ESPE Abstracts

Background: Maternal bariatric surgery is associated with increased risk of small-for-gestational-age infants. Risk of nutritional deficiencies in neonates of mothers with prior gastric bypass (GBP) is unclear.Methods: This study compared the clinical and cord blood biological characteristics of 56 newborns of GBP mothers and 56 newborns of healthy mothers, in the Obstetrics Department of Angers University Hospital between 01/03/2008 and 31/10/2012. Afte...

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...

Background: Hereditary hypophosphatemic rickets (HHR) is a rare genetic disease characterized by renal phosphate wasting, caused by elevated circulating FGF23. Despite the current available treatment complications include short stature, hyperparathyroidism, pseudofractures, bone pain, bone demineralization and osteoporosis, nephrocalcinosis and enthesopathies. Elevated circulating FGF23 was recently involved in glucose metabolism and cardiovascular function.<p class="abste...

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: Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterised by bone mineralisation defects and osteomalacia, and systemic manifestations, including seizures, respiratory insufficiency, muscle weakness, nephrocalcinosis, and pain. The biochemical hallmark of HPP is low serum alkaline phosphatase activity, resulting from loss-of-function mutations in the gene encoding tissue non-specific alkaline phosphatase. HPP presents a broad spectrum of disease s...

Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue non-specific alkaline phosphatase (TNSALP). In children, HPP has a heterogeneous clinical presentation, frequently with nonspecific musculoskeletal and systemic manifestations, often leading to misdiagnoses and substantial delays in diagnosis. Data from 323 children with confirmed HPP diagnosis (aged <18 years, ALP activity below the reference range and/or ALPL mut...

Aim: to examine the effects of supervised cycling sprint interval training (SIT) on serum osteocalcin, lipocalin-2 and sclerostin levels, and bone mineral characteristics among obese adolescent boys.Methods and subjects: untrained adolescent obese boys (n=14) aged 13.4 &pm; 0.3 were assigned to either a 12-week SIT group (3 sessions/week) or a non-exercising control group (n=14) who continued with their...

Background: Self monitoring of blood glucose (SMBG) is an important part of diabetes management. Continuous glucose monitoring system (CGMS) provides the real time measurements of users’ glucose levels. The NICE guideline recommends use of CGMS if there is persistent hypoglycaemia unawareness or repeated hypoglycaemia or hyperglycaemia. In our paediatric diabetes clinic within a large DGH, we have a cohort of 12 children who were funded for the CGM use for a minimum of 1 ...

Background: Variety of defective thyroid hormone biosynthesis accounts for 15% of congenital hypothyroidism. Children with IYD gene (formerly DEHALI) mutation, which encodes thyroidal enzyme iodotyrosine deiodinase, cannot recycle iodine in thyroid gland. This results in urinary loss of iodine and hypothyroidism. The condition may be missed by neonatal screening programs.Case description: A male baby was born of non-cons...

Background: Hyperinsulinism represents a group of clinically, genetically and morphologically heterogeneous disorders characterised by β-cell dysfunction in glucose homeostasis leading to excessive insulin secretion with profound and recurrent hypoglycaemia. In most countries it occurs in approximately 1/25,000 to 1/50,000 births. Mutations in at least 14 genes have been reported to cause congenital hyperinsulinism. In nearly half of the cases, cause rema...