate its relationship to clinical and metabolic cardiovascular risk factors.Methods: Fifty children and adolescents with simple obesity and 25 healthy sex and age m...

Background: We have previously shown radioimmunoassay (RIA) and gas chromatography-tandem mass spectrometry (GC-MS/MS) to be comparable when analyzing estradiol and testosterone concentrations in prepubertal and pubertal children. However, the reliability for steroid hormone determination with RIA in umbilical cord blood is not known. In general, older studies using RIA show higher values of testosterone, than more recent ones using MS/MS.Patients and me...

Background: GH promotes longitudinal growth and bone modeling/remodeling. The bone formation markers intact amino-terminal propeptide of type 1 procollagen (PINP), bone-specific alkaline phosphatase (BALP), and osteocalcin reflect different stages in bone formation, i.e. proliferation with collagen synthesis, matrix maturation, and mineralization.Objective: The purpose was to study the time course of different bone formation markers during GH treatment i...

Background: GH is secreted in a pulsatile manner. The resulting GH peaks are known to be associated with growth, whereas the trough levels between the peaks are thought to be associated with metabolism in different tissues. GH trough levels were identified as a metabolically active signal in rats in the 1980th leading to differences in fat patterning with central obesity. Obese children are known to have low bone mass and bone mass is reduced in short children.<p class="ab...

Background: The importance of vitamin D for skeletal health is well established and many recent reports indicate that vitamin D deficiency is linked to chronic diseases. Vitamin D status is defined by serum 25-hydroxyvitamin D (25(OH)D), and although there is no consensus on optimal levels of 25(OH)D concentrations of 50 nmol/l (20 ng/ml) meet the requirements in 97.5% of the population. In Sweden, sun cannot synthesize vitamin D during the winter, therefore supplementation is...

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disease resulting from loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Understanding of the clinical presentation is largely based on single case reports, which presents challenges for the recognition and diagnosis of HPP.Objective: To better understand disease presentation, we surveyed the literature to characterize clinical features and presentat...

Introduction: Nephrotic syndrome (NS) is one of the most frequent glomerular pathological conditions seen in children. The International Study of Kidney Disease in Childhood (ISKDC) reported that 84.5% of children with idiopathic nephrotic syndrome (INS) had minimal-change nephrotic syndrome (MCNS). Complications of INS may arise as a result of the disease itself or secondary to treatment. The chief complications of NS are infection, followed by thromboembolic events. Other di...

Objectives: Heterozygous mutations in the aggrecan gene (ACAN) are associated with idiopathic short stature, with or without advanced bone age (BA), osteochondritis dissecans (OCD) and early onset of severe osteoarthritis (OA). Variable features also include midface hypoplasia, brachydactyly, short thumbs and intervertebral disc degenerative disease.Methods: We reviewed 173 radiographs in 22 individuals (8F:14M), (three shoulders, 10 hands, 10 w...

Background: Nutritional excess of vitamin A, a precursor for retinoic acid (RA), causes premature epiphyseal fusion, craniosynostosis, as well as light-dependent retinopathy. Similarly, homozygous loss-of-function mutations in one of the major RA-metabolizing enzymes CYP26B1 causes advanced bone age, premature epiphyseal fusion, and craniosynostosis. We studied a patient with markedly accelerated skeletal and dental development, retinal scarring, and autism-spectrum disease.</...