ESPE Abstracts

Patients with Disorders of sex development (DSD) can present with a large phenotypic spectrum and caused by a number of different genetic defects. Therefore, it is difficult to reach a specific diagnosis using traditional approaches including biochemical analysis and single gene sequencing in a number of patients with DSD. Recently, next-generation sequencing technologies have revolutionized the identification of causative genes with diseases with genetic heterogeneity using m...

Backgrounds: Perfluoroalkyl compounds (PFCs) have been suggested as potential thyroid disrupting chemicals. However, previous studies about the associations between PFCs and childhood thyroid function are scarce, and inconclusive. We evaluated the PFC exposure in Korean preschool children, and investigated the temporal relationship with thyroid hormone concentration.Methods: From a prospective the Environment and Develop...

Background: Aluetta® Smartdot™ (Merck Healthcare KGaA, Darmstadt, Germany) is a novel injection device for administering recombinant-human growth hormone (r-hGH), integrated with a smart knob attachment for data transmission that combines ease of use with advanced capabilities. Integration with Growzen™ digital ecosystem empowers healthcare professionals (HCPs) with remote monitoring of patient adherence, thereby promoting optimal cl...

Childhood cancer survivors (CCS), particularly brain cancer survivors, are at risk of developing growth hormone deficiency (GHD) due to hypothalamic-pituitary damage from direct tumor mass effects or treatment. Optimization of testing, long-term treatment, and monitoring during care transition from pediatric to adult endocrinology providers remain challenging. A group of endocrinology experts convened to discuss these challenges, the risks and benefits of GH therapy in CCS wit...

Background: Growth hormone (GH) treatment requires long-term self-management and optimized recombinant-human growth hormone (r-hGH) prescription. Patient support programs (PSPs) are vital in educating, providing personalised support to caregivers and enhancing patient care to achieve optimal growth outcomes. Nurse-led PSP calls using behavior change techniques (BCTs) and motivational interviewing principles have demonstrated a meaningful behavior change across...

GX-H9 is a long-acting form of recombinant human GH under clinical development for both adults and children with GH deficiency (GHD). This study was designed to compare 12-month effects of once-weekly and twice-monthly (every other week; EOW) administration of GX-H9 treatment to that of Genotropin®, in pediatric patients with GHD. A randomized, open-label, active-controlled, parallel study was conducted at 27 endocrinology centers in 10 countries (Europe and Ko...

Introduction: Vitamin D deficiency in children is still a global health problem. Measuring free 25-hydroxyvitamin D concentrations could provide a better estimate of the vitamin D status than total 25-hydroxyvitamin D (25(OH)D) levels.Objective: To assess the relationship between measured free vitamin D (m-f25(OH)D) and calculated free 25(OH)D (c-f25(OH)D), total 25(OH)D, intact parathyroid hormone (iPTH) and other markers of phosphocalcic metabolism. Es...

Background: Down syndrome (DS) is the most common genetic (chromosomal) mental retardation syndrome. In these patients, several environmental and hormonal factors contribute to low bone mineral density (BMD), among these factors, vitamin D may play a significant role in the health of patients with DS. However, poor studies have evaluated 25-hydroxy cholecalciferol (25(OH)D) levels in DS.Objective and hypotheses: The purpose of this study was to assess se...

Background: Simple obese is a worldwide public health problem. Recent studies suggested a possible relationship between obese and vitamin D deficiency.Objective and hypotheses: To discuss the relationship between 25-Hdroxyvitamin D with glucose and lipid metabolism of simple obese in Chinese children.Method: 65 children with obeses (35 mild-to-moderate, 50 severe) and sixty-two children with normal weight were enrolled in this tria...

Background: Few studies have assessed 25-hydroxy vitamin D [25(OH)D] status among Italian children.Objective and hypotheses: To assess 25(OH)D in children and adolescents living in Tuscany, Italy, identifing risk factors for vitamin D deficiency in different age groups.Method: We evaluated 446 children children and adolescents (2.4–17.8 years), from Mugello (latitude 44° N), and we determined 25(OH)D, calcium, alkaline ph...