Endocrine Abstracts

Dexamethasone is frequently used in diagnostic work-up of patients suspected of having Cushing's syndrome. We report the case of a young woman whose cortisol production paradoxically increased following dexamethasone administration. A 27 years old woman presented with intermittent facial rounding (see photos), weight gain (6 kg), hirsuitism, spontaneous bruising, menstrual irregularity. On examination the only feature to suggest Cushing's syndrome was very thin skin on the bac...

Aim: Acromegaly is associated with higher mortality and morbidity, and achieving disease control can be challenging. The aim of this study was to assess the morbidity and mortality associated with active acromegaly compared to patients in whom disease control was achieved.Methods: Retrospective analysis of all patients treated with acromegaly at a university hospital between 1948 and 2014 was performed. Mortality rates and development of new cardiovascul...

Background: The insulin receptor (INSR) is alternatively spliced in a developmental and tissue specific manner into two isoforms, IR-A and IR-B. IR-A excludes exon 11 and is widely expressed whereas IR-B includes exon 11 and is expressed in insulin sensitive tissues. The severe short stature disorder 3-M syndrome is caused by mutations in CUL7, OBSL1 and CCDC8 and we have recently associated these proteins with the major mRNA splicing pathways includ...

Objective: To assess age- and growth-dependent gene expression in children and correlate this with biological pathways.Methods: We conducted a gene expression meta-analysis on datasets from normal children curated from the NCBI Gene Expression Omnibus (GEO). Four datasets were combined to form a group of 87 individuals ranging from 0.2 to 29.3 years of age (average 7.7±6.9yr). Analysis of gene expression data was performed using hierarchical cluster...

We report a 61year old female who presented with severe Cushing's disease 13 years after diagnosed as non-functioning adenoma. First presented in 1992 with visual field defect. MRI showed macroadenoma, suprasellar, and lateral extension. Gonadotrophin and GH were low. At this time there was no clinical suspicion of Cushing's syndrome. Treated with transphenoidal pituitary surgery resulting in improved vision. Immunohistochemistry showed 50% cells positive for ACTH and negative...

Gene arrays are a powerful tool to search for novel targets of drug action and disease-specific patterns of gene expression. GH has pleiotropic actions and thus a wide range of potential gene targets. Using an accessible tissue, namely peripheral blood mononuclear cells (PBMNCs), we have started to explore the use of gene arrays in the context of the in-vivo response to GH treatment.PBMNCs were obtained with consent and ethical permission from 2 prepuber...

Objective: Surgical outcome in acute acromegaly has been studied nationally and internationally with conflicting and variable results. Definition of cure varies from centre to centre.Rrecent studies have shown increased mortality in acromegalic patients with GH level >5mu/l. We studied the out come of transphenoidal surgery by a single surgeon at 6 and 12 moths after surgery to compare the results with other national and international published studies.Patients and methods...

Ghrelin, a novel GH-releasing n-octanoylated peptide, has been identified as an endogenous ligand for the 'orphan' GH secretagogue receptor. When administered iv or icv, Ghrelin causes a greater increase in serum GH concentrations than hexarelin or GHRH. However Ghrelin has a number of other actions: it promotes food intake, raises serum glucose and inhibits insulin secretion, increases ACTH and cortisol secretion and influences cardiac function.In orde...

Introduction. We have reported a family with atypical Laron syndrome with no obvious defect in the growth hormone receptor but with an apparent defect in growth hormone (GH) signaling. We aimed to assess how this signaling defect alters GH-dependent gene expression.Methods. Atypical Laron fibroblasts (Lfib) and normal fibroblasts (Nfib) were exposed to 200ng/ml of recombinant GH for 24 hours. mRNA was extracted and reverse transcribed using...

Background: Abnormal uterine artery Doppler (UtAD) at 23 weeks is considered to be a risk factor for FGR. However, the incidence of being born small for gestational age (SGA) in those with abnormal Doppler is not defined.Aims: 1. To determine the incidence of birthweight<2nd centile (BW<C2nd) in pregnancies at high risk of FGR.2. To determine the effect of specific antenatal FGR risk factors on fetal growth traje...