ESPE Abstracts

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 ...

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...

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...

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...

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...

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 ...

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...

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...

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 ...

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), ...