ESPE Abstracts

Background: In non-Caucasian youth residing in low-income settings, risk of mortality and rates of diabetes complications are substantially higher and clinical phenotypes may be distinct.Objectives: To assess the clinical presentation, glycemic control, and chronic complications of diabetes in Haitian youth residing in Haiti.Methods: Retrospective review between 01/2013–03/2018 of youth 0-25 years with diabetes followed at a c...

X-linked hypophosphatemia (XLH) is diagnosed in children with clinical and or radiological signs of rickets, impaired growth velocity, low serum phosphate levels associated with renal phosphate wasting, in the absence of vitamin D or calcium deficiency. Conventional treatment is made of phosphate and active vitamin D. However, nephrocalcinosis has been identified as a complication of this therapy. Its prevalence is about 25-40% in adult XLH treated patients. It was never c...

Background/Aim: 25 to 40% of children with well-controlled X-linked hypophosphatemia (XLH) show linear growth failure, despite optimal conventional treatment (oral phosphate supplementation and active forms of vitamin D) with final height -2 SDS. Recombinant human growth hormone (rhGH) may be an adjuvant treatment of the growth retardation in these patients. Therefore, the main objective of this study was to describe how rhGH treatment improves final heigh...

Classic features of inactivating PTH/PTHrP Signaling Disorder 2 or 3 (iPPSD2, iPPSD3), i.e. former pseudohypoparathyroidism include multi-hormone resistance, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity and a molecular defect at the GNAS region. In addition, patients may present with less-known features including craniosynostosis (CSO).Objective: To describe the prevalence of CSO in a cohort ...

Introduction: About 15% of children born small for gestational age (SGA) do not reach final height within normal range. Recombinant human growth Hormone (rhGH) has shown to be effective in catching up growth velocity and height in children born SGA.The objective of our study is to identify the predictive factors of final height in children born SGA treated with rhGH.Materials and Methods: Monocentric, retrospective s...

Purpose: The aim of this study was to identify risk factors for adult obesity in childhood solid cancer or lymphoma survivors (CCS).Patients and Methods: The study included 3199 patients of the French Childhood Cancer Survivor Study Cohort (FCCS) with 303 obese patients who had returned self-questionnaire. Analyses were adjusted on social deprivation index and sex.Results: CCS bein...

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We previously reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we report final data from this Phase 2 Study CL201 (NCT02163577).Fifty-two children with XLH (5-12 years old, Tanner ≤ 2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) we...

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we present data on 11/52 subjects (all girls) who developed fused growth plates during the phase 2 study CL201 (NCT02163577).In CL201, 52 subjects (Baseline: 5-12 years-old, Tanner ≤ 2) were randomized 1:1 to recei...

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by mutations in PHEX, leading to elevated FGF23 levels, hypophosphatemia and chronic renal phosphate wasting. Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of XLH. Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: ...

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, characterized by chronic hypophosphatemia. XLH children present with progressive skeletal deformities (leg bowing, waddling gait, poor growth and disproportional short stature), dental abscesses, and craniosynostosis. Most affected children have been treated so far with multiple dail...