Endocrine Abstracts

As medical science and technology have advanced health care delivery in diabetes has struggled to provide consistent high quality care. In the United Kingdom the National Service Framework (NSF) for Diabetes and guidelines from the National Institute for Clinical Excellence lay out the direction of care but do not performance manage care to achieve real improvements in health.There remains a shortfall between knowledge acquisition and safe and appropriat...

As medical science and technology have advanced health care delivery particularly in diabetes has struggled to provide consistent high quality care. The document ‘Making every child and young person with diabetes matter’ provides the overarching direction in which health care should move. The challenge now is to execute the task at the regional and local levels. Diabetes is a classic chronic disease that requires continuous monitoring/input, involves different specia...

Background: Glucolipotoxicity contributes to declining B-cell function and acceleration of type 2 diabetes (T2DM). Intensive insulin therapy has been shown to rapidly reverse glucolipotoxicity and improve B-cell function, particularly if given soon after diagnosis. Recent trials in adults have shown promise, with 50% in remission at 1 year after intensive insulin therapy.Methods: We report 4 cases of young people with T2DM treated with intravenous insuli...

Clinical trials of multiple dose insulin (MDI) or pump therapy (CSII) suggest a short term effect with a waning of effect over time – the ‘Hawthorn Effect’. This may relate to interest in the patient during the trial or to lack of reinforcement of the education and training programme. We reviewed our experience in this area where we have used a structured education programme for CSII and MDI over the last 6–8 years and used Quality Control Theory to explore...

Introduction: A number of different parameters are used to assess adequacy of treatment in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hydrocortisone day curves are established practice in our unit. To determine the value of this procedure, outcomes were monitored using the European Society for Paediatric Endocrinology 2002 guidelines for the management of 21-hydroxylase deficiency.Methods: Two hourly cortisol profiles ...

Introduction: Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) is an autosomal recessive disorder characterized by distinct clinical, biochemical, and genetic abnormalities. HRD has almost exclusively been reported in children of Middle Eastern origin where the rate of consanguinity is high. The syndrome is characterized by severe short stature, the aetiology of which is unclear. Mutations in tubulin-specific chaperone E (TBCE), a gene encoding a chaperone requ...

Animal studies suggest that circulating IGF-1 concentrations are influenced by hypoxia. To test whether a similar situation pertains in humans we related cord IGF-1 concentrations to cord pH in the babies of 1650 Caucasian mothers delivering at term. All pregnancies were singleton and antenatal growth and uterine blood flow was assessed at 20 and 32 weeks gestation. Hypoxia was chronic if associated with preeclampsia in non-smokers and acute based on cord pH. Effects of cigare...

In humans Growth Hormone Receptor (GHR) transcripts exist in two isoforms, the full-length (GHRfl) or exon 3 deletion isoform (GHRd3). Individuals with the GHRd3 isoform are associated with an increased response to recombinant human GH. The d3/fl-GHR polymorphism does not influence adult height. However, an association with the d3/fl-GHR polymorphism has been found with antenatal growth especially in small for gestational age (SGA) infants. H...

Background: Premature pubic hair development, with or without manifestations of androgen production, is a common clinical presentation. Premature adrenarche (PA) needs to be differentially diagnosed from congenital adrenal hyperplasia (CAH) and may be associated with early development of puberty.Aim: To study the characteristics at presentation, endocrine profile and outcome of patients who presented with premature pubic hair development. We studied retr...

Introduction: The Autoimmune Polyendocrinopathy Syndromes (APS) comprise 4 clinical subtypes (1–4), APS type 1 is an autosomal recessive disorder caused by mutations in the AIRE (Autoimmune Regulator) gene. It should include at least 2 of the following 3 major criteria: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HPT) and adrenal insufficiency (AI) although 50% of patients develop all 3 features, usually before the age of 20 years. In addition, there are ...