hrp0082p2-d3-310 | Bone (2) | ESPE2014

Outcomes of Vitamin D Analogues and Phosphate Supplements in Patients With Hereditary Hypophosphatemic Rickets , Comparison With Non-Treated Patients

Boros Emese , Rothenbuhler Anya , Heinrichs Claudine , Brachet Cecile , Esterle Laure , Kamenicky Peter , Harvengt Pol , Brailly-Tabard Sylvie , Haidar Hazar , Gaucher Celine , Silve Caroline , Gossiome Charles , Wicart Philippe , Duplan Martin Biosse , Courson Frederic , Chaussain Catherine , Linglart Agnes

Background: Hereditary Hypophosphatemic Rickets (HHR) is caused by persistently elevated FGF23 resulting in renal phosphate wasting and decreased 25 vitamin D hydroxylation. Treatment with vitamin D analogues (VDA) has been added to phosphate supplements in the late seventies.Objective and hypotheses: Our objective was to evaluate the outcomes of VDA and phosphate supplements in adult patients with HHR in comparison with patients who did not receive VDA ...

hrp0082p2-d3-483 | Hypoglycaemia | ESPE2014

Neurodevelopmental Outcomes in Early and Late Presenting Congenital Hyperinsulinism

Mohamed Zainaba , Nicholson Jacqueline , Zamir Imran , Butler Thomas , Rigby Lindsey , Bowden Louise , Murray Philip , Steele Caroline , Rao Padidela Raja Narender , Patel Leena , Cosgrove Karen , Clayton Peter , Dunne Mark , Banerjee Indraneel

Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) usually presents early (E-CHI) in the neonatal period, but late presentation (age >1 month) (L-CHI) also occurs. Adverse neurodevelopment is well recognised in both early and late CHI, but differences between both groups are not known.Objective and hypotheses: We examined a cohort of children with E-CHI and L-CHI to test neurodevelopmental outcomes in mid-childhood.<p class="abstex...

hrp0082p2-d3-494 | Endocrine Oncology | ESPE2014

Three Year Experience of a National Interdisciplinary Initiative to Improve Outcomes for Children with Hypothalamic Pituitary Axis Tumours (HPATs) Using Multi-site Videoconferencing for Decision Making on Behalf of the UK HPAT Interest Group

Perelberg Daniel , Morillon Paul , Ederies Ash , Aquilina Kristan , Dorward Neil , Michalski Anton , Hargrave Darren , Chang Yen-Ching , Bozorgi Nillofar , James Samantha , Korbonits Marta , Drake William , Akker Scott , Mallucci Connor , Pizer Barry , Blair Jo , Kamaly Ian , Clayton Peter , Spoudeas Helen

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

hrp0084fc3.4 | Diabetes | ESPE2015

Wolfram Syndrome: Natural History and Genotype–Phenotype Correlation Based on EURO-WABB Registry Show Gender Differences in Disease Severity

Dias Renuka , Richens Caitlin , Astuti Dewi , Nightingale Peter , Ayme Segolene , Heredia Miguel Lopez de , Nunes Virginia , Maffei Pietro , McCafferty Susan , Młynarski Wojciech , Parkinson Kay , Paquis-Flucklinger Veronique , Rohayem Julia , Sinnott Richard , Tillmann Vallo , Tranebjaerg Lisbeth , Barrett Timothy

Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder, characterised by early-onset diabetes and optic atrophy. It is caused by mutations in WFS1.Objective and hypotheses: This study aimed to comprehensively review the natural history of WS in a large cohort of patients from the EURO-WABB registry.Method: Data from EURO-WABB patients with WS was analysed in conjunction with the Leiden Open Variation Data...

hrp0094p1-25 | Diabetes A | ESPE2021

Longitudinal Auxological Recovery and Reduced Neurodevelopmental Problems in Hyperinsulinaemic Hypoglycaemia

Worth Chris , Hashmi Laila Al , Yau Daphne , Salomon-Estebanez Maria , Perez-Ruiz Diego , Hall Caroline , O’Shea Elaine , Pimlott Helen , Foster Peter , Flanagan Sarah , Cosgrove Karen , Dunne Mark , Banerjee Indraneel ,

Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) is the commonest cause of severe, recurrent hypoglycaemia in childhood. Previous follow up studies have focused on neurodevelopmental status which is noted to be delayed in as many as 48% of cases. There has been less emphasis on other long-term outcomes in patients with CHI. Given the requirement for high volume carbohydrate in most patients, there are concerns regarding the adverse effects on ...

hrp0094p2-122 | Diabetes and insulin | ESPE2021

Parental insulin resistance is associated with unhealthy lifestyle behaviours independently of body mass index in children: The Feel4Diabetes study

