Endocrine Abstracts

Background: Prior to COVID-19, HbA1C was performed in clinic as a point of care test. As a service development project driven by the changes to our service from COVID-19 we offered either a hospital drive through point of care HbA1C test or the validated VAMS collection method to obtain HbA1C at home.Objective: Research ethics approval was obtained to assess patient/carer acceptability of these collection methods.Methods: Drive thr...

Background: Children and young people (CYP) with Type 1 diabetes are offered 4 face to face appointments annually. During the COVID-19 pandemic these were delivered virtually.Objective: We conducted a survey to assess patient and carer satisfaction with the remote diabetes service. Methods: Research ethics approval was obtained. The survey was distributed to 280 CYP and their families; one response per family was collected. Data on...

Introduction: The first multi-center randomised trial looking at the efficacy and safety of Insulin Aspart, a faster acting insulin which aims to mimic endogenous prandial insulin action, was published in May 2019. We report our experience of using Insulin Aspart in the Norfolk and Norwich University Hospital children’s diabetes clinic.Methods: Children and young people with type 1 diabetes seen the Norfolk and Norwich paediatric diabetes service (t...

Introduction: The Gli-family of zinc-finger transcription factors regulates the Sonic Hedgehog (Shh) signalling pathway, critical for normal CNS development. Gli2 is essential for early pituitary and ventral forebrain development in mice, with mutations described in humans with holoprosencephaly (HPE), isolated hypopituitarism (HP) and cranial/midline facial defects. SHH mutations have been associated with phenotypes including HPE but not HP, despite murine studi...

Background: Prolactin concentration is frequently measured as part pituitary function assessment, however there is little published data regarding result interpretation.Objective: To compare serum prolactin concentrations in children with isolated GH deficiency (IGHD), multiple pituitary hormone deficiency (MPHD) and septo-optic dysplasia (SOD).Methods: Patients were assigned to the appropriate study group based on the results of t...

Background: Compound heterozygous POLE1 mutations have previously been described as a cause of IMAGe syndrome. The severity of the adrenal insufficiency (AI) at initial presentation has been a subject of ongoing debate. Case report: At 22 weeks gestation the proband’s mother was referred to paediatric endocrinology for low oestriol on antenatal quadruple testing. The pregnancy was complicated by severe growth restriction leading to emergency caesare...

Introduction: Exposure to deficient/excess glucocorticoids can lead to long-term health problems in patients with adrenal insufficiency. An age-appropriate low dose hydrocortisone formulation is not available therefore manipulation a 10 mg tablet is required with potential for inaccurate dosing.Aims: To assess the variability in manipulation procedures recommended by healthcare professionals and undertaken by parents/carers. To quantify the dose-variabil...

Introduction: Exposure to deficient/excess glucocorticoids can lead to long-term health problems in patients with adrenal insufficiency. Historically and age-appropriate hydrocortisone formulation has not been available. Adrenal crisis is associated with significant morbidity and mortality.Aims: To assess prescribing practice for oral hydrocortisone and sick day advise across the UK.Methods: Paediatric endocrinologists and parents[...

Background: Holoprosencephaly (HPE) is a brain malformation that results from a defect in the patterning of the forebrain. Children with the most severe forms of HPE have endocrine deficits, in addition to neurologic and visual impairment. Forebrain abnormalities and pituitary hormone deficiencies are also part of the clinical spectrum of septo-optic dysplasia (SOD).Aim: Describe the spectrum of endocrinopathies in children with HPE and compare their cha...

Introduction: A previous case-report described one individual whose significant sleep disturbance in association with septo-optic dysplasia (SOD) was corrected with melatonin administration. Subsequently a trial of melatonin treatment in children with SOD and sleep disruption has become accepted clinical practice in many centres. There are however no published data describing melatonin secretion in these individuals.Methods: We studied six children with ...