hrp0094fc6.3 | Bone and Mineral Metabolism | ESPE2021

Off-label use of cinacalcet in pediatric primary hyperparathyroidism: a French multi-centre experience

Bernardor Julie , Flammier Sacha , Salles Jean-Pierre , Castanet Mireille , Martinerie Laetitia , Lienhardt-Roussie Anne , Amouroux Cyril , Linglart Agnes , Bacchetta Justine ,

Background: For adult patients who do not meet indications to surgery, the calcimimetic cinacalcet is approved for primary hyperparathyroidism (HPT), decreasing calcium and parathyroid hormone (PTH) levels. This drug is largely used in adults, but may be a challenge in daily practice in children, because of the risk of hypocalcemia, increased QT interval and drug interactions. A few pediatric cases have highlighted its potential interest in children with HPT; ...

hrp0094p1-166 | Growth B | ESPE2021

The BoneXpert adult height prediction method outperforms the Bayley and Pinneau method in tall male adolescents.

De Schepper Jean , Guisez Tanguy , Wijnand Justine , Cools Martine , Herregods Nele , Marieke den Brinker , Gielen Jan , Ernst Caroline , Gies Inge ,

Background and Aim: Adult height predictions by the manual Bayley and Pinneau (BP) method in tall boys have shown large confidence intervals up to a bone age of 15 years. The adult height (AH) BoneXpert prediction method, which is based on an automated bone age reading, has not been evaluated in tall adolescents. We therefore compared the bias between the manual BP method and the BoneXpert (BE) method in tall male Flemish adolescents.Pat...

hrp0089p3-p006 | Adrenals and HPA Axis P3 | ESPE2018

An Adrenal Tumor Ppresenting as a Premature Pubarche in a 7 Year-old Girl

Marie-Neige Campas-Lebecque , Isabelle Souto , Stephanie Proust , Marc-David Leclair , Valentine Suteau , Justine Bailleul , Maryam Azgal , Natacha Bouhours-Nouet , Regis Coutant

Introduction: Premature pubarche is the most frequent diagnosis when children present moderate pubic hair development, but other diagnosis must be ruled out. We report the case of a child with premature pubarche with hormonal results in the physiological range, corresponding to an adrenal tumor.Observation: A girl aged 6.8 years consulted for precocious pubertal development (pubic hair stage 3, breast stage 2), with moderate acne. There was no virilizati...

hrp0095fc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Final heights in 398 patients with X-linked hypophosphatemia (XLH) over the last decades in France, a surrogate marker of improved disease management. Study of a large cohort of XLH patients born between 1950 and 2006.

Berkenou Jugurtha , Boros Emese , Amouroux Cyril , Bacchetta Justine , Briot Karine , Edouard Thomas , Gueorgieva Iva , Girerd Barbara , Kamenicky Peter , Lecoq Anne-Lise , Marquant Emeline , Mignot Brigitte , Porquet Bordes Valérie , Salles Jean-Pierre , Zhukouskaya Volha , Linglart Agnès , Rothenbuhler Anya

Introduction: XLH is caused by mutations in PHEX leading to increased FGF23 levels, phosphate wasting, and impaired endogenous calcitriol synthesis. Affected patients present with rickets and diminished growth velocity during childhood, and osteomalacia and short stature in adulthood. Adult height is linked with health within and across generations suggesting that adult height may be a potential tool for monitoring health conditions, e.g., XLH.<p ...

hrp0094p2-98 | Bone, growth plate and mineral metabolism | ESPE2021

BUR-CL207: An Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Pediatric Patients from Birth to Less than 1 Year of Age with XLH.

