hrp0089fc10.4 | Late Breaking | ESPE2018

Hypothalamus Sparing Surgery Improves the Outcome of Patients with Severe Initial Hypothalamic Involvement of Childhood Craniopharyngioma: Results of the Prospective Multinational Trial KRANIOPHARYNGEOM 2007

Bogusz Agnieszka , Boekhoff Svenja , Warmuth-Metz Monika , Calaminus Gabriele , Eveslage Maria , Muller Hermann L

Context: Quality of survival (QoS) is frequently impaired in childhood-onset craniopharyngioma (CP) patients due to sequelae caused by the hypothalamic syndrome. The debate, whether primary hypothalamic involvement (HI) has apriori prognostic impact or surgical hypothalamic lesions (HL) determine outcome, is controversial. Accordingly, we analyzed, whether CP patients at high risk for hypothalamic obesity due to primary HI of anterior and posterior hypothalamic structures bene...

hrp0082p1-d3-195 | Pituitary | ESPE2014

Childhood Craniopharyngioma: Changes of Treatment Strategies in Multinational Trials During the Last 12 Years

Hoffmann Anika , Warmuth-Metz Monika , Gebhardt Ursel , Pietsch Torsten , Pohl Fabian , Kortmann Rolf-Dieter , Calaminus Gabriele , Muller Hermann L

Background: Despite high survival rates in childhood craniopharyngioma, prognosis is frequently impaired due to sequelae. Radical surgery was the treatment of choice for several decades. However, even at experienced surgical facilities radical surgery can result in hypothalamic disorders such as severe obesity.Objective and hypotheses: We analyzed, whether treatment strategies for childhood craniopharyngioma patients recruited in German studies (KRANIOPH...

hrp0092p1-398 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Postoperative Quality of Life in Children and Adolescents with Craniopharyngioma – Results of the Prospective Multicenter Trial KRANIOPHARYNGEOM 2007

Eveslage Maria , Calaminus Gabriele , Warmuth-Metz Monika , Kortmann Rolf-Dieter , Pohl Fabian , Timmermann Beate , Schuhmann Martin , Flitsch Jörg , Faldum Andreas , Müller Hermann L.

Background: Craniopharyngioma is an embryonic tumor of low-grade malignancy. Children and adolescents with this diagnosis are analyzed concerning quality of life (QoL) and (progression-free) survival within the project KRANIOPHARYNGEOM 2007.Methods: The prospective, multi-center project consists of a randomized, unblinded substudy with adaptive design and an observational study. The randomized substudy for incompletely r...

hrp0084p2-475 | Growth | ESPE2015

Growth Hormone Deficiency and Pituitary Dysgenesis in a Girl with Microdeletion 2q31.1

Hammer Elke , Busche Andreas , Gillessen-Kaesbach Gabriele

Background: Microdeletions of the chromosomal region 2q31.1 are rare. Growth retardation is reported in the majority of these patients, but information about growth hormone status is not given in the literature. Other typical features in 2q31.1 deletion syndrome are developmental delay, limb abnormalities, short palpebral fissures, heart defects, among others.Objective and hypotheses: A 12 year old girl presented at the age of 7 years with severe growth ...

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...

hrp0086p1-p807 | Syndromes: Mechanisms and Management P1 | ESPE2016

Auxological Features in Patients with Juvenile Idiopathic Arthritis Treated with Biologic Therapy Preliminary Study Data

Marino Achille , Cimaz Rolando , Giani Teresa , Simonini Gabriele , Stagi Stefano

Background: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases associated with an increase of inflammatory cytokines that may to influence child growth. However this is already known, to date auxological data published of JIA patients during biologic treatment are incomplete and very heterogeneous.Objective and hypotheses: To evaluate the auxological features in a selected cohort of patients with JIA treated with biologic drugs....

hrp0082p2-d2-542 | Puberty and Neuroendocrinology (1) | ESPE2014

GH Excess and Pseudoprecocious Puberty in a 8-Year-Old Boy with Mccune–Albright Syndrome

Ertl Diana-Alexandra , Gojo Johannes , Aubrunner Daniela , Haeusler Gabriele

Background: McCune–Albright syndrome (MAS) is defined by skin, bone and glands disorders, due to activating mutations in the GNAS1. Clinical presentation is heterogeneous. Reports about GH excess in MAS patients are scarce.Case report: We present the case of an 8-year-old male, previously diagnosed with mono-ostotic fibrous dysplasia of the skull, referred due to signs of pubertal development since the age of 6. The patient presented only 1...

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 ...

hrp0092p2-187 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

"Transition Readiness in Girls and Young Women with Turner Syndrome – are they Less Ready?" Associations between Transition Readiness and Diagnosis

Culen Caroline , Herle Marion , Froehlich-Reiterer Elke , Bluemel Peter , Wagner Gudrun , Ertl Diana-Alexandra , Haeusler Gabriele

Objective: Young women with Turner syndrome are known to be especially at risk for lost of follow-up. Recent literature indicates that there are disparities regarding transition readiness between different chronic conditions. To assess differences in transition readiness might be crucial for identifying special needs in specific patient cohorts when preparing for transfer to adult care. Our hypothesis was, that young women with Turner syndrome would score lowe...

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:...