ESPE Abstracts

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 ...

Context: The unified approach for obese children can result in therapeutic failure as obesity is a symptom of several conditions. It was previously suggested that only children with obesity onset beyond age 6 years will develop the metabolic syndrome and T2D. In turn, early childhood obesity carries a few times less risk of adult obesity comparing to that with the onset during juvenility.Aim: We determine the clinical an...

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 ...

Context: The traditional approach to childhood obesity management is lifestyle modification/LSM. Nevertheless, the response rate is variable and difficult to predict.Aim: A systematic search for markers to predict outcomes of simple LSM in pediatric obesity management.Patients/Methods: Out of 240 children with obesity (BMI>97%), recruited to a prospective ‘multi-OMICS’ study granted b...

21-hydroxylase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP21A2 gene. 21OHD causes a wide array of clinical symptoms that result from gluco- and mineralocorticoid deficiency and adrenal androgen excess. In most cases, supra-physiological glucocorticoid doses are necessary which may cause short stature, obesity, hypertension, cardiovascular and metabolic co-morbidity with reduced quality of lif...

Background: Type 1 Diabetes (T1D) is a chronic disease resulting from autoimmune destruction of insulin-secreting pancreatic β cells. Viruses are known to play a role in the pathogenesis of T1D. There is no consistent evidence that SARS-CoV-2 induces T1D in children or adults. Nevertheless, evidence suggests that the SARS-CoV-2 affects β cell function, suggesting a role for the virus in the pathogenesis of the disease. It is thus plausible that the e...

Introduction: Type 1 diabetes (T1D) is one of the common chronic diseases of childhood. T1D management is affected both by physiological and behavioral factors. Some patients and their parents choose to conceal the disease from others. Concealment of disease status is not unique for T1D, and has been shown to adversely affect clinical outcomes, social support and well-being of patients with other chronic conditions. There is limited data on the effects of concealment of T1D in...

Background: OPKO Biologics is developing MOD-4023, a long-acting growth hormone (GH), intended for weekly dosing for the treatment of idiopathic GH deficiency in children. At ESPE2015, we presented pharmacokinetic (PK) and pharmacodynamic (PD, based on IGF-1) models for weekly MOD-4023 administration in children aged 3–11 years. These models confirm that IGF-1 (and IGF-1 SDS) varies during the dosing interval. One critical clinical and research issue is when to optimally ...

Background: OPKO Biologics is developing MOD-4023, a long-acting growth hormone (GH), intended for weekly dosing for the treatment of idiopathic GH deficiency in children. At ESPE2015, we presented pharmacokinetic (PK) and pharmacodynamic (PD, based on IGF-1) models for weekly MOD-4023 administration in children aged 3–11 years. Those models were based on data collected during the ‘PKPD period’ (the second steady state dose of MOD-4023) and monthly values during...

Introduction: We report the first known case of a child with mosaic Turner syndrome (TS) with ring X chromosome abnormality and Kabuki syndrome (KDM6A deletion) presenting with hypoglycaemia secondary to severe GH deficiency. Ring X Turner’s mosaic have the XIST locus, so the chromosome is inactivated, however the KDM6A gene deletion associated with Kabuki syndrome escapes X-inactivation as it is falls below the threshold required to manifest inactivation. This r...