Padidela Raja , Cheung Moira , Allgrove Jeremy , Bacchetta Justine , Semler Oliver , Heubner Angela , Schnabel Dirk , Emma Franceso , Nilsson Ola , Hogler Wolfgang , De La Cerda Ojeda Francisco , Quattrocchi Emilia , Linglart Agnes ,

Background: X-linked hypophosphatemia (XLH) is caused by mutations in PHEX which increases serum Fibroblast Growth Factor 23 (FGF23) concentrations leading to phosphate wasting and osteomalacia. Burosumab is a recombinant fully human IgG1 monoclonal antibody which selectively inhibits the activity of FGF23. In clinical trials burosumab demonstrated significant clinical improvements in radiological rickets severity, growth, and biochemistry among XLH c...

hrp0097p2-176 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A patient-centred and multi-stakeholder co-designed, mixed methods, observational, prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphatemia (XLH)

Saraff Vrinda , Arango-Sancho Pedro , Bacchetta Justine , M. Boot Annemieke , P. Burren Christine , Chinoy Amish , Dharmaraj Poonam , David González-Rodríguez Juan , Gueorguieva Iva , Hayes Wesley , Linglart Agnès , Amelia Gómez Llorente Maria , Ríos Héctor , Schnabel Dirk , Harvengt Pol , M.A. Bailey Karen , Glen Fiona , J. Rylands Angela , Williams Angela , Haf Davies Elin

Background: XLH is a rare, genetic, life-long disease caused by PHEX pathogenic variants. It is associated with progressive accumulation of musculoskeletal features and symptoms that evolve across the patient’s lifetime if untreated. Although the disease is well characterised in children and adults, there are limited data describing the health outcomes and experiences of adolescents, particularly at end of skeletal growth (EOSG), a crucial phase during t...

hrp0094p2-435 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Two pedigrees with congenital bilateral anorchia in one sibling and testicular torsion at adolescence in another: a shared genetic predisposition?

Brachet Cécile , Chiniara Lyne , Vliet Guy Van

Background: In bilateral anorchia or vanishing testes syndrome, testicular function is normal during the embryonic period, as shown by the absence of Müllerian remnants and of hypospadias. Although normally differentiated, the penis may be small due to decreased testosterone secretion during the fetal period. In a normally virilised boy with non-palpable testes, with or without micropenis, the diagnosis is established by undetectable plasma anti-Müllerian hormone (AM...

hrp0097p1-410 | Adrenals and HPA Axis | ESPE2023

Patient education for management of sick day episodes in adrenal insufficiency: A systematic review of structured education and online patient resources

Bradford Anna , Mason Avril , Choong Wong Sze

Background: Management of adrenal insufficiency(AI) during sick-day episodes require adjustment of oral glucocorticoid therapy or administration of intramuscular injection to prevent adrenal crisis. Education of families of a young person with AI on management during sick day episode is therefore critical.Aim: To critically appraise patient education of sick-day episode management of adrenal insufficiency by conducting</...

hrp0089p1-p122 | Fat, Metabolism and Obesity P1 | ESPE2018

Determinants of Attrition from a Healthy Lifestyle Intervention: Experience from the CIRCUIT Program

Daniels Prince Kevin , Ybarra Marina , Van Hulst Andrea , Barnett Tracie A , Mathieu Marie-Eve , Drouin Olivier , Kakinami Lisa , Bigras Jean-Luc , Henderson Melanie

Introduction: Pediatric obesity is a global public health problem that is associated with severe cardiometabolic consequences. Weight management interventions focusing on lifestyles have shown some promising results, but attrition rates are often high and reasons for dropout are poorly understood.Objectives: We aimed toestimate the prevalence, and identify the determinants of attrition among pediatric participants in the first year of a 2-year lifestyle ...

hrp0094fc4.1 | Diabetes | ESPE2021

Role of physical activity and sedentary behavior on early markers of cardiovascular disease in Canadian adolescents with and without type 1 diabetes: the CARDEA study

Harnois-Leblanc Soren , McNealis Vanessa , Friedrich Matthias G , Hulst AndraeaVan , Nuyt Anne-Monique , Bigras Jean-Luc , Barnett Tracie A. , Benedetti Andrea , Mathieu Marie-Eve , Drapeau Vicky , Sylvestre Marie-Pierre , Henderson Melanie ,

Background: Type 1 diabetes (T1D) is a risk factor for cardiovascular disease (CVD) and alterations may manifest as early as in adolescence. Increased physical activity and reduced sedentary behavior reduce the risk of CVD development in general adult populations, but knowledge is limited on their associations with early markers of CVD risk in pediatric T1D.Objective: Estimate associations of physical activity and sedent...