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...

hrp0094p2-387 | Pituitary, neuroendocrinology and puberty | ESPE2021

Isolated central diabetes insipidus and periventricular nodular heterotopia in a 9-year-old girl

Haufler Florentina , Walleczek Nina-Katharina , Vodopiutz Julia , Haeusler Gabriele , Raimann Adalbert ,

Background: Periventricular nodular heterotopia (PNH) is a brain malformation caused by dysregulation of neuronal migration during cerebral development, resulting in nodular neuronal structures in the ventricular surface. Associated ectopy of the posterior pituitary has been reported in literature and is usually associated with deficiencies of the anterior pituitary. The occasion of an isolated central diabetes insipidus due to absence of the posterior pituita...

hrp0094p1-54 | Bone B | ESPE2021

Decreased bone mineral density in children receiving long-term anticoagulation is associated with pubertal development

Raimann Adalbert , Patsch Janina , Weber Michael , Haufler Florentina , Pees Christiane , Albinni Sulaima , Male Christoph , Haeusler Gabriele , Thom Katharina ,

Background: Children and adolescents with chronic conditions are at increased risk of secondary osteoporosis. In adult patients, long-term anticoagulation (LTA) including Vitamin K antagonist (VKA) treatment is associated with lower bone mineral density and hip fractures. In children and adolsescent, risk factors for impaired skeletal health and the role of LTA on bone metabolism during the vulnerable phase of linear bone growth remain poorly defined.<p cl...

hrp0097p1-121 | Growth and Syndromes | ESPE2023

First year reponse to growth hormone (GH) therapy is related to long term outcome in GH deficiency (GHD) but not in children born small for gestational age (SGA)

Hartmann Gabriele , Ertl Diana-Alexandra , Raimann Adalbert , Haufler Florentina , Gleiss Andreas , Ashraf Soliman , Mai Alqubasi , Tawa Olukade , Hamdy Ali , Mohamed Alturk , Nada Alaaraj , Noor Hamed , Shayma Ahmed

In the history of biosynthetic GH, first prediction models on long term outcome of therapy were based on large multinational cohorts of various growth disorders and have concentrated on GH dose. In this study we analyzed the 1st year and final height (FH) data in a large single center cohort (center of expertise for rare growth disorders) and compared patient outcome and predictions in GHD and SGA. Our aim was to predict treatment outcome using simple previously suggested para...