ESPE Abstracts

Background: Accurate diagnosis of disorders such as X-linked hypophosphatemia (XLH, OMIM 307800) and hypophosphatasia (HPP, OMIM 241510) critically depends on the use of appropriate pediatric reference ranges for serum phosphate and total alkaline phosphatase (ALP) values. However, many medical laboratories fail to implement these pediatric reference ranges, leading to missed diagnoses and delayed treatment. In Austria, as in many other countries, there are no...

Case presentation: We recently started a 9-year-old girl with hypoparathyroidism due to a mutation in the PTH gene on a pump therapy with 1–34 rhPTH. She has received calcitriol and calcium since the age of 4 months. Bilateral nephrocalcinosis stage II/III was diagnosed at a young age. So far, her renal function remains normal. During the last 18 months symptomatic hypocalcemic episodes have become more frequent despite increased calcium and calcitriol doses. Continuous r...

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: X-linked hypophosphatemia (XLH) is a rare metabolic bone disease which is caused by inactivating mutations in Phosphate-regulating neutral endopeptidase, X-linked (PHEX). Due to dysregulation of Fibroblast growth factor 23 (FGF-23), increased systemic levels of FGF-23 lead to chronic renal phosphate wasting and to impaired activation of 25OH-Vitamin D (25OHD). As a result, patients suffer from multiple musculoskeletal symptoms such as long bone def...

The skeletal research field develops rapidly and has produced several exciting findings in the last year and includes advances in the treatment of rare skeletal disorders and an ever deeper understanding into the fundamental molecular mechanisms that control skeletal development, metabolism, growth, and mineralization. The targeting of the C-type natriuretic peptide (CNP) pathway and options to directly antagonize the overactivity of the FGFR3 pathway in achondroplasia continu...

Background: Bisphosphonates act to increase bone mass by inhibition of osteoclastic bone resorption and reduction of bone turnover. Since the successful use of bisphosphonates in children with osteogenesis imperfecta, a broad range of pediatric indications with variable underlying pathomechanism emerged. While the use of bisphosphonates appears to be safe in children, data on risk factors for acute-phase reaction are sparse. A systematic characterization of si...

Background: Postnatal linear growth is characterized by a steady decline of growth velocity in healthy individuals, with the exception of sex-steroid induced pubertal growth. Pharmacologic interventions in growth disorders are limited to systemic application of growth factors such as growth hormone, and CNP analogues in conditions with FGFR3 overactivation. Tyrosine kinase receptor inhibitors (TKI) represent a heterogenous group of drugs, mostly used for oncol...

We present the case of a now 20 months old female patient, in whom we diagnosed MAS on the basis of pseudoprecocious puberty and hypercorticism at the age of 10 months. Medical history and photodocumentation suggested that symptoms of hypercorticism were present soon after birth. At age 4 months thelarche had occurred, followed by vaginal bleeding at age 5 months. At first presentation at our outpatient clinic, the girl was severely short (-5 SDS), with only minimally advanced...

Introduction: Longitudinal skeletal growth is achieved by enchondral ossification in epiphyseal growth plates (GP) of long bones and vertebrae. These highly organized cartilaginous tissues contain chondrocytes of all differentiational stages classified in three distinct zones named resting, proliferative and hypertrophic. Separated analysis of individual zones is essential in basic GP research thus efficiency of different zonal separation methods confers high ...