Searchable abstracts of presentations at key conferences in endocrinology

ea0013oc30 | Neuroendocrinology, reproduction and cardiovascular | SFEBES2007

Consequences of variation in the CYP11B2 and CYP11B1 genes on hypothalamic-pituitary-adrenal axis activity

Freel E Marie , White Ann , Ingram Mary , Fraser Robert , Davies Eleanor , Connell John

Aldosterone is key in the development of hypertension. We have shown that a SNP (−344T) in the 5’ regulatory region (UTR) of the gene encoding aldosterone synthase (CYP11B2) was associated with aldosterone excess and high blood pressure. However, the most robust phenotype is altered adrenal 11-hydroxylation efficiency (deoxycortisol to cortisol); a step carried out by 11β-hydroxylase, encoded by the adjacent gene, CYP11B1. We proposed that the effects of CYP11B...

ea0094p171 | Adrenal and Cardiovascular | SFEBES2023

A clinical case demonstrating the challenges in diagnosing and managing Paraneoplastic Cushing’s Syndrome

Iqbal Zohaib , Ho Jan , Walker Leanne , White Ann , Monaghan Philip , Thirkettle Sally , Gulamhusein Aziz , Keevil Brian , Mansoor Wasat , Adam Safwaan

We present a case of a 62-year-old lady with a grade 3 well-differentiated metastatic gastric-neuroendocrine tumour complicated by symptoms of CS (weight-gain, bruising, proximal weakness) which developed over 4 weeks. She had progressive disease after exhausting all conventional anti-neoplastic therapeutic options. Screening tests revealed raised 24-h urinary free cortisol (3460 nmol/24h[<165]), post-overnight dexamethasone suppression serum cortisol (serF) 1200 nmol/l(&#...