ESPE Abstracts

Achondroplasia (ACH) is the most common form of dwarfism, occurring in 1: 20,000 births. ACH is caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that interfere with endochondral ossification. Clinically significant morbidities are frequent in ACH; however, there are currently no approved therapies that target the underlying pathobiology. C-type natriuretic peptide (CNP) is an attractive target as it has the potential to inhi...

Background: Children conceived after assisted reproductive technology (ART) with frozen embryo transfer (FET) are more often born large-for-gestational age (LGA) while children born after fresh embryo transfer (fresh-ET) are at risk of being small-for-gestational age (SGA). LGA or SGA children are at increased risk of obesity, diabetes and cardiovascular disease later in life. The long-term cardio-metabolic health of children born after ART is scarcely explore...

Background: Noonan Syndrome (NS) can overlap clinically and biochemically with growth hormone insensitivity [GHI; short stature (SS), low IGF-I and normal/elevated GH levels]. Mutations in multiple genes regulating RAS/MAPK pathway have been identified in NS including LZTR1 variants. Function of LZTR1 is poorly understood and its role in growth retardation is unknown.Objectives: To functionally characte...

Background: Hypoglycaemia and poor cardiovascular outcomes are described in children and young people (CYP) with primary adrenal insufficiency (PAI). In this study, we described cortisol exposure during hydrocortisone replacement therapy, glucose regulation by continuous glucose monitoring (CGM) and cardiovascular function. Here, we present the final study data.Methods: CYP with PAI underwent CGM for 7 days using Dexcom ...

Background: GH treatment has been used for the last 30 years for children with short stature with varying individual responses.Objective: Analysis of final height SDS (standard deviation score) and the factors influencing it in children treated with growth hormone.Material and methods: Subjects across Wales who received GH treatment, part supervised by tertiary center staff and reached final height while on treatment, were identifi...

Background: During treatment of adrenal insufficiency (AI) with hydrocortisone (HC), cortisol concentrations are supra-physiological following doses, and low before doses. We speculated that this cortisol profile may result in periods of hyperglycaemia and hypoglycaemia. We describe glucose profiles in the first 18 children recruited to a study of metabolic and cardiovascular profiles in AI. Methods: Children with primar...

Background: Increased risk of cardiovascular disease and increased subclinical atherosclerosis have been reported in children with primary adrenal insufficiency (AI), including those with congenital adrenal hyperplasia (CAH), when compared to healthy children. Carotid intima media thickness (CIMT) can be used as an early marker of cardiovascular risk. The severity of adverse metabolic profile has been related to the total hydrocortisone dose and duration of tr...

Introduction: Obesity is a recognised risk factor for raised intracranial pressure in the adult population but is still under-recognised in children and young people. The pathophysiology of raised intracranial pressure in relation to obesity remains unclear. The aim of our study is to investigate the association between idiopathic intracranial hypertension (IIH) and obesity in children and young people.Method: Patients d...

Introduction: Impaired glucose tolerance and type 2 diabetes mellitus are known complications associated with childhood obesity. At present, an oral glucose tolerance test (OGTT) is the gold standard investigation. Continuous glucose monitors (CGM) are used in children and young people (CYP) with type 1 diabetes mellitus. The aim of our study is to investigate whether the use of a CGM is more effective in identifying glycaemic dysregulation, compared to an OGT...

Background: Hyperinsulinism represents a group of clinically, genetically and morphologically heterogeneous disorders characterised by β-cell dysfunction in glucose homeostasis leading to excessive insulin secretion with profound and recurrent hypoglycaemia. In most countries it occurs in approximately 1/25,000 to 1/50,000 births. Mutations in at least 14 genes have been reported to cause congenital hyperinsulinism. In nearly half of the cases, cause rema...