ESPE Abstracts

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...

Background: Androgen insensitivity syndrome (AIS), ranging from complete (CAIS) to partial (PAIS) and to mild (MAIS) forms of androgen resistance, is caused by mutations in the X-linked AR gene that encodes the androgen receptor. Some cases, however, remain without a molecular genetic diagnosis that would confirm the diagnosis especially in cases that have phenotypic similarities with other 46,XY disorders of sex development.Objective and hypoth...

X-linked hypophosphatemia (XLH, MIM 307800) is a rare hereditary disorder of bone metabolism characterized by growth impairment, leading to bone deformities and short stature and beside others to muscle function deficits. XLH is caused by defect of endopeptidase PHEX leading to high levels of FGF-23 and thereby renal phosphate wasting. While conventional treatment includes substitution of phosphate and 1-25 OH-Vitamin D, now a treatment with a FGF-23 antibody (burosumab) is av...

Objective: Osteogenesis imperfecta is an inherited disorder characterised by bone fragility. Antiresorptive treatment with bisphosphonates is a well-established first line medical treatment in OI types III/IV. Nevertheless, there is no consensus on treatment modalities, like which bisphosphonate to use in which dose and when to initiate treatment. The objective of this work was to evaluate the therapeutic effect of a one-year treatment period with bisphosphona...

Background: We describe the incidence, etiologies and clinical features of combined pituitary hormone deficiency (CPHD) in pediatric patients from a single tertiary center.Methods: The cohort comprised of patients with CPHD, treated in the Helsinki University Hospital between 1985 and 2018. They were identified through an ICD-9/ICD-10 code search, and the clinical data were recorded from the patient charts.<p class="...