ESPE Abstracts

Objective: The Triac Trial I was a multicentre, open-label, single-arm, Phase II study of tiratricol (triac) in the treatment of monocarboxylate transporter 8 (MCT8) deficiency. The study demonstrated the beneficial effect of tiratricol in alleviating peripheral thyrotoxicosis. A subset of patients entered the study whilst having a feeding tube. Here, we investigate the impact of the presence of a feeding tube on tiratricol dosing and reaching the serum total ...

Background: A 3-year-old boy appeared healthy at birth and did not experience any fractures until 12 months of age. Blue sclera, frequent fractures without adequate trauma, nearly normal stature, the absence of dentinogenesis imperfecta, no bony deformity, and no limitation of mobility were characteristics suggestive of OI type I that were observed in the patient. The patient’s mother had blue sclera and a history of frequent fracture episodes until the age of 15 years.</...

Aim: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Materials and methods: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years; 95% CI: 13.3...

Introduction: Complications are frequently reported post hypospadias repair and there is a need to understand the factors that influence their occurrence.Aim: The aim of this study was to identify the occurrence of complications in boys with hypospadias that are in the I-DSD Registry.Methods: Data from boys born with hypospadias between 2010-2020 were obtained from the I-DSD regist...

Background: TransCon Growth Hormone is a once-weekly sustained-release prodrug of recombinant human growth hormone (hGH, somatropin). Based on the inert TransCon prodrug technology unmodified hGH is released with a Cmax and AUC comparable to daily therapy. TransCon hGH leverages the known pharmacology of daily hGH and is being developed for the treatment of growth hormone deficiency (GHD).Objective and hypotheses: Both hGH levels and resulting IGF-I leve...

Introduction: Although the majority of Growth Hormone insensitivity syndrome (GHIS) cases are classical, the spectrum of clinical phenotypes has expanded to include ‘atypical’ GHIS subjects with milder phenotypes due to very rare heterozygous GHR mutations with dominant negative effects.Case description: A 13 year old pubertal boy was presented with short stature (−1.7SD) and delayed bone age (11 6/12). Final adult height was &#8...

Background: Non-alcoholic fatty liver disease (NAFLD) represents one of the most common obesity complications and can progress to non-alcoholic stetohepatitis (NASH). NASH is associated with lower insulin like growth factor I (IGF-1) and IGFBP-3, however no data are available regarding the growth hormone (GH)-IGF-I axis in early stage of NAFLD, characterised by hepatic steatosis.Objective and hypotheses: We aimed to investigate the GH-IGF-1 pathway in a ...

Background: In 2019, the International CAH Registry (I-CAH) performed a benchmarking exercise of acute adrenal insufficiency related adverse events including adrenal crises (AC) and sick day episodes (SDE).Methods: In 2022, I-CAH data on children aged <18 years at first visit with 21-hydroxylase deficiency CAH from 35 centres in 19 countries were analysed to examine the current occurrence of SDE and AC and compare it ...

GHD diagnosis in neonates and infants is a challenge owing to the fact that GH pharmacological stimulation tests (GHST) are not approved at this age. In a retrospective study, we found that a random GH<6.5 µg/L confirmed GHD diagnosis in neonates with clinical suspicion of GHD with high diagnostic accuracy (1). The accuracy of GH and its surrogates of action have not been set for infants with current standardized immunoassays.Objective</...

Background: Intensive insulin treatment allows a good metabolic control and prevents long-term complications. Basal-bolus regimen is the best treatment for children with type 1 diabetes T1D but requires several insulin injections a day. The needle-fear and discomfort felt by the child and parents/caregivers for insulin administration is one of the main obstacle to good compliance.Objective and hypotheses: To compare glycemic control and satisfaction with...