ESPE Abstracts

Introduction: The aim of this study was to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype with targeted next-generation sequence (NGS)analysis.Method: Patients with a clinical diagnosis of OI were included in the study. Initially, mutations in COL1A1 and COL1A2 genes which are known to be most responsible for OI were investigated. In the second step, a targeted...

Objective: This project aims to evaluate the effect of two isotopically labelled internal standards on the quantification of 17OHP by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and gas chromatography-tandem mass spectrometry (GC-MS/MS) as an orthogonal technique.Methods: Three LC-MS/MS and one GC-MS/MS laboratories, spanning four countries worldwide, who routinely measure serum17OHP, compared two internal ...

Objective: This project aims to evaluate the effect of two isotopically labelled internal standards on the quantification of 17OHP by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and gas chromatography-tandem mass spectrometry (GC-MS/MS) as an orthogonal technique.Methods: Three LC-MS/MS and one GC-MS/MS laboratories, spanning four countries worldwide, who routinely measure serum17OHP, compared two internal ...

Background: Childhood obesity is a major health concern. Exposure to environmental chemicals may play a role in childhood obesity.Objective and hypotheses: We investigated whether urinary phthalate metabolite concentrations was associated with overweight or obese status in 4-year-old children.Method: Forty-hundred thirteen children born as term, appropriate-for-gestational-age infants (226 males) were included in this study. BMI wa...

Background: We evaluated 12 months follow-up of thyroid function in patients who underwent hematopoietic stem cell transplantation (HSCT) during childhood and adolescents.Methods: We studied 83 hematologic-malignancy patients (46 boys and 37 girls, acute lymphoblastic leukemia=25, acute myeloid leukemia=51, chronic myelogenous leukemia=7) who underwent HSCT between January 2006 and December 2011.The mean age at HSCT was 9.78±4...

Background: Microalbuminuria is usually the earliest sign of diabetic nephropathy. However, it does not always progress to macroalbuminuria,and may regress to normoalbuminuria. Mean HbA1c and HbA1c variability was known to be independent risk factors for microalbuminuria in children with type 1 diabetes.Objective and hypotheses: We hypothesised that both mean and variability of HbA1c could affect the progression to macroalbuminuria in children with type ...

Introduction: Prohormone convertases are a family of proteins that mediate the processing and activation of peptide hormones and neuropeptide precursors. Homozygous mutations of the PCSK1 gene result in prohormone convertase 1 deficiency that is characterized by diarrhea, hypoglycemia, multiple pituitary hormone deficiency beginning from neonatal period and obesity beginning after infancy.Case: A 35-day-old boy was referred to our hospit...

Background: Hypothalamic obesity (HO), due to midline congenital malformations, genetic diseases or hypothalamo-hypophysis tumours, is severe and difficult to treat. Patients are scarcely compliant to diet and physical activity, for disabilities often affecting them. Drugs have been rarely employed.Objective and hypotheses: Aim of the study was to treat hypopituitaric children and adolescents affected by severe HO with a multidisciplinary approach includ...

Introduction: Childhood craniopharyngioma (cCP) has excellent survival, but quality of life may be severely hampered by hypothalamic dysfunction. We aimed to evaluate treatment and hypothalamic outcomes of a Dutch cCP cohort, and evaluate the effect of centralization of care.Methods: A retrospective cohort study was performed, including cCP patients diagnosed between 2004-2021. Treatment characteristics and hypothalamic ...

Despite significant advances in the medical management of childhood diseases, glucocorticoids (GCs) continue to be the mainstay of therapy for numerous serious conditions, including hematological malignancies, Duchenne muscular dystrophy (DMD) and inflammatory disorders. In order to understand the natural history of bone development in GC-treated children, a pan-Canadian longitudinal observational research study called "STOPP" (STeroid...