hrp0095fc3.2 | Early Life and Multisystem Endocrinology | ESPE2022

Results from a Global, Multi-Center, Phase 2b Study (RIZE) in Congenital Hyperinsulinism: Characterization of a High Unmet Treatment Need and Glycemic Response to RZ358

Demirbilek Huseyin , Melikyan Maria , Galcheva Sonya , Dastamani Antonia , Thornton Paul , De Leon Diva , Raskin Julie , Roberts Brian , Hood Davelyn , O'Boyle Erin , Christesen Henrik

Background: Congenital Hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in children. Persistent hypoglycemia places patients at risk for adverse clinical outcomes, and current guidelines recommend maintaining plasma glucose >3.9mmol/l. CHI patients often have substantial, residual hypoglycemia and fail to meet treatment goals with currently available standard of care (SOC) therapies. In this study, we aimed to characterize...

hrp0094fc4.6 | Diabetes | ESPE2021

Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort

McGlacken-Byrne Sinead M. , Mohammad Jasmina Kallefullah , Conlon Niamh , Gubaeva Diliara , Siersbaek Julie , Jorgen Schou Anders , Demibilek Huseyin , Dastamani Antonia , Houghton Jayne , Brusgaard Klaus , Melikyan Maria , Christesen Henrik , Flanagan Sarah E. , Murphy Nuala P. , Shah Pratik ,

Objective: The complex clinical phenotypes arising from HNF4A and HNF1A mutations are similar and include diazoxide-responsive CHI from infancy and maturity-onset diabetes of the young (MODY) from adolescence. We aimed to characterise the clinical and genetic aspects of a cohort of paediatric patients with HNF4A or HNF1A mutations.Methods: Patients from five international centres over ...

hrp0086p1-p113 | Bone & Mineral Metabolism P1 | ESPE2016

Extension of The Bone Health Index to Adults, and Reference Curves of Four Indices of Cortical Bone for Healthy Europeans

Martin David , Thodberg Hans Henrik

Background: The BoneXpert method for automated determination of bone age from hand X-rays has always included a determination of the Bone Health Index (BHI) from the cortical thicknesses in the metacarpals.Objective and hypotheses: The aim was to extend this so-called digital X-ray radiogrammetry method into adults, and present reference curves for BHI and three other indices: the metacarpal index, the Exton-Smith index and the volume-per-area (proportio...

hrp0086p1-p114 | Bone & Mineral Metabolism P1 | ESPE2016

Extension of Automated Bone Age Determination to the End of Puberty

Martin David , Thodberg Hans Henrik

Background: The BoneXpert method for automated determination of bone age (BA) from hand X-rays was introduced in 2009, covering the Greulich-Pyle BA range up to 17 years for boys and 15 years for girls.Objective and hypotheses: To present an extension of the BA range of the automated method up to 19 years for boys and 18 years for girls and to validate it against manual rating.Method: The extension was developed based on images fro...

hrp0092fc2.6 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Validation of a New Version of BoneXpert Bone Age in Children with Congenital Adrenal Hyperplasia (CAH), Precocious Puberty (PP), Growth Hormone Deficiency (GHD), Turner Syndrome (TS), and other Short Stature Diagnoses

Thodberg Hans Henrik , Martin David D

Background: The BoneXpert method for automated determination of bone age from hand X-rays is based on machine learning, so it lends itself naturally to be improved by adding more training data and using better learning algorithms. Currently, version 2 is running in 145 hospitals across Europe, and a new version 3 is rolled out in 2019.Objective and Hypotheses: The aim was to validate version 3 against manual ratings in r...

hrp0086p2-p59 | Adrenal P2 | ESPE2016

Hospitalisation in Children with Adrenal Insufficiency and Hypopituitarism: Is there a Differential Burden Between Boys and Girls and Between Age Groups?

Rushworth R. Louise , Chrisp Georgina , Falhammar Henrik , Torpy David

Background: There is a paucity of information on the utilisation of hospital services by children and adolescents with adrenal insufficiency (AI) and hypopituitarism.Objective and hypotheses: To determine the number of episodes of hospitalisation in children with adrenal insufficiency (AI) and hypopituitarism in Australia, and to analyse trends in these admissions.Method: An analysis of all admissions to Australian hospitals in pat...

hrp0082p1-d2-42 | Bone | ESPE2014

Decreased Bone Density in Boys with Klinefelter Syndrome: Results of a Placebo-Controlled Clinical Trial Using Low-Dose Androgen Treatment for 2 Years

Ross Judith , Thodberg Hans Henrik , Bardsley Martha , Gosek Ania

Background: Klinefelter syndrome (KS) is a male genetic disorder defined by the karyo type 47,XXY. Adult males with KS are at increased risk for osteoporosis, based on androgen deficiency. Androgen replacement is standard in adolescent and adults with KS, but has not been used earlier in childhood. We performed a clinical trial to study the effects of childhood, low-dose androgen replacement on bone density in boys with KS.Objective and hypotheses: To me...

hrp0082p1-d2-159 | Growth (1) | ESPE2014

How Precisely can we Measure Increments of Bone Age and Bone Health Index with an Automated Method in Boys with Klinefelter Syndrome?

Thodberg Hans Henrik , Bardsley Martha , Gosek Ania , Ross Judith L

Background: The assessment of bone age increments is important when monitoring treatment in many conditions in pediatric endocrinology. However, manual rating suffers from significant rater variability. Automated bone age assessment could provide increased precision, and also assess increments of bone health index (BHI) from the same X-rays.Objective and hypotheses: To assess the precision of automated assessment of increments of bone age and BHI.<p ...

hrp0084p2-465 | Growth | ESPE2015

Making Adult Height Prediction Complete: Forecasting the Age of the Growth Spurt and the Height and Velocity Trajectories Until Adulthood

Martin David , Mortensen Sofus , Jenni Oscar , Thodberg Hans Henrik

Background: Adult height prediction (AHP) based on bone age appears as an incomplete procedure – it does not reveal the path from the present to the end-point. Growth charts offer little help in this respect because they average over children with different age of growth spurt (AGS).Objective and hypotheses: To extend AHP by also forecasting AGS and the entire height and velocity trajectories until adulthood and displaying this in a growth chart mad...

hrp0095rfc7.4 | Growth and Syndromes | ESPE2022

Efficacy and safety of bilateral epiphysiodesis in extremely tall adolescents

Aeppli Tim , Benyi Emelie , Wehtje Henrik , Sävendahl Lars

Background: Treatment options in extremely tall adolescents are limited. Bilateral epiphysiodesis has been reported to be a safe and effective method to reduce predicted final height. However, there is still limited data on final height and long-term safety.Objective: The aim was to assess the safety and efficacy of bilateral epiphysiodesis to reduce adult height in adolescent girls and boys with extreme tall stature.</p...