ESPE Abstracts

Background: In Romania (latitude 48°15’N to 43°40’N), vitamin D supplementation is a common practice mostly in 0–2 year old infants. No published information is available regarding vitamin D status in Romanian children.Objective and hypotheses: We aimed to evaluate the seasonal and age variation of vitamin D status in a large Romanian pediatric patient population.Method: 1 395 individuals, 0–18years, f...

Background: PAPP-A2 is a metalloproteinase that specifically cleaves IGFBPs 3 and 5. Papp-a2 knock-out (KO) mice show a reduction in body size and skeletal abnormalities.Objective and hypotheses: Our objective is to report two affected families from Spain and USA. The Spanish family presents a homozygous frameshift mutation in exon 3 of the PAPP-A2 gene (c.1927_ 1928insAT, p.D643fs25X) resulting in a premature stop codon, with 2 of 4 si...

Background: Autoimmune diseases (AIDs) have familial aggregation and frequently share a common genetic background, but few studies have evaluated autoimmune clusters in children with AIDs and their families.Objective and hypotheses: To identify clusters of AIDs in children and their first-degree relatives.Method: A cross-sectional study was performed in subjects with an AID of pediatric onset (<18 years) recruited at Pediatric ...

Background: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with early-onset, severe obesity and hyperphagia. Increasing awareness of genetic testing could improve diagnosis of rare genetic causes of obesity and identify patients who might benefit from targeted therapy; however, such testing has been limited. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity A...

Background: Pituitary stalk interruption syndrome (PSIS) is characterized by the absence of the pituitary stalk, pituitary hypoplasia and an ectopic posterior pituitary.Objective: We aimed to retrospectively analyze the clinical, auxological, biochemical, and radiological findings in Spanish patients with PSIS.Patients and results: Of 27 patients, 25% were female and 75% male. Perinatal features, auxological and endocrine study at ...

Introduction: Generation of neutralizing antibodies (Nab) is a complication in enzyme replacement therapies and can lead to loss of treatment efficacy. Asfotase alfa (AA) was recently approved as the first replacement therapy in severe hypophosphatasia (congenital deficiency of alkaline phosphatase [TNSALP]). We report a case of neutralizing antibody mediated loss of efficacy of AA treatment in hypophosphatasia and the successful result of immune tolerance ind...

Background: Dietary carbohydrate restriction in the treatment of obese adolescents could cause a substantial shift in the substrates used as an energy source, inducing changes on body composition and metabolism, but experience in this age range is limited.Objective: We assessed the influence of 6 months of dietary carbohydrate restriction on body composition and lipid and carbohydrate metabolism in obese adolescents.Method: Thirty-...

Background: Impaired glucose tolerance ((IGT), glucose ≥140mg/dl at 120’ in the oral-glucose-tolerance-test (OGTT)) is prevalent in childhood obesity. It is frequently reversed after weight loss, although an eventual role for metformin treatment has been postulated.Objective: To evaluate the benefits of metformin addition to conservative treatment on weight loss and IGT in obese children.Patients and methods: We studied ...

Background: Hypophosphatasia (HPP) is inherited in an autosomal recessive fashion, although symptoms in heterozygous carriers are described. Age at symptom onset determines six clinical forms with different severity and prognosis, but showing phenotypic overlapping.Objective: We aimed to show this genetic and clinical variability by analyzing two cases.Case 1: Male, born at 38+5 weeks with 2250 g (−2.22 SDS) and 45 cm (&#8722...

Osteogenesis imperfecta (OI) is a rare, hereditary bone dysplasia with a broad clinical spectrum that includes skeletal and extra-skeletal manifestations. It is genetically heterogeneous and there are multiple described mutations that explain the clinical variability of this entity and make it difficult to establish a genotype-phenotype correlation.Objectives: To evaluate the clinical and genetic characteristics of the patient with OI.</...