Searchable abstracts of presentations at key conferences in endocrinology

ea0013p62 | Clinical practice/governance and case reports | SFEBES2007

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia presenting as cyclical Cushings Syndrome

Carty David M , Connell John M

We present the case of a 76 year old woman who was admitted to our hospital with severe Cushings syndrome, in association with hair loss and hypokalaemia. Plasma cortisol levels were elevated, and did not suppress with high dose dexamethasone. ACTH levels were detectable throughout the HDDST. MRI pituitary and CT adrenals were normal, but CT of chest revealed an area of nodularity in the right lung. With no specific treatment her symptoms settled, and her biochemistry returned...

ea0049gp58 | Cardiovascular & Lipid Endocrinology | ECE2017

Circulating levels of miR24-1 cluster microRNAs are increased in primary aldosteronism

van Kralingen Josie , Anderson Cali , Freel E. Marie , Connell John M. , MacKenzie Scott M. , Davies Eleanor

Introduction: Measurement of microRNA (miRNA) in aldosterone-producing adenoma (APA) tissue from primary aldosteronism (PA) patients show levels of the miR24-1 cluster miRNAs (i.e. miRNAs 24-1, 27b and 23b) are significantly reduced relative to normal adrenal tissue. Our previous studies also show that miRNA-24 directly targets CYP11B2 (aldosterone synthase) gene expression. Circulating miRNAs released into the bloodstream may be diagnostic biomarkers or signalling mo...

ea0015p186 | Endocrine tumours and neoplasia | SFEBES2008

A succinate dehydrogenase B (SDHB) founder mutation

Hughes Katherine , McDougall Lindsay , Bradshaw Nicola , Perry Colin , Lindsay Robert , McConachie Michelle , Davidson D Fraser , Murday Victoria , Connell John M C

Phaeochromocytomas (PHAEO)/paragangliomas (PGL) are neuro-endocrine tumours. They may present sporadically or as the primary abnormality in a number of familial syndromes. Advances in molecular genetics have led to the identification of several PHAEO/PGL predisposing genes including VHL, NF1 and RET. Mutations in the genes encoding the subunits of Succinate Dehydrogenase (SDH) have also been reported. We describe the phenotype of a cohort of patients with a Succinate Dehydroge...