ESPE Abstracts

The increase in childhood obesity prevalence led to the establishment of a monographic obesity clinic since 2009 in our Department. To date, over 1600 patients have been visited, focusing on early onset severity and generating a valuable dataset on the characteristics of these patients (“The Madrid cohort”). This has allowed the performance of genomic and genetic studies, which have led to the demonstration of a genetic background, underlying the development of the d...

Objectives: Lower limb deformities are a significant burden for patients with rickets and related disorders. However, there is limited structured data on this important symptom in hypophosphatemic and hypocalcemic conditions. This review aims to present the available data and identify gaps in the literature regarding lower limb deformities in patients with hypophosphatemic rickets (HPR) such as XLH and hypocalcemic types of rickets (HCR).<p class="abstext"...

Objectives: Lower limb deformities are a significant burden for patients with rickets and related disorders. However, there is limited structured data on this important symptom in hypophosphatemic and hypocalcemic conditions. This review aims to present the available data and identify gaps in the literature regarding lower limb deformities in patients with hypophosphatemic rickets (HPR) such as XLH and hypocalcemic types of rickets (HCR).<p class="abstext"...

Background: Physical therapy plays a critical role in the multidisciplinary care of patients with rare bone disorders, such as osteogenesis imperfecta (OI). In Austria, similar to other European regions, the majority of OI patients depend on the availability of extramural (outpatient) therapists for their physical therapy needs. However, access to these therapists can be hindered by several factors, including long waiting times and the lack of coverage under p...

Introduction: Adrenarche is characterized by the activation of androgen precursors which are released from the zona reticularis of the adrenal gland. Dehydroepiandosterone (DHEA) is a weak androgen and its conversion to slightly more potent androgens such as Dehydroepiandosterone- sulfate (DHEA-S) is thought to be responsible for the clinical signs of adrenarche. Premature adrenarche is one of the most common endocrine abnormalities causing concern among perip...

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...

Background: Osteogenesis imperfecta is a rare collagen related hereditary disease leading to recurrent fractures, reduced mobility, muscular weakness and short stature.Objective and hypotheses: It was always discussed if the reduced height is a consequence of the impaired collagen production, a reaction of the body to the brittleness of bones or if the patient might suffer from an additional deficiency of growth hormone (GH).Method...