Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology BES 2016

Brighton, UK
07 Nov 2016 - 09 Nov 2016

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07 Nov 2016 to 09 Nov 2016 Brighton, UK Further information

Symposia

Advances in the genetic understanding of endocrine disease

ea0044s4.2 | Advances in the genetic understanding of endocrine disease | SFEBES2016

Applying new developments in the genetic understanding of inherited pituitary adenoma

Beckers Albert

There are a number of established and recently identified inherited or congenital forms of growth hormone (GH) secreting pituitary tumors. These may be caused by an abnormality in the genetic sequence of responsible genes including MEN1, AIP, CDKN1B, and PRKAR1A. Copy number variation for these and other genes may also contribute to pituitary tumorigenesis, such as duplication of the gene GPR101 in X-linked acrogigantism (X-LAG) syn...

ea0044s4.3 | Advances in the genetic understanding of endocrine disease | SFEBES2016

Somatic mutations and adrenal remodelling in hyperaldosteronism

Brown Morris

Primary Aldosteronism (PA), due to a unilateral aldosterone-producing adenoma of the adrenal (APA), is the commonest curable cause of Hypertension, but the prospects for cure fall with age. APAs rarely increase in size, suggesting an origin much earlier than the development of resistant hypertension. Most APAs have gain-of-function somatic mutations which result in increased Ca2+ entry, and constitutive activation of aldosterone production. Women with larger APAs, a...