Gonzalez-Gil Esther M. , Gimenez-Legarre Natalia , Cardon Greet , Mavrogianni Christina , Kivela Jemina , Iotova Violeta , Tankova Tsvetalina , Imre Rurik , Liatis Stavros , Makrilakis Konstantinos , Schwarz Peter , Timpel Patrick , Dupont Elisabeth , Couck Pedro , Manios Yannis , Moreno Luis ,

Introduction and aim: Parental health is associated with children’s health and lifestyles. Thus, the aim of the present study was to assess lifestyle behaviours of children from parents with insulin resistance (IR) and at risk of type 2 diabetes.Methods: 2117 European parents from six countries included in the Feel4Diabetes-study measured in 2015 and identified as being at risk for diabetes with the FINDRISC questio...

hrp0097fc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A real-world study in Germany and Switzerland regarding renal health in children with X-linked hypophosphatemia

Böckmann Ineke , Leifheit-Nestler Maren , John Ulrike , Metzing Oliver , Rehberg Mirko , Peter Schlingmann Karl , Kemper Markus , Patzer Ludwig , Weitz Marcus , Wühl Elke , Freiberg Clemens , Sparta Giuseppina , Hiort Olaf , Schnabel Dirk , Hoppe Bernd , Haffner Dieter

Purpose: X-linked hypophosphatemia (XLH) is the most common hereditary cause of hypophosphatemic rickets. Elevated circulating levels of fibroblast growth factor 23 (FGF23) caused by mutations in the PHEX gene lead to renal phosphate wasting and rickets. Conventional treatment with phosphate salts and active vitamin D is associated with nephrocalcinosis in XLH patients. Mice on a high phosphate diet develop proximal tubular injury. Detailed analysis on kidney ...

hrp0098fc15.2 | Late Breaking | ESPE2024

Amount and Pattern Of Pulsatile GH Secretion Induced By The Oral Growth Hormone Secretagogue LUM-201 Is Related To Growth And IGF-1 Responses In Moderate Pediatric Growth Hormone Deficiency (PGHD)

Roslan Amirul , Román Rossana , Avila Alejandra , Said Daniela , Baier Ingrid , L. Brincks Erik , Bruchey Aleksandra , C. McKew John , Duke Pitukcheewanont Pisit , L. Johnson Michael , Garner Terence , O. Thorner Michael , E. Clayton Peter , Stevens Adam , Cassorla Fernando

Background: Oral LUM-201 normalizes growth rates in moderate PGHD over 12 months (Phase 2 Trials: OraGrowtH210/OraGrowtH212) [FC-746 ESPE 2024]. In OraGrowtH212, GH profiles, based on 10-minute sampling over 12 hours (8am-8pm), showed significant increases in inter-pulse, pulsatile and total GH secretion in response to 1.6 and 3.2 mg/kg/day doses of LUM-201 over 6 months, with no difference between the doses [FC14.3, ESPE 2023].O...

hrp0098p1-296 | Late Breaking 1 | ESPE2024

Evaluating Setmelanotide Treatment for 12 Months in Pediatric Age Groups With Rare Melanocortin-4 Receptor Pathway–Related Obesity: Efficacy in Weight Reduction and Safety Outcomes

Kühnen Peter , L. T. van den Akker Erica , H. Shoemaker Ashley , Okorie Uzoma , F. Verge Charles , Fennoy Ilene , M. Kelsey Megan , M. Haqq Andrea , L. Roth Christian , C. Garrison Jill , Wabitsch Martin , Farooqi Sadaf , Argente Jesús

Objectives: Hyperphagia and severe obesity may result from impaired melanocortin-4 receptor (MC4R) signaling due to rare biallelic variants in POMC or PCSK1 (proopiomelanocortin [POMC] deficiency) or LEPR (leptin receptor [LEPR] deficiency), Bardet-Biedl syndrome (BBS) or acquired hypothalamic obesity (HO). Previously, setmelanotide in patients aged 2-17 years was well tolerated and improved weight-related measures and hunger severit...

hrp0094p2-19 | Adrenals and HPA Axis | ESPE2021

Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years

Buonocore Federica , Maharaj Avinaash , Qamar Younus , Koehler Katrin , Suntharalingham Jenifer P. , Chan Li F. , Ferraz-de-Souza Bruno , Hughes Claire R. , Lin Lin , Prasad Rathi , Allgrove Jeremy , Andrews Edward T. , Buchanan Charles R. , Cheetham Tim D. , Crowne Elizabeth C. , Davies Justin H. , Gregory John W. , Hindmarsh Peter C. , Hulse Tony , Krone Nils P. , Shah Pratik , Shaikh Mohamad G. , Roberts Catherine , Clayton Peter E. , Dattani Mehul T. , Thomas N. Simon , Huebner Angela , Clark Adrian J. , Metherell Louise A. , Achermann John C. ,

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...