Endocrine Abstracts

Girls with Turner syndrome (TS) are treated with recombinant human growth hormone (rhGH) to improve their adult height but the gain is variable (0–20 cm). Current prediction models can account for only ~46% of the variability in the first year response to rhGH, thus genetic profiling has been suggested as a possible means of improving this prediction. The aim of this study was to explore mRNA expression profiles in an ex-vivo fibroblast model to characterise response to r...

There are very limited data on long-term mortality in pituitary ACTH dependent Cushing’s disease (CD).We report on our data from Stoke-on-Trent, UK, spanning 50 years and provide a meta-analysis of six other reports which addressed mortality of CD. Case records of 60 CD patients from 1958-31 Dec 2009 from Stoke-on-Trent were reviewed. The standardised mortality ratio (SMR) overall and separately for patients in remission and having persistent diseas...

Objective: To define the rates of progression to frank hyperthyroidism and to normal thyroid function for subclinical hyperthyroid patients (SH).Design: Record-linkage technology was used retrospectively to identify patients with SH in the general population from 1st January 1993 to 31st December 2009.Patients: All residents over 18 years old with at least two measurements of TSH below the reference range for at least 4 months from...

Background: Infants born small for gestational age (SGA) usually show catch-up growth during the first few years of post-natal life. However, some infants remain small and little is known about the factors governing their growth failure. GH and IGF1 receptor mutations only account for a minority of cases. We have now initiated an in vitro assessment of signalling molecules downstream of these receptors and evaluation of cell growth characteristics.<p class="abstext"...

Introduction: Post-traumatic hypopituitarism (PTHP) is a recognised sequel of traumatic brain injury (TBI), occurring in 25–69% of adult patients, but there are few data on the prevalence or natural history in childhood. Our aim was to determine pituitary function in children at least 4 years after TBI requiring paediatric intensive care unit (PICU) admission. At the same time body composition was evaluated.Methods: Children discharged from the regi...

Our laboratory works on Wnt/β-catenin signaling in precursor and stem cells of various organs. The data show that Wnt/β-catenin controls cell lineage specification in embryogenesis and organogenesis. General interest sparked anew by recent evidence suggesting that organ as well as cancer stem cells share core signaling and transcriptional modules. We used genetic mouse models to study the necessity of Wnt/β-catenin signaling in stem cells of the salivary gland. ...

Benign prostatic hyperplasia (BPH) is characterized by tissue overgrowth and stromal reorganization primarily due to cellular proliferation and fibroblast-to-myofibroblast transdifferentiation. Given the recently reported beneficial effects of PDE5 inhibitors on lower urinary tract symptoms secondary to BPH this study aimed to investigate the influence of PDE5 inhibition on the prostate at a cellular level. We investigated the expression of PDE5 in the human prostate and demon...

Previous studies have reported increased cardiovascular disease, fractures and renal stones for patients with primary hyperparathyroidism (PHPT). These studies are mainly based on patients referred to specialist centres or unselected PHPT patients. We specifically aimed to assess the risk for patients ‘mild’ PHPT, in whom treatment is usually not recommended. Using the unique patient identifier, which is used for all medical contacts in Tayside, data linkage of recor...

Background: Infants born small for gestational age (SGA) usually show catch up growth within the first few years of life. However in the UK ~1500 SGA children each year remain small, with no clear endocrine cause with rare genetic syndromes accounting for only a minority of cases. In order to define growth factor activation in these children we have initiated an assessment of cell growth and signalling in response to GH and IGF1 in fibroblast cell lines....

A 27 years old girl presented with weight gain, hirsutism, fatigue, bruising and striae. On examination she was Cushingoid. On initial assessment, 3 out of 4 24 h urinary free cortisol collections were elevated. 0800 h serum cortisol was 280 nmol/l after 1mg dexamethasone given at 2300 h. After formal 48 h low and high dose dexamethasone suppression tests cortisols were 164 and 34 nmol/l respectively. Basal 0800 h ACTH was 33 ng/l. Given the clinical features and the discrepan...