ESPE Abstracts

Growth hormone (GH) stimulates insulin like growth factor I (IGF I) release. IGF-I is the standard biomarker for monitoring GH effects during treatment and to achieve optimal long-term safety, and to a limited extent, monitor efficacy in children with GH deficiency (GHD). The IGF I profile during treatment with a long acting GH (LAGH), such as once weekly somapacitan (Novo Nordisk), differs from the daily GH profile by exhibiting larger peaks and troughs over the dosing interv...

Background: Current reference values for leptin in childhood and adolescence are presented separately for girls and boys, and as a function of age without considering the variability of fat mass. This complicates the interpretation of measured serum leptin concentrations since fat mass is the major determinant of circulating leptin concentrations. To fill this gap, we aimed at pooling existing data (age, BMI, sex, tanner stage (TS), serum leptin concentrations...

Introduction: Turner syndrome (TS) association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess 1/ the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients; 2/ the effectiveness of our transition program.Methods: In this multicenter retrospective descriptive cohort study, we col...

Background: Glibenclamide has proven to be efficient for patients with neonatal diabetes owing to potassium channel mutations. We developed a suspension of glibenclamide (EMA CHMP Authorization February 2018) fitting recommendations of drug administration to allow a precise dosage. We reported it to be practical, efficient and well tolerated after 3 months of use.Objective: To determine long term efficiency and tolerance of a new suspension of glibenclam...

Objectives: Abdominal fat has been strongly linked to increased cardiometabolic risk and impaired glucose regulation in adults. Owing to the lack of detailed body composition phenotyping in most previous child cohort studies, the temporal links between abdominal fat accumulation and impaired glucose regulation have not been well established. In this study, we evaluated the associations of abdominal fat assessed by MRI at early infancy (≤21 days after birth) and at 4.5 ye...

Background: Growth patterns in infancy and early childhood have been linked to risks of obesity and cardiometabolic disorders in adulthood. Body fat partitioning, particularly increased fat accumulation at ectopic sites, has been strongly associated with cardiometabolic disorders. However, the lack of precise body composition measures in prior longitudinal birth-cohort studies has made it difficult to ascertain if early growth patterns could result in consolidation of distinct...

An oral GH secretagogue (GHS), LUM-201, stimulates GHSR-1a receptor to enhance endogenous GH pulsatile release. In moderate iPGHD, pulses of GH are found but at reduced levels, resulting in decreased IGF-1 and poor growth. The impact of LUM-201 on GH profiles during treatment of such children has not been reported.Objective: To characterize GH profiles, defined by deconvolution analysis, based on GH concentration in a time series and its...

Objective: Cluster analysis of urinary steroid metabolome analysis obtained by gas chromatography-mass spectrometry (GC-MS) for treatment monitoring of infants with classic salt-wasting CAH. Methods: We evaluated metabolome analysis of spot urine samples of 60 young children ≤4 years of age (29 females) with classic CAH due to 21-hydroxylase deficiency treated with hydrocortisone and fludrocortisone. Subjects were divide...

Background: PTEN Hamartoma Tumor Syndrome (PHTS) encompasses different syndromic disorders which are associated with autosomal-dominant mutations of the tumor suppressor gene PTEN. Patients are at high risk to develop benign and malignant tumors. Macrocephaly is a diagnostic feature, but there is a paucity of data on prevalence, degree und development during growth. Charts for length, weight and head circumference for this rare disorder do no...

Background: Controlling therapy of infants, especially from neonates onwards, with classic congenital adrenal hyperplasia (CAH) is challenging due to the lack of reference values.Methods: We retrospectively analyzed 158 spot urinary steroid hormone metabolite profiles determined by gas chromatography–mass spectrometry (GC-MS) of 60 infants aged 0–4.2 years with classic 21-hydroxylase deficiency (21-OHD) on hydr...