Endocrine Abstracts

Background: Glucocorticoids are frequently used to treat childhood inflammatory disorders, and may cause increased fracture predisposition with reduced bone mineral density (BMD), particularly from trabecular bone loss. The contribution of the underlying inflammatory disease processes to these outcomes is poorly understood. Childhood nephrotic syndrome (NS) is a useful model to investigate the effects of steroids on bone, as recurrent courses are often required, but systemic i...

Introduction: Polycystic ovary syndrome (PCOS) has a prevalence of 10–15% and is associated with metabolic and mental health consequences. There is evidence that structured education programmes improve illness perception, quality of life and the metabolic profile in other chronic conditions however evidence for structured patient education in PCOS is lacking.We aimed to use an iterative cycle of research to develop a pragmatic educational interventi...

Methodology: Polycystic ovary syndrome (PCOS) has a variety of signs and symptoms compromising different phenotypic presentations. Insulin resistance is a known association of PCOS. Despite the documented effect of ethnicity on insulin resistance, there is little known about the effect of ethnicity on the clinical presentations of PCOS. We compared the clinical presentations of white and South Asian (SA) women with PCOS.Methodology: Retrospective analysi...

The CYP11B1 and CYP11B2 genes encode the enzymes responsible, respectively, for the terminal stages of cortisol and aldosterone biosynthesis, and have been implicated in the development of essential hypertension. Previously, we investigated the role of microRNAs in the regulation of these genes and showed in vitro that levels of the adrenally-expressed microRNA-24 (miR-24) inversely correlate with those of CYP11B1 and CYP11B2 mRNA, ...

The final reaction for cortisol production in the adrenal gland is catalysed by the 11β-hydroxylase enzyme, encoded by the CYP11B1 gene. Variants in this gene have been associated with alterations in cortisol levels, which increase blood pressure. This gene is traditionally thought to consist of 9 exons. However, recent evidence has predicted the existence of at least one alternatively spliced form.The presence of novel CYP11B1 mRN...

Background: Unrecognised type I diabetes (TIDM) can have serious consequences which may be avoidable with early diagnosis. Many children have delayed diagnosis, however contributing factors are unclear.Aims: To evaluate the patient pathway before diagnosis and initial hospital management of children with TIDM.Methods: Over a 3-month period, parents of children newly diagnosed with TIDM across the UK completed a questionnaire. Addit...

Introduction: Women with PCOS share the underlying pathology of insulin resistance with diabetes, metabolic syndrome and have increased prevalence of obesity. Despite these well established risk factors data on long term cardiovascular outcomes are limited and conflicting.Methodology: Retrospective analysis of a multi-ethnic database of all women with PCOS attending one UK endocrine unit between 1988 and 2009. Cardiovascular (CV) events were identified b...

Introduction: Most (89%) UK units offer some form of free patient choice for new paediatric patients commencing GH therapy. Initial data indicates that patient choice improves adherence, resulting in improved growth (height velocity) short-term.Objective: To compare outcome measures between patients offered free choice and/or hospital supply (including home services and adherence tracking assessed using ampoule counting) with GH therapy with those who di...

Global encephalopathy is a rare complication of Hashimoto’s thyroiditis. It typically presents with seizures, ataxia and tremors and responds to steroid therapy. Limbic encephalitis (LE) is even less well described in paediatric population. It presents with medio-temporal lobe symptoms (memory impairment, temporal lobe seizures and disturbances of affect) caused by inflammation within the hippocampus, amygdala, hypothalamus, insular and cingulate cortex. LE most commonly ...

Essential hypertension is known to have a large genetic component. Variation in the CYP11B2 gene, which encodes the aldosterone synthase enzyme, is associated with excess aldosterone production and hypertension but the causative mechanism remains elusive. miRNAs are a class of post-transcriptional regulatory molecules, implicated in cardiovascular disease, development and tumourogenesis. They act by targeting the 3′ untranslated region (UTR) of mRNAs, inhibiting t...