Endocrine Abstracts

Introduction: The prevalence of clinical obesity in women with polycystic ovarian syndrome (PCOS) is 50%. Weight loss is effective at enhancing insulin sensitivity, reducing hyperandrogenaemia, improving hirsutism and restoring menstrual regularity and fertility in PCOS. However, women with PCOS appear to be less responsive to weight loss interventions including some bariatric surgical procedures. The aim of this study was to compare weight loss outcomes of gastric bypass surg...

Introduction: Klinefelter syndrome may involve multiple organ systems. The CNS, magnetic resonance brain imaging (MRI) findings (white matter changes, reduction in ventricular volume and brain size) are under recognised.We present the case report of a 47-year-old man with schizophrenia who presented with a 4-month history of lethargy, self-neglect and decline in cognitive function. Brain MRI revealed abnormal white matter changes in left frontal and temp...

Hyperthyroidism due to Graves’ disease (GD) is traditionally managed in the secondary care ambulatory setting. Conventionally patients are required to attend for regular review at 4–12 weekly intervals, presenting practical difficulties for many adults. Nurse-led Telephone Consultations are gaining momentum in the care of long-term conditions. This Service Development Project (SDP) addressed whether or not a specialist nurse delivered telephone consultation could be ...

Acute deterioration in Graves Opthalmopathy (GO) has infrequently been described following total thyroidectomy. A 56 year old female smoker presented in January 2010. Thyroid function tests: TSH<0.01, free T4 (fT4) 47. Thyroid receptor antibody (TRAb) was raised at 31 (<1.5). She was commenced on carbimazole treatment. She had no GO at time of diagnosis. She discontinued carbimazole due to rash. She represented in December 2010 with symptoms of thyrotoxicosis. TSH<...

Introduction: Release of GH by the somatotroph cells of the anterior pituitary is stimulated by GHRH. GHRH acts via its transmembrane receptor, GHRHR, a G-protein coupled receptor that stimulates protein kinase A. Recessive mutations in GHRHR are associated with severe isolated GH deficiency (IGHD) with a final height in untreated patients between 130±10 cm (−7.2±1.6 SDS) and 114±0.7 cm (−8.3±0.1 SDS) in males and females respectively.</p...

The incidence of type 1 diabetes in children under 5 years is increasing. The insulin requirements, eating regimens and reaction to invasive procedures make this group a challenging cohort to manage on multiple daily injections. NICE Guidance was amended in 2008 to include the option of using CSII at diagnosis in the under 5’s.Seven CSII starts at diagnosis have been done (from 2009 to current). CSII is initiated within 72 h from initial diagnosis, ...

Introduction: The Gli-family of zinc-finger transcription factors regulates the Sonic Hedgehog (Shh) signalling pathway, critical for normal CNS development. Gli2 is essential for early pituitary and ventral forebrain development in mice, with mutations described in humans with holoprosencephaly (HPE), isolated hypopituitarism (HP) and cranial/midline facial defects. SHH mutations have been associated with phenotypes including HPE but not HP, despite murine studi...

Background: Previous studies have linked a low protein maternal diet with hypertension in adult offspring, and have suggested that impaired kidney development may be an important predisposing factor. This study aims to identify the molecular and structural changes that explain the decline in function.Methods: Pregnant ewes were fed either a control diet providing adequate dietary protein (control protein (CP); n=15), or a low protein diet during e...

GHI is a genetic condition in which patients present with growth failure due to primary IGF1 deficiency caused by a defect in the GH-IGF1 axis. In the last 10 years in the Centre for Endocrinology of WHRI at Barts and the London, 24 causative mutations in genes of the GH–IGF1 axis have been determined in 58 patients (Table 1). STAT5B mutations were responsible in 2 cases, IGFALS in 4 but the majority of defects identified were in GHR. Most mutations identifi...

Background: FGD is an autosomal recessive disorder causing glucocorticoid deficiency. Mutations in the ACTH receptor (MC2R) or the MC2R accessory protein (MRAP) cause FGD types 1 & 2 respectively. All the reported MRAP mutations result in abolition of a functional protein. This is reflected clinically as type 2 patients present early, no patient described to date has presented later than 1.6yrs. In contrast FGD type 1 mutations are usually missense and patients have a medi...