hrp0095fc1.3 | Thyroid | ESPE2022

Meta-analysis of DNA methylation datasets identifies aberrant DNA methylation of thyroid function and development genes in Down syndrome

Lauffer Peter , Zwaveling-Soonawala Nitash , Li Shaobo , Bacalini Maria , Naumova Oxana , Wiemels Joseph , Boelen Anita , Henneman Peter , de Smith Adam , van Trotsenburg Paul

Down syndrome (DS) is characterized by a higher incidence of congenital hypothyroidism (CH) and a high prevalence of subclinical hypothyroidism (SH) early in life. Children and adults with DS have an increased risk of developing autoimmune thyroid disease, however CH and early SH cannot be explained by thyroid autoimmunity. The etiology of CH and early SH in DS remains to be elucidated. Considering the recently discovered genome-wide transcriptional and epigenetic alterations ...

hrp0095fc1.4 | Thyroid | ESPE2022

Children at cardio-metabolic risk raise their circulating concentrations of TSH and free T3

Carreras-Badosa Gemma , Mas-Parés Berta , Gómez-Vilarrubla Ariadna , Puerto-Carranza Elsa , Martinez-Calcerrada Jose-María , Riera-Pérez Elena , de Zegher Francis , Ibañez Lourdes , Bassols Judit , López-Bermejo Abel

Introduction: Thyroid hormones regulate body composition and metabolism, and are among the key drivers of body growth and maturation. In children, associations of cardio-metabolic measures with the circulating prohormone thyroxine (T4) have been extensively studied, but not with active triiodothyronine (T3). In apparently healthy children, we studied whether circulating free T3 (fT3) [and its ratio with free T4 (fT3/fT4)] associates with cardio-metabolic measu...

hrp0095fc1.5 | Thyroid | ESPE2022

Subclinical Hypothyroidism and Incident Depression in Adolescents and Young Adults: Results from a Nationwide Representative Prospective Study

Hirtz Raphael , Hölling Heike , Grasemann Corinna

Background: While the relationship between subclinical hypothyroidism and major depressive disorder (MDD) has been studied in adults in cross-sectional and prospective population-based studies, this has not yet been done in adolescents. However, since thyroid function and MDD risk are subjected to maturational processes and ramifications of illness duration over the life span, these findings may not readily transfer to adolescents.<stron...

hrp0095fc1.6 | Thyroid | ESPE2022

Thyroid complications after haemopoietic stem cell transplantation in children and adolescents

Fotiadou Anatoli , Vlachopapadopoulou Elpis-Athina , Paisiou Anna , Goussetis Eugenios , Kafetzi Maria , Karagianni Vilelmini , Peristeri Ioulia , Michalacos Stefanos

Background: Haemopoietic stem cell transplantation (HSCT) has become the treatment of choice for many inherited and acquired pediatric disorders. Cure is not without consequences, and HSCT survivors are at risk of early mortality and developing endocrine complications. Thyroid is highly susceptible to damage from the conditioning therapy for HSCT. The aim of this study is to evaluate the percentage and risk factors of thyroid dysfunction and risk factors of it...

hrp0095fc2.1 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Derivation of local reference intervals for serum phosphate to improve diagnosis of Hypophosphataemic rickets

Thomas Maria , Anand Binu , Park Soo-Mi , Cheung Moira , Thankamony Ajay , Oddy Sue

Background: Hypophosphataemic rickets is a rare, and challenging condition to diagnose as the biochemical and radiological features are subtle compared with the more common calcipaenic rickets. Retrospective review of 4yr-old girl with PHEX mutation initially managed as Blount’s disease with surgery showed low (0.93 mmol/l), but within reference interval phosphate levels at initial presentation which caused some diagnostic uncertainty. Paediatric phospha...

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 ...

hrp0095fc2.3 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

First interim analysis of the International X-Linked Hypophosphataemia (XLH) Registry: Baseline characteristics of children treated with conventional therapy and burosumab

Boot Annemieke , Liu Jonathan , Williams Angela , Wood Sue

Objectives: X-linked hypophosphataemia (XLH) is a rare, hereditary phosphate-wasting disorder characterised by excessive activity of fibroblast growth factor 23. The International XLH Registry (NCT03193476) (initiated in August 2017, target 1,200 children and adults with XLH, running for 10 years) will provide information on the natural history of XLH and impact of treatment on patient outcomes. This report summarises baseline data from the first interim analy...

hrp0095fc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Patient-reported outcomes from a randomized open-label phase 3 trial comparing burosumab vs conventional therapy in children with X-linked hypophosphatemia: results from the 24-week treatment extension period

Padidela Raja , Whyte Michael P , Glorieux Francis H , Munns Craig F , Ward Leanne M , Nilsson Ola , Portale Anthony A , Simmons Jill H , Namba Noriyuki , Cheong Hae Il , Pitukcheewanont Pisit , Sochett Etienne , Högler Wolfgang , Muroya Koji , Tanaka Hiroyuki , Gottesman Gary S , Biggin Andrew , Perwad Farzana , Williams Angela , Nixon Annabel , Sun Wei , Chen Angel , Skrinar Alison , Imel Erik A

In a randomized open-label phase 3 trial in 62 children (1–12 years) with X-linked hypophosphatemia (XLH) (NCT 02915705), switching from conventional therapy (oral phosphate plus active vitamin D) to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved serum phosphate concentration, rickets, lower-extremity deformities, growth, mobility, and patient-reported outcomes (PROs) at 64 weeks. Children in Europe, USA, Canada, and Australia wh...

hrp0095fc2.5 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Effects of burosumab treatment on mineral homeostasis in children and adolescents with X-linked hypophosphatemia: lessons from the German XLH Registry

Ewert Annika , Rehberg Mirko , Hiort Olaf , Binder Gerhard , Schröder Carmen , Jorch Norbert , Richter-Unruh Annette , Freiberg Clemens , Peter Schlingmann Karl , Haffner Dieter , Schnabel Dirk

Introduction: Burosumab was approved for treatment of pediatric patients with X-linked hypophosphatemia (XLH). However, data on its efficacy in adolescents (age > 12 years) and in real-world settings are lacking.Material and methods: Here we assess the effects of 12 months burosumab treatment on mineral homeostasis in 77 pediatric XLH patients (50 children, 27 adolescents) enrolled in the German XLH Registry. Age and ...

hrp0095fc2.6 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Pseudohypoparathyroidism Type 1A (PHP1A): Growth patterns under growth hormone therapy for short stature

Ertl Diana-Alexandra , Mantovani Giovanna , Perez de Nanclares Guiomar , Gleiss Andreas , Hanna Patrick , Marta Elli Francesca , Pereda Arrate , Rothenbuhler Anya , Audrain Christelle , Berkenou Jugurtha , Linglart Agnes

Background: Pseudohypoparathyroidism 1A, newly classified as inactivating PTH/PTHrP signaling disorder type 2 (iPPSD2), is defined by resistance to parathyroid hormone, short stature and early-onset obesity. Short stature is caused by skeletal dysplasia and additionally, in some cases, also by the coexistence of growth hormone deficiency, as other hormonal resistances might be present (e.g. thyroid-stimulating hormone, growth hormone releasing hormone (GHRH), ...