Searchable abstracts of presentations at key conferences in endocrinology

ea0014p182 | (1) | ECE2007

The role of BMP-3B in the establishment of zona glomerulosa in the adrenal gland

Bakmanidis Artem , King Peter

The adrenal gland is composed of the medulla and the cortex, which is further subdivided into three zones: zona glomerulosa (zG), zona fasciculata (zF) and zona reticularis (zR). The zones of the cortex are functionally characterised by their ability to synthesise different steroids and consequently they express different steroidogenic enzymes. These and other markers of the zones have been described but so far no good candidate for a determining factor of zonal establishment ...

ea0034p314 | Pituitary | SFEBES2014

Analysis of the AIP gene promoter

Radian Serban , King Peter , Korbonits Marta

Background: Germline mutations of the AIP tumour suppressor gene are associated with familial and sporadic pituitary adenomas, yet the tumorigenic mechanisms remain unclear. In addition, AIP protein expression in somatotroph adenomas from patients without AIP mutations correlates with clinical behaviour and somatostatin analogues responsiveness. Understanding the regulation of AIP gene expression will help uncover its pituitary tumour-suppressor role.Aim...

ea0038p154 | Neoplasia, cancer and late effects | SFEBES2015

Adrenal pigmentation in PPNAD is a result of melanin deposition and associated with upregulation of the melanocortin 1 receptor

Cavlan Dominic , Storr Helen , Berney Dan , Evagora Chris , King Peter

Primary pigmented nodular adrenal disease (PPNAD) is a form of bilateral adrenocortical hyperplasia characterised by small to normal sized adrenal glands containing multiple small cortical pigmented nodules1. It may occur independently, but 90% of cases are a manifestation of the Carney complex. Most cases of PPNAD are diagnosed before age 30, and are the result of a germline mutation in PRKAR1A or PDE11A, leading to upregulation of cAMP signalling. It is a cause of...

ea0019p127 | Diabetes, Metabolism and Cardiovascular | SFEBES2009

Glucocorticoid effects on the programming of AT1b angiotensin receptor expression in the rat fetus

Bogdarina Irina , King Peter , Langley-Evans Simon , Clark Adrian

We recently demonstrated that fetal programming changes induced by a maternal low protein diet (MLP) that lead to the development of hypertension in the rat offspring were associated with increased expression of the AT1b angiotensin receptor (AT1b) and reduced methylation of its promoter in the adrenal gland. Previous findings have suggested that overactivity of the maternal pituitary–adrenal axis in pregnancy results in overexposure of the fetus to glucocorticoids which ...

ea0041ep32 | Adrenal cortex (to include Cushing's) | ECE2016

Adrenal pigmentation in PPNAD is a result of melanin deposition and associated with upregulation of the melanocortin 1 receptor

Cavlan Dominic , Evagora Chris , Berney Dan , Storr Helen , Drake Will , King Peter

Primary pigmented nodular adrenal disease (PPNAD) is a form of bilateral adrenocortical hyperplasia characterised by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. It may occur independently, but 90% of cases are a manifestation of the Carney complex. Most cases of PPNAD are diagnosed before age 30, and are the result of a germline mutation in PRKAR1A or PDE11A, leading to upregulation of cAMP signalling. It is a cause of ACTH-indepe...

ea0038p390 | Steroids | SFEBES2015

Alpha-MSH secretion from a gastro-intestinal stromal tumour leading to ACTH-independent Cushing’s syndrome

Cavlan Dominic , Drake William , Lowry Phil , Bicknell Andrew , Evagora Christopher , King Peter

A 51 year old woman presented with severe CushingÂ’s syndrome. In addition to a typically Cushingoid appearance she demonstrated increased cutaneous pigmentation in her face and upper chest. Biochemical investigation confirmed elevated serum cortisol levels with loss of circadian variation, and failure to suppress with low dose dexamethasone (0.5 mg 6 hourly for 48 hours). Serum ACTH levels were undetectable. Cross-sectional imaging revealed bilateral macronodular adrenal ...

ea0038p397 | Steroids | SFEBES2015

Molecular and immunohistochemical analysis of aldosterone producing adenomas

Ganatra Rea , Saunders Lewis , Sze Candy , Parker Ashley , Hall Philip , Cavlan Dominic , King Peter

Primary aldosteronism (PA) accounts for the largest proportion of cases of secondary hypertension worldwide. The majority of PA cases are a result of a unilateral aldosterone-producing adenoma (APA). The pathogenesis of APAs, the most curable form of hypertension, has been the focus of worldwide clinical interest, and is associated with mutations in four genes: KCNJ5, ATP1A1, ATP2B3, and CACNA1D. Investigation into these mutations may lead t...

ea0038p404 | Steroids | SFEBES2015

Unveiling the complexity of the undifferentiated zone in the human adrenal cortex

Hadjidemetriou Irene , Ruiz-Babot Gerard , Gomez-Sanchez Celso , King Peter , Guasti Leonardo

Background: The human adrenal cortex is composed of different zones, namely the zona glomerulosa (ZG), zona fasciculata (ZF), zona reticularis, and the recently proposed undifferentiated zone (UZ). The adrenal cortex synthesises and secretes steroids, mainly aldosterone and cortisol, both responsible for essential physiological and metabolic functions. Adrenal cortex disorders can be life threatening and current treatment involves life-long steroid replacement, which is not id...

ea0036oc4.4 | Oral Communications 4 | BSPED2014

Expression of Sonic hedgehog signalling components in the developing human adrenal cortex

Katugampola Harshini , Halder Writaja , Ganatra Rea , Dunkel Leo , Storr Helen , Guasti Leonardo , King Peter

Introduction: The Sonic hedgehog (Shh) pathway is an evolutionarily conserved signalling pathway, playing an essential role during embryonic development. Murine studies have shown the importance of Shh in the growth of the adrenocortical primordium. Shh expression has previously been described in relatively undifferentiated sub-capsular cells in the developing rodent adrenal, however the organisation of the human foetal adrenal (HFA) is unique. This novel study aimed to descri...

ea0028oc1.6 | Young Endocrinologists prize session | SFEBES2012

A homozygous glutathione peroxidase 1 mutation, p. Arg130-Leu133del, in a patient with Familial Glucocorticoid Deficiency

Kowalczyk Julia , Meimaridou Eirini , Guasti Leonardo , Nurnberg Peter , Touraine Philippe , King Peter , Metherell Lou

Background: Familial Glucocorticoid Deficiency is an autosomal recessive disorder characterised by ACTH resistance of the adrenal cortex, leading to isolated glucocorticoid deficiency. Causative genes include MC2R, its accessory protein MRAP and StAR which account for 50% of cases. Recently nicotinamide nucleotide transhydrogenase (NNT) has been associated with a further 10% of cases. NNT generates the high concentrations of NADPH in mitochondria necessary for detoxification o...