Endocrine Abstracts

Gonadal dysgenesis (GD) is characterised by maldevelopment of the gonads and is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. The phenotype of PGD is variable and diagnosis is based on clinical and biochemical features, coupled with gonadal histology and genetic findings. “46,XY Gonadal Dysgenesis: diagnosis and long-term outcome” has recently been approved as an I-DSD Registry-based study. The aim is to characterise the ...

Background: The Insulin Tolerance Test (ITT) is the gold standard for assessing pituitary function in adults, but used variably in paediatrics due to concerns of serious adverse events. Our aim was to assess the safety of ITT and identify factors associated with the hypoglycaemic response.Methods: We retrospectively collected the following data from patients who underwent ITT (n=122) under Paediatric Endocrinology from 2019-2021: demography, ant...

Introduction: Hydrocortisone is the main treatment for congenital adrenal hyperplasia (CAH) in children. The optimal biochemical monitoring and replacement regimen of these children continues to be debated. We explored variations in blood spot 17α-hydroxyprogesterone (17-OHP) levels.Methods: Single centre retrospective cross-sectional study of children with 21-hydroxylase deficiency aged <18 years. Patients treated with hydrocortisone who had dr...

Introduction: Continuous subcutaneous insulin infusion (CSII) can improve glycaemic control and quality of life in Type 1 Diabetes patients. It is uncommon for paediatric patients to discontinue CSII and return to multiple daily insulin injections (MDI) often due to concerns regarding worsening metabolic control. However a trial off CSII is a requirement before transition to the adult clinic. We review the outcomes of those who discontinued CSII in our centre (total 248 patien...

Introduction: Recently a serious incident due to failure in rechecking blood glucose (BG) after hypoglycaemia treatment was reported in an adult inpatient. We evaluated adherence to network guidance on hypoglycaemia management in inpatients and changes in practice following an intervention based on education and system changes.Methods: In an audit (audit-1), hypoglycaemia episodes (BG level <4 mmol/l) were identified in paediatric inpatients (age &#6...

Introduction: The benefits of growth hormone (rGH) replacement during the transition from childhood to adulthood are well established. In adulthood rGH dose is optimized by titrating to serum IGF-I concentration. The use of non-specific IGF-I reference ranges may result in erroneous assessment of IGF-I concentration and inappropriate rGH dosing.Methods: IGF-I methods and reference ranges across 9 UK centres were reviewed. Immulite IGF-1 results for a 12 ...

Background: A substantially reduced fluid replacement regimen was introduced in the New’ BSPED (2015) compared to ‘Old’ BSPED (2009) guideline for DKA management in children. However, effects of varying fluid replacement regimens are limited and we explored this by comparing outcomes of the two guidelines on the resolution of DKA.Methods: In a retrospective audit of consecutively admitted patients (age <18 years) to t...

Introduction: The management of type 1 diabetes (T1D) in young children can be extremely challenging due to high insulin sensitivity, unpredictable eating and activity and difficulty recognizing symptoms of hypoglycaemia. Continuous subcutaneous insulin infusion (CSII) therapy is beneficial in managing young children, however the small insulin doses required challenge the accuracy of standard concentration (100 IU/ml) CSII.Case report and literature revi...

Background: GH therapy during the transition period is important for somatic maturation. Identification of factors associated with low IGF-I levels may be useful in optimising GH replacement therapy.Objectives: To explore the prevalence and determinants of insufficient GH replacement during transitionMethods: Childhood-onset GH deficient (CO-GHD) patients (n=65) who stopped therapy, and were started on adult GH dose during t...

Introduction: KAL1 is essential for GnRH neuronal migration and olfactory bulb development, and mutations within this gene have been implicated in 5% of Kallmann syndrome (KS) cases, a disorder characterized by the association of hypogonadotrophic hypogonadism with anosmia. It is the only identified X-linked form of the disorder and as a result only KS males had been screened for mutations until recently, when females exhibiting KS phenotypes were screened and subsequen...