Endocrine Abstracts

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: Spinal Epidural Lipomatosis (SEL) is an excessive fat deposition in the spinal canal which can lead to compression of nervous structures. SEL is a rare but recognised side effect of exogenous steroid excess. There are only six previously reported cases of SEL associated with endogenous steroid excess in the available literature. We present a case of SEL, caused by Cushing’s disease, that presented in the immediate post-operative period.C...

Background: Ages at first date and sexual encounter have been observed to be delayed in women with Turner’s syndrome (TS), with late presentation and delayed puberty induction being the main culprits. There is no equivalent data in women with premature ovarian insufficiency (POI).Objectives: We sought to assess whether age at start of oestrogen replacement therapy (ERT) and amenorrhoea status affected the age at first relationship and sexual experie...

Introduction: Measurement of microRNA (miRNA) in aldosterone-producing adenoma (APA) tissue from primary aldosteronism (PA) patients show levels of the miR24-1 cluster miRNAs (i.e. miRNAs 24-1, 27b and 23b) are significantly reduced relative to normal adrenal tissue. Our previous studies also show that miRNA-24 directly targets CYP11B2 (aldosterone synthase) gene expression. Circulating miRNAs released into the bloodstream may be diagnostic biomarkers or signalling mo...

Background & Aims: ATP binding cassette subfamily G1 (ABCG1) is involved in mediating cholesterol efflux and modulating cellular lipid homeostasis. It is influenced by endogenous glucose and our aim was to examine the relationship between ABCG1 expression and lipid profiles within the increased glucose levels of subjects with Type 2 diabetes (ODM).Methods: RNA was extracted from visceral fat collected from subjects undergoing abdominal surgery (baria...

Approximately 10% of essential hypertension cases is attributed to primary aldosteronism (PA), where inappropriately high levels of aldosterone are secreted. Almost half of these PA cases result from aldosterone-producing adenoma. microRNAs are single-stranded, short non-coding RNAs that negatively regulate gene expression post-transcriptionally. In a previous study, we showed that microRNAs directly modulate CYP11B2 (aldosterone synthase) gene expression and aldoster...

Turner syndrome (TS) affects over 15,000 females in the UK and is defined by the loss of X chromosome material. In the setting of an adult clinic we can observe adverse outcomes and determine their risk factors. For instance women with TS have an excess risk of hypertension, diabetes, fatty liver and osteoporosis. The Turner Syndrome Life Course Project at UCLH has collected data from over 750 women with TS over 20 years. Here we report the influence of weight on these outcome...

Background and aims: Polycystic Ovary syndrome (PCOS) is a common, lifelong condition. Its associated symptoms have been linked with psychological consequences, but less attention has been given to the daily implications of living with the condition. We aimed to explore women’s experiences of living with PCOS, including a specific focus on practical implications and methods of providing support such as structured group-based patient education.Method...

Background: Congenital leptin deficiency (CLD) is characterized by severe early-onset obesity due to hyperphagia and impaired satiety. The impact of obesity in obstructive sleep apnoea hypopnoea syndrome (OSAHS) was originally reported as mechanical, but recent data suggest that adipokines may influence central ventilation. We highlight that treatment with recombinant human leptin (RHL) in CLD with OSAHS improves ventilation before weight loss.Case prese...

Introduction: Diabetes Mellitus (DM) is 2–4 times more common in Turner Syndrome (TS) than karyotype normal females. Diagnosis of DM in TS is usually based on age of presentation and insulin dependency without regard for DM- autoimmunity. Previous research has identified DM associations with the isochromosome and ring chromosome. However, only small numbers of diabetics have been included in reports so far. Here we present preliminary data on DM characterisation in TS.</p...