Endocrine Abstracts

The molecular mechanisms underlying adrenal adenomas have not yet been elucidated. Many groups have sought mutations within the ACTH receptor as well as its downstream signalling pathway, although none have yet been identified. However, mutations in the alpha regulatory subunit of the cAMP dependant Protein Kinase A (PRKAR1A) have recently been described in more than 50% of patients with Carney complex. This syndrome is characterised by nodular adrenocortical hyperplasia as we...

The molecular mechanisms underlying adrenal adenomas have not yet been elucidated. Many groups have sought mutations within the ACTH receptor as well as its downstream signalling pathway, although none have yet been identified. However, mutations in the alpha regulatory subunit of the cAMP dependant Protein Kinase A (PRKAR1A) have recently been described in more than 50% of patients with Carney complex. This syndrome is characterised by nodular adrenocortical hyperplasia as we...

Aims and objectives: Patients with thyroid dysfunction typically require frequent monitoring of thyroid function tests in order to titrate drug treatments and achieve normal thyroid function. A nurse-led thyroid telephone consulting service was established in 2006 to allow monitoring of thyroid function tests without the need for a hospital doctor’s appointment, with the aim of offering increased convenience for patients as well as significant cost savings. This audit aim...

The high dose short Synacthen (corticotropin) test (SST) is widely used to investigate suspected secondary adrenal insufficiency but concern remains about falsely reassuring results with potentially serious clinical consequences.In order to evaluate the long-term safety of the SST, we retrospectively evaluated the clinical outcome in 178 patients who achieved 30-minute cortisol values in the lowest 15th percentile of normal healthy responses. This subgro...

SHOX has been implicated in the regulation of bone growth and modelling. Haploinsufficiency and heterozygous mutations of SHOX are associated with Lerri Weil Dyschondrosteosis (LWD). The cardinal features of LWD are mesomelic limb shortening and Madelung deformity. Histological studies demonstrate premature fusion of the ulna border of the radial epiphysis and disordered osteoblast maturation and orientation. In view of these observations we investigated the role of SHOX in th...

Islet amyloid deposition is a characteristic feature of Type 2 diabetes. Accumulation of IAPP by abnormal intracellular peptide degradation in beta-cell could promote fibril formation. IAPP is present in high concentrations in beta-cell lysosomes. To determine if fibrils form in lysosomes and the pathway for the accumulation human islets were cultured under conditions of elevated production of insulin (11mM glucose) and inhibition of secretion (0.6mM diazoxide) and/or lysosoma...

Thyroid hormone (TH) is essential for fetal development and before 14 weeks maternal supply of TH is critical to the fetus. Subtle abnormalities of maternal thyroid status have been reported to affect neurodevelopment in childhood (1,2). To explore this further, we examined the relationship between maternal thyroid status and newborn measures of growth potential. A cohort of uncomplicated pregnant women (n=480) was recruited. At antenatal booking (mean gestation 13.05 weeks) m...

Objective: To construct rat congenic strains to confirm and narrow down a region on rat chromosome 2 previously implicated in blood pressure regulation. To determine expression profiles and identify differentially expressed genes between congenic strain and respective parental strain using microarray technology.Design and Methods: Total RNA was prepared from whole kidney homogenates from 2x parental SHRSPGla and 2x SP.WKYGla2a congenic rats. Expression ...

Objective. The aims of our study were to utilise a combination of high fidelity phenotyping, microarray gene expression profiling and conserved synteny mapping between rodent and human genomes to identify genetic determinants underlying human hypertension.Methods. We used the stroke-prone spontaneously hypertensive rat (SHRSP) and a congenic strain (SP.WKYGla2c*) produced by introgressing a quantitative trait locus responsible for blood pressure regulation on rat chromosom...