hrp0084p3-649 | Bone | ESPE2015

Continuous 1–34 rhPTH Therapy in a Girl with a PTH-Gene Defect

Ertl Diana-Alexandra , Raimann Adalbert , Haeusler Gabriele

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...

hrp0095rfc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Single-center analysis of quality of life in patients with X-linked hypophosphatemia (XLH)

Raimann Adalbert , Haufler Florentina , Ertl Diana-Alexandra , Haeusler Gabriele

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...

hrp0094yb1.5 | Year of Paediatric Endocrinology 1 | ESPE2021

Bone, Growth Plate and Mineral Metabolism

Baroncelli Marta , Raimann Adalbert , Padidela Raja , Nilsson Ola ,

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...

hrp0097rfc2.6 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Short term side effects of first bisphosphonate infusion in children with different underlying bone pathologies.

Cheung Moira , Raimann Adalbert , Semler Oliver , Högler Wolfgang

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...

hrp0097p1-23 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Accelerated linear growth in children with selective tyrosine kinase inhibitior treatment: Hints to a growth factor and sex steroid independent growth promotion mechanism

Raimann Adalbert , Stepien Natalia , Gojo Johannes , Hartmann Gabriele

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...

hrp0095p1-534 | Multisystem Endocrine Disorders | ESPE2022

Successful treatment of neonatal Cushing in a paediatric patient with McCune Albright Syndrome (MAS) by using metyrapone suppositories

Ertl Diana-Alexandra , Ratzinger-Stoeger Gerda , Anzengruber Maria , Skoll Katharina , Raimann Adalbert , Gabor Franz , Haeusler Gabriele

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...

hrp0092fc6.2 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Zone Wise Cell Separation Methods Comparison, Based on Relative Expression of Specific Growth Plate Markers in a Pig Model

Javanmardi Alireza , Raimann Adalbert , Egerbacher Monika , Sagmeister Susane , Gleiss Andreas , Haeusler Gabriele

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 ...

hrp0089fc11.2 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Elevated Phosphate Levels Inhibit Skeletal Muscle Cell Differentiation In vitro

Raimann Adalbert , Egerbacher Monika , Greber-Platzer Susanne , Dangl Alexander , Pietschmann Peter , Haeusler Gabriele

Background: Hyperphosphatemic conditions such as chronic kidney disease are associated with muscle wasting and impaired life quality. While muscle regeneration relies on myogenic progenitor recruitment, the effects of high phosphate loads on this process has not been investigated in detail. This study aims to clarify the direct effectsof hyperphosphatemic conditions on skeletal myoblast differentiation in an murine cell model system.Material and methods:...

hrp0086p1-p144 | Bone & Mineral Metabolism P1 | ESPE2016

Effects of Phylloquinone and Magnesium on ATDC5 Prechondrocytes

Raimann Adalbert , Javanmardi Alireza , Sagmeister Susanne , Ertl Diana-Alexandra , Claudia Hochsmann , Monika Egerbacher , Gabriele Haeusler

Background: Cell-mediated initiation of enchondral ossification is essential for growth plate maturation. The matrix mineralization inhibitors matrix Gla protein (MGP) and osteocalcin (OC) represent key regulators of matrix mineralization and are highly expressed in growth plate chondrocytes. Pharmacological or nutritional phylloquinone (K1) depletion is known to affect skeletal mineralization by reduced gamma-carboxilisation of MGP and OC. Constituents of mineral matrix such ...

hrp0086p2-p852 | Syndromes: Mechanisms and Management P2 | ESPE2016

Assessment of the Medical and Psychological Status of Women with Turner-Syndrome in Young Adulthood

Ertl Diana-Alexandra , Culen Caroline , Schubert Katharina , Raimann Adalbert , Haeusler Gabriele

Background: Difficulties in transition of adolescent Turner Syndrome (TS) patients to adult health care has been reported in many studies.Objective and hypotheses: We conducted a medical and psychological follow-up of adult patients with Turner Syndrome which had been treated at our tertiary pediatric endocrine centre.Method: We screened for expected comorbidities and provided a questionnaire asking for current medical care. Furthe...