Endocrine Abstracts

Introduction: The Dandy-Walker complex (DW) comprises a rare intracranial malformation of the posterior fossa and multiple organ anomalies. The association with endocrine pathology is rare - described in isolated cases (Kallman syndrome, primary hypothyroidism (PH) and central precocious puberty). Noonan syndrome (NS) is a genetic disease usually diagnosed at birth, with variable phenotype. Most cases have AD transmission, with the PTPN11 gene mutation responsible for 50%....

Brian Walker, UK-. AbstractBrian Walker is Professor of Endocrinology at the University of Edinburgh in Scotland where he is administrative head of a 60-strong multidisciplinary research group in the Centre for Cardiovascular Science.He graduated in medicine in Edinburgh in 1986 and completed his clinical training in Glasgow and Edinburgh. Since 1996 he has practised as an honorary consultant i...

Brian Walker, University of Edinburgh, Edinburgh, United Kingdom. AbstractBrian Walker is Professor of Endocrinology at the University of Edinburgh, where he is administrative head of a 60-strong multidisciplinary research group in the Centre for Cardiovascular Science.He graduated in medicine in Edinburgh in 1986 and completed his clinical training in Glasgow and Edinburgh. Since 1996 he has pra...

Introduction: The placenta interchanges nutrients, oxygen and waste between mother and fetus, acts as a gate-keeper to protect the fetus and creates an optimal endocrine environment to maintain the pregnancy. Placental insufficiency underpins common pregnancy complications (e.g. intrauterine growth restriction, preterm birth). Perturbed expression of molecular transporter proteins in the placental syncytiotrophoblast will affect fetal exposure to harmful drugs/xenobiotics such...

Health care payers (governments or insurance plans) are increasingly challenging new health services, including medicines, to prove their value and several European countries have established agencies to help with this task. The example of NICE in England is one example but the Scottish Medicines Consortium (SMC) offers another.In its first four years the SMC has considered 14 endocrinology products, accepting eleven for use (79%). Manufacturers submit e...

PRL has long been recognized as a hormone that regulates both cell proliferation and differentiation in the mammary gland. Current theory proposes that it is the coexisting steroidal environment which dictates whether PRL is mainly proliferative, as it is during pregnancy, or mainly differentiative, as it is during lactation. While major changes in the steroidal environment may contribute to a shift in response by the mammary gland, other tissues which show both responses to P...

A 73 year old male presented to his optician with reduced vision in his right eye. He was found to have a right sided visual field defect and referred to Opthalmology. An MRI scan was arranged which showed a 29 x 22 x 17mm pituitary fossa mass, elevating and flattening the optic chiasm. He was therefore referred urgently to Endocrinology. He denied any symptoms other than some lethargy, a mild headache and erectile dysfunction. His anterior pituitary function tests are display...

Case history: A 16 month old boy was referred to Community Paediatrics with developmental delay. Bloods taken as part of a developmental delay screen, revealed a raised calcium, with an inappropriately normal parathyroid hormone (PTH) and a normal vitamin D. There was no family history of hypercalcaemia. Blood tests in the boy’s mother and grandmother also showed hypercalcaemia.Investigations: Calcium was raised at 3.46 mmol/l. A urinary calcium cre...

Phosphorylation of the Androgen Receptor (AR), has been shown to play an important role in directly modulating AR activity. However, the full extent of which protein kinases are involved in the regulation of the AR remains unknown. In order to address which kinases are important in the regulation of AR activity in both androgen sensitive and independent prostate cancer (PCa), a comprehensive siRNA kinome screen was performed. AR transcriptional regulation was evaluated using a...

Background: The case is a 64 year old patient referred by the GP who noticed she looked ‘cushingoid’. She gave an approximately 4 year history of a change in facial complexion, central weight gain, unsteadiness and poor wound healing. There was a history of depression, essential hypertension and previous back surgery. On examination she was plethoric, had pedal oedema, thin skin and central obesity (BMI 32).Investigations: Initial overnight dex...