ESPE Abstracts

Aim: to study sleep quality, using accelerometry in children and adolescents with abdominal obesity after a multidisciplinary intervention.Patients, Material and Methods: we included 122 children and adolescents, range age: 7 to 16 years old, diagnosed with abdominal obesity (waist circumference > p90) who participated in an 8-week intervention program to lose weight, with a 2-year follow-up period. Participants were...

Aim: to assess and follow-up neck circumference and its relationship with a metabolic score in patients with abdominal obesity after a lifestyle intervention.Patients, Material and Methods: 122 children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a control randomized intervention study (NCT031472). Abdominal obesity was diagnosed using the waist circumference. The intervention included an...

The new techniques of molecular genetics are revolutionizing our clinical practice. This causes benefits in the diagnosis and prediction of diseases in patients, but also raises new ethical concerns that must be addressed. One of them is the susceptibility to cancer due to genetic risk. Children can be especially vulnerable in this area, as they do not freely decide the way forward. Regarding thyroid cancer, it is important to know which genetic syndromes are susceptible to ca...

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 ...

Background: Body mass index not allow to discriminate the proportional composition of the different body compartments: fat mass and fat-free massObjective: The aim of this study is to elaborate standardized values of the fat mass index (FMI) and fat-free mass index (FFMI) in healthy adolescents (both sexes) using anthropometric techniques in order to be available as reference standards in daily clinical practice.<p c...

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.</...