Searchable abstracts of presentations at key conferences in endocrinology

ea0025p150 | Diabetes, metabolism and cardiovascular | SFEBES2011

The prevalence of non alcoholic fatty liver disease in GH deficiency and the effect of GH replacement

Gardner Chris , Irwin Andrew , Joseph Francis , Wong Chris , Adams Val , Daousi Christina , Kemp Graham , Cuthbertson Daniel

Background: Non-alcoholic fatty liver disease (NAFLD) is reported to be more prevalent in patients with GH deficiency (GHD) than in the general population. Case control studies have not however been undertaken. Recognition of NAFLD is important due to its association with cardiovascular disease and chronic liver disease.Aims: To determine i) the prevalence of NAFLD in patients with severe GHD compared to age and BMI-matched controls, and, ii) the effect ...

ea0025p180 | Endocrine tumours and neoplasia | SFEBES2011

Prevalence of functionality in adrenal incidental masses

Cochrane Jennifer , Rao Preethi , Newby Mike , Handley Graham , Narayanan Kilimangalam , Weaver Jolanta , Razvi Salman

Background: Adrenal incidental masses (incidentalomas) are present in up to 10% of patients. The majority of these adrenal masses are clinically inapparent, but may be functionally active in a significant proportion; thus assessment by endocrinologists is essential.We assessed the functionality of adrenal incidentalomas referred to the endocrinology team at the Queen Elizabeth Hospital in Gateshead.Methods: Patients with adrenal in...

ea0025p339 | Thyroid | SFEBES2011

Thyroid hormone receptor alpha is a permissive factor that regulates osteoclastogenesis indirectly

Nicholls Jonathan J , Combs Charlotte E , Williams Graham R , Bassett J H Duncan

Thyrotoxicosis is characterised by increased osteoclast activity. Thyroid hormone receptor alpha (TRα) is the predominant TR-isoform in bone and mice lacking TRα have skeletal hypothyroidism with impaired osteoclastic bone resorption. By contrast, mice lacking TRβ have skeletal hyperthyroidism and increased bone resorption. Thus, we hypothesized that T3 acts via TRα to stimulate osteoclastogenesis. Osteoclasts were differentiated in vitro ...

ea0021oc3.1 | Young Endocrinologists prize session | SFEBES2009

In patients with primary hyperaldosteronism (PA), careful choice of patients for surgery using a combination of adrenal venous sampling (AVS) data and results of CT scanning, results in excellent post-operative blood pressure and serum potassium responses

Graham Una , Mullan Karen , Hunter Steven , Leslie Hiliary , Ellis Peter , Atkinson Brew

It is recommended that all patients with PA who are suitable for surgery should undergo adrenal CT and AVS unless there is a large unilateral adenoma with a completely normal contralateral gland. We reviewed 100 patients diagnosed with PA. AVS was performed in 93. Different lateralisation criteria for AVS were assessed using ROC curve analysis to determine the optimal one for identifying an adenoma. We reviewed the outcomes of adrenalectomy evaluating which pre-operative chara...

ea0021oc4.2 | Bone and parathyroid | SFEBES2009

Intra-cellular availability of T3 in chondrocytes is essential for normal skeletal development and adult bone mass

Bernstein Nicholas , Archanco Marta , Swinhoe Rowan , Lu Yan , Hernandez Rebecca , Bassett Duncan , Williams Graham

The type 3 deiodinase enzyme (D3) inactivates T3 and prevents activation of T4 to protect the fetus from premature exposure to thyroid hormones. Rapidly falling levels of D3 activity and rising levels of T3 at birth initiate the onset of cell differentiation and organ maturation during the post-natal period. Congenital hypothyroidism causes delayed ossification with reduced bone mineral deposition and short stature. We hypothesize that increase...

ea0021oc4.6 | Bone and parathyroid | SFEBES2009

Impaired osteoblast function in mice lacking the T3-responsive calcineurin inhibitor RCAN2

Bassett Duncan , Boyde Alan , Howell Peter , Sun Xiao-Yang , Xu Sai , Murata Yoshiharu , Williams Graham

Similar to thyroid hormones, the calcineurin/NFAT pathway regulates bone mass via its actions in osteoblasts and by indirect effects on osteoclast function. Calcineurin is a calcium- and calmodulin-activated phosphatase that dephosphorylates the transcription factor NFAT enabling its translocation to the nucleus. RCAN2 is an inhibitor of calcineurin that is stimulated by T3 in brain, heart and skeletal muscle although its expression in bone has not been studied. Thu...

ea0021p219 | Endocrine tumours and neoplasia | SFEBES2009

MEN2B patients with a RET A883F mutation have less aggressive MTC than those with the common RET M918T mutation

Worth Gabriella , Palazzo Fausto , Tolley Neil , Robinson Stephen , Cox Jeremy , Williams Graham , Bassett Duncan

MEN2B is the most aggressive form of MEN2. Consequently, the new American Thyroid Association guidelines recommend prophylactic thyroidectomy early in the first year of life. Ninety-seven percentage of MEN2B cases result from a germline methionine to threonine mutation at codon 918 (M918T) of the RET proto-oncogene. In addition, an exceedingly rare alanine to phenylalanine mutation at codon 883 (A883F) has been reported in 4 unrelated adults. In each case metastatic MTC and th...

ea0019p5 | Bone | SFEBES2009

Identification of a kindred from Northern Ireland with familial hypocalciuric hypercalcaemia type 3, which maps to chromosome 19q13.3

Nesbit MA , Hannan FH , Graham U , Hunter S , Morrison PJ , Thakker RV

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder of mineral metabolism that is characterized by lifelong elevation of serum calcium concentrations associated with inappropriately low urinary calcium excretion (calcium clearance:creatinine clearance <0.01). Three separate FHH loci have been identified (FHH1-3). Loss-of-function mutations of the calcium-sensing receptor (CaSR) gene located on 3q21.1, which account for the majority of FHH c...

ea0015s32 | Evolving endocrine targets for C-type natriuretic peptide (CNP) | SFEBES2008

Emerging roles for CNP

Espiner Eric , Prickett Timothy , Barrell Graham , Yandle Timothy , Rumball Christopher , Harding Jane

CNP belongs to a family of peptides best known for their role in blood pressure regulation and cardiac remodeling. However CNP differs from the cardiac hormones (ANP and BNP) in showing more diverse expression and low circulating plasma concentrations. Genetic studies, as well as showing cardioprotective roles for all three hormones, have revealed a critical role for CNP in promoting linear growth in both rodents and humans. Finding that the aminoterminal bio-inactive fragment...

ea0015oc30 | Pituitary, disease | SFEBES2008

Local cortisol generation by human macrophage subsets by 11β-hydroxysteroid dehydrogenase type 1 enzyme and its role in ocular immune privilege

Joganathan Varajini , Al-Hakami Ahmed , Rauz Saaeha , Stewart Paul M , Wallace Graham R , Bujalska Iwona J

The eye is an organ vulnerable to a variety of external and internal stimuli that can abolish its vital function to allow accurate vision of images for survival. Inflammation is the key mediator of immune protection but its consequence leads to the disruption of the visual axis integrity. Due to this precise reason, through adaptation and evolution, the eye has developed mechanisms of immune tolerance and privilege. Glucocorticoids have potent immunosuppressive and anti-inflam...