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ea0011p739 | Steroids | ECE2006

A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency

Lovas K , McFarlane I , Dorrian CA , Schwabe J , Wallace AM , Chatterjee VKK

Three siblings of Pakistani origin presented shortly after birth with failure to thrive and hyperkalemia and were found to have isolated hyperreninaemic hypoaldosteronism. They were all well controlled on fludrocortisone therapy during childhood and adolescence. When reassessed in adult life off fludrocortisone treatment, hyperreninaemic hypoaldosteronism was confirmed in all subjects, but with significant hyperkalemia in only one case. None of the subjects developed orthostat...

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ea0002p37 | Endocrine tumours and neoplasia | SFE2001

Minimally invasive parathyroid surgery with intra-operative PTH measurement: an economical approach to the management of primary hyperparathyroidism

Gurnell E , Poultsidis A , McFarlane I , Sarkar A , Curran S , Hitchcock M , Munday I , Raggatt P , Balan K , Edwards O , Wishart G , Chatterjee V

BACKGROUND: Primary hyperparathyroidism (HPT) is increasingly diagnosed, particularly in an older population. Recent studies indicate improvement in bone mineral density (BMD) and psychological wellbeing even following treatment of apparent asymptomatic disease, supporting a lower threshold for surgical intervention. With disease being due to a solitary adenoma in most (83%) cases, we have utilised preoperative imaging together with intra-operative parathyroid hormone (IOPTH) ...

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Endocrine Abstracts

A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency

Minimally invasive parathyroid surgery with intra-operative PTH measurement: an economical approach to the management of primary hyperparathyroidism

BiosciAbstracts