hrp0086fc2.4 | Bone & Mineral Metabolism | ESPE2016

In vitro Evidence that Growth Plate Chondrocytes Differentiate into Perichondrial Cells

Spath Stephan-Stanislaw , Andrade Anenisia , Chau Michael , Nilsson Ola

Background: During early bone formation, mesenchymal stem-cells condense and differentiate into collagen type 2-expressing chondrocytes which form the cartilaginous bone anlagen. This anlage becomes enclosed by the perichondrium. The perichondrium consists of two layers, the inner cambium layer containing chondrocyte- and osteo-precursor cells and the outer fibrous layer important for mechanical and structural support. While the regulation of the growth plate is increasingly w...

hrp0098p3-185 | Multisystem Endocrine Disorders | ESPE2024

From endocrine phenotype to hematological diagnosis of Fanconi anemia – apropos of 2 cases

Ramona Nicolescu Corina , Bazus Lucie , Stephan Jean-Louis

Introduction: Fanconi anemia (FA) is a hereditary genomic instability syndrome characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. At the molecular level, FA is caused by pathogenic variants in the FA/BRCA DNA pathway, responsible for DNA repair. FA phenotype include heterogeneous physical abnormalities, with two main associations: VACTERL-H (vertebral abnormalities, anal atresia, <strong...

hrp0086fc3.6 | Pituitary | ESPE2016

Pegvisomant is More Effective in Stunting Growth than Somatostatin Analogs in Childhood Acromegaly/Gigantism

Thomas-Teinturier Cecile , Simonin Gilbert , Vaczlavik Anna , Ajaltouni Zaina , Gaillard Stephan , Bougneres Pierre , Chanson Philippe

Background: We describe our experience in medical therapy for invasive somatotroph pituitary macroadenomas in 8 children or adolescents presenting with acromegaly/gigantism, in terms of growth and IGF-I levels control.Patients: Eight children, aged 5 to 17 years (median 12.4 years), presented with growth hormone (GH) hypersecretion related to somatotroph pituitary macroadenomas with cavernous sinus invasion in 6/8. Genetic testing revealed AIP mutation i...

hrp0084p3-1121 | Pituitary | ESPE2015

Pegvisomant in Child Acromegaly

Anna Vaczlavik , Cecile Teinturier , Stephan Gaillard , Pierre-Francois Bougneres , Philippe Chanson

Background: Acromegaly is a rare childhood disorder. The use of a growth hormone (GH) receptor antagonist, pegvisomant, has shown great results in adults with acromegaly. We describe results of pegvisomant therapy in two girls with invasive GH pituitary macroadenomas.Case presentation: Case 1: A somatotroph pituitary macroadenoma was diagnosed in a 8-year-old girl with progressive tall stature (height: 148 cm, >+3 S.D.; growth velocity...

hrp0097p1-209 | Adrenals and HPA Axis | ESPE2023

Successful transition in Congenital Adrenal Hyperplasia - A single centre experience over 20 years

Kiewert Cordula , Jedanowski Julia , P. Hauffa Berthold , Petersenn Stephan , Führer Dagmar , Unger Nicole

Introduction: Transition medicine aims at the coordinated transfer of young patients with a chronic disease from paediatric to adult specialist care. The present study reflects 20 years of experience in transitioning patients with congenital adrenal hyperplasia (CAH) in a single centre university setting.Methods: The endocrine transition clinic was established in 2002 and offers joint consultations with a paediatric and ...

hrp0097t20 | Section | ESPE2023

Hyperparathyroidism is associated with inferior event free survival in lymphatic childhood malignancies in a single center retrospective analysis

Grasemann Corinna , Höppner Jakob , Tippelt Stephan , Grabow Desiree , Cario Gunnar , Zimmermann Martin , Reinhardt Dirk , M Schündeln Michael

Introduction: Vitamin D status is investigated as a modifier for the risk and course of multiple malignant diseases. Findings point towards a detrimental role of low vitamin D levels for event free and overall survival (EFS/OS). However, vitamin D deficiency is often associated with secondary hyperparathyroidism, which may influence EFS/OS in childhood malignancies.Methods: Real world data from 1547 cases (873 male) of c...

hrp0089p3-p270 | Multisystem Endocrine Disorders P3 | ESPE2018

Case Report: Neonatal McCune–Albright Syndrome with Juvenile Ovarian Granulosa Cell Tumor in a 4 Months Old Girl

Schulz Esther , Klohs Stephan , Konigs Ingo , Maiberger Thomas , Nissen Johanna , Schafer Hansjorg , Saeger Wolfgang , Schnegg Clivia , Mir Thomas , Kozlik-Feldmann Rainer Gerhard , Akkurt Ilker

Introduction: McCune–Albright syndrome (MAS) is a rare disease resulting from a somatic activating mutation of GNAS1 encoding the Gs-alfa subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades leading to the classical trias: polyostotic fibrous dysplasia, café-au-lait hyperpigmentation and GnRh independent precocious puberty. Early manifestation is accompanied with multiple organ involvement and may lead to ACTH-indepe...

hrp0097rfc2.1 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Identification of novel genes including NAV2 associated with isolated tall stature

Weiss Birgit , Ott Tim , Vick Philipp , C. Lui Julian , Vogel Sebastian , Roeth Ralph , Waldmüller Stephan , Hoffmann Sandra , Baron Jeffrey , Wit jan-Maarten , Rappold Gudrun

Background: Very tall people attract a lot of attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear growth.Methods and Results: We studied a three-generation pedigree with several isolated (non-syndromic) tall members by whole exome sequencing; the tallest man had a height of 2...

hrp0089p1-p168 | Growth &amp; Syndromes P1 | ESPE2018

GH Response to GHRH and Arginine in Previously GH-Treated Young Adults with Prader-Willi Syndrome

Donze Stephany , Damen Layla , Hokken-Koelega Anita

Context: Some of the features of subjects with Prader-Willi syndrome (PWS) resemble those seen in subjects with growth hormone deficiency (GHD). Children with PWS are treated with long-term growth hormone (GH), which has substantially changed their phenotype. Currently, young adults with PWS have to stop GH treatment after attainment of adult height when they do not have adult GHD. Limited information is available about the prevalence of adult GHD in patients with PWS.<p c...

hrp0086fc6.3 | Syndromes: Mechanisms and Management | ESPE2016

Oxytocin Improves Social and Food-Related Behavior in Young Children with Prader-Willi Syndrome: A Randomized, Double-Blind, Controlled Crossover Trial

Kuppens Renske , Donze Stephany , Hokken-Koelega Anita

Background: Prader-Willi syndrome (PWS) is known for hyperphagia with impaired satiety and a specific behavioral phenotype with stubbornness, manipulative and controlling behavior and obsessive-compulsive features. PWS is associated with hypothalamic and oxytocinergic dysfunction. In humans without PWS, intranasal oxytocin administration had positive effects on social behavior and weight balance.Objective and hypotheses: To evaluate the effects of intran...