Endocrine Abstracts

A 35-year lady with Grave’s disease and brittle asthma presented to the Endocrinology team with symptoms and signs of thyrotoxic crisis. She was not on any anti-thyroid medication as she had previous suffered a severe rash in response to carbimazole, and profound gastrointestinal disturbance with propylthiouracil. It was suggested that she consider radioiodine to control her condition, but as a single parent with young children she was not prepared to undergo the isolatio...

As the sensitivity of a single GH test is poor, current NICE guidelines (2010) state that to make a diagnosis of isolated GH deficiency (IGHD), two stimulation tests need to show subnormal peak GH levels. In our centre we use insulin tolerance (ITT) or glucagon stimulation (GST) as the 1st test, and arginine stimulation (AST) as the 2nd test.The purpose of this study was to identify the proportion of children with discrepant test results; and to establis...

Type 1 pseudohypoaldosteronism (PHA1), defined as resistance to aldosterone, is characterised by salt wasting, hyperkalemia and metabolic acidosis and is associated with high renin and aldosterone levels. The autosomal recessive form is characterised by generalised salt wasting and is due to a defect in the epithelial sodium channel. Whilst there are individual case reports on this condition, there are little published data on long-term outcome including neurodevelopment.<...

Aims: To compare glycaemic control and change in body mass index (BMI) in children and adolescents newly diagnosed with type 1 diabetes (T1D) and started on either twice daily insulin (BD) or multiple daily insulin (MDI).Methods: This study looked retrospectively at all children newly diagnosed with T1D at our hospital from January 2006 to June 2007. There were 44 children and the outcome measures used were change in haemoglobin A1c (HbA1...

Background: The most significant hypotheses regarding biological causes of transsexualism are based on the role of environmental hormonal exposure on neural development.Aim: This study was to analyse the baseline hormonal results in a population of transsexuals attending a single clinic to identify any abnormalities in hormone levels in these individuals.Method: A retrospective cohort study was carried out using data collected from...

Background: Transsexuals in Britain are prescribed hormones as part of Gender Reassignment Treatment. Oestrogen therapy is associated with the development of deep vein thrombosis (DVT) with a 25 fold increased risk, and breast cancer; particularly in the older age group and smokers.Aims: To investigate the risk of developing deep vein thromboses in male to female transsexual patients who are, or have been, on oestrogen therapy, and seeing if this differs...

Expression of the mt1 melatonin receptor has been described in both the pars tuberalis (PT) and pars distalis (PD) of the rat pituitary gland. Expression of mt1 mRNA and iodomelatonin (IMEL) binding sites is high in the neonate PD but rapidly declines over the initial weeks of postnatal life. In contrast, both mt1 mRNA and IMEL binding sites are preserved in the PT through to adulthood, leading to a marked tissue-specific expression profile.To identify ...

Objectives: Many successful European centres provide intensive education as 2 week inpatient admissions for newly diagnosed type 1 diabetes. Prolonged inpatient stay is resource intensive and disrupts the family unit. Our centre aimed to determine the feasibility of delivering an intensive education programme in an ambulatory care setting.Methods: The curriculum, introduced in October 2013, comprised 20 hours face to face education by paediatric diabetes...

Introduction: Rare genetic overgrowth disorders are a group of conditions characterised by height and/or head circumference >2 S.D. above the mean for age and sex, learning disability, congenital anomalies, and in some cases childhood tumours. POD is a national cohort study that includes a next generation sequencing (NGS) panel of overgrowth genes. We present a new model for clinical confirmation of pathogenic variants identified by this research panel. Clin...

Introduction: Wolfram Syndrome (DIDMOAD) is an autosomal recessive disease caused by mutations in WFS1 gene, resulting in childhood onset diabetes mellitus and optic atrophy. There have been limited functional assays for WFS1 genetic variants. We aimed to investigate WFS1 protein expression in patients and relate this to their genotype and phenotype.Methods: Nine patients from a regional paediatric centre consented to skin biopsies. Six patients had comp...