ESPE Abstracts

Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...

Background: It is long been known that thyroid hormone (TH) is essential for brain development; however most evidence is based almost on rodent models. Since the advent of advanced neuroimaging techniques, it is now possible to study the manifestations of TH role in developing human brain.Objective and hypotheses: To examine findings from structural and functional MRI investigations of maternal hypothyroidism and congenital hypothyroidism (CH), which rep...

Background: Despite early detection and treatment, children with Congenital Hypothyroidism show subtle persisting deficits in various cognitive abilities. Degree and type of deficit reflect CH severity at time of diagnosis. We reported (Rovet et al., ATA, 2012) children with CH had abnormal cortical morphology, consistent with animal evidence showing early thyroid hormone (TH) insufficiency affects cortical development. It is not known, however, whether these cortical...

Background: Small for gestational age (SGA) without subsequent catch up growth is an indication for GH treatment in Europe, the US, and Korea but not in Australia. However, many SGA are likely to be included under the ‘short stature and slow growth’ (SSSG) indication. It is unknown to what extent children born SGA are included in the Australian indications or how they differ from non-SGA patients within each indication and gender.Objective and ...

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: Multiple Endocrine Neoplasia type 1 (MEN1) is a dominantly inherited syndrome characterised by parathyroid hyperplasia, pancreatic neuroendocrine tumours (PNET) and pituitary adenomas, although >20 tumours are described. Clinical guidelines1 recommend annual biochemical surveillance and abdominal imaging from <10yrs and pituitary imaging every 3yrs. Age at start of surveillance is derived from the youngest reported patient with a...

Introduction: Turner’s syndrome (TS) is caused by an abnormality of one of the X chromosomes. Short stature or slow growth is one of the first manifestations of TS and it is recommended that GH therapy should be initiated as soon as it becomes apparent that affected girls are not growing normally to optimise final adult height. Idiopathic intracranial hypertension (IIH) is a well-known side effect of GH therapy, and it has also been reported in girls with TS with or witho...

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...

Synacthen tests are used widely in paediatric practice for diagnosis of AI. The standard dose test may be more specific and low dose test (LDSST), more sensitive. The LDSST requires dilution of commercially available Synacthen, which may result in unreliable dosing and over diagnosis of AI.Aim: To determine the prevalence of AI requiring treatment with hydrocortisone (a) daily (peak cortisol <350nmol/l) (b) on sick days only (peak co...

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...