Searchable abstracts of presentations at key conferences in endocrinology

ea0007p289 | Clinical case reports | BES2004

A case of non-classical 11-beta hydroxylase deficiency

Freel E , Wallace M , Fraser R , Davies E , Connell J

A 33 year old male was referred with poorly controlled hypertension. He gave no other past medical or family history. Despite therapy with multiple agents blood pressure was poorly controlled at 200/130 mm/Hg. Initial investigations which included renal ultrasound, magnetic resonance angiography and urine catecholamine excretion were all negative. Plasma renin concentration was suppressed (1 mu/ml/L, normal range 5 to 50) and plasma aldosterone was raised at 650 pmol/L (normal...

ea0005p86 | Diabetes, Metabolism and Cardiovascular | BES2003

Autosomal dominant neurohypophyseal diabetes insipidus associated with a glutatmine47 deletion

Alcocer L , Boxer M , Connell J , Ahmed S

We describe a 3 year old Scottish girl with polyuria and nocturia and a past history of congenital heart disease. In addition to her excess fluid intake she had reduced food intake, failure to thrive and growth failure. Her sister, father, grandfather and a paternal aunt and uncle had a clear history of polyuria, nocturia and excess thirst. A fluid deprivation test revealed peak serum Na, serum and urine osmolalities were 147 mmol/L, 300 mOs/kg, 176 mOs/kg, respectively, in th...

ea0005p222 | Steroids | BES2003

In vitro expression of human aldosterone synthase and 11-beta hydroxylase

Inglis G , Davies E , Fraser R , Connell J

The key enzymes in the terminal stages of human adrenal gland corticosteroid biosynthesis are aldosterone synthase (AS) and 11-beta hydroxylase (11beta-OHase). Their amino acid sequences differ by only 7% but they exhibit markedly different enzymatic activities. AS is expressed solely in the zona glomerulosa and converts 11-deoxycorticosterone (DOC) to aldosterone whereas 11beta-OHase is expressed mainly in the zona fasciculata and produces cortisol from 11-deoxycortisol. The ...

ea0005p252 | Steroids | BES2003

The influence of anticoagulant preservatives, time and posture in renin measurements and estimation of aldosterone to renin ratio (ARR)

Al-Hashmi K , Morton J , Elliott H , Connell J

Background: The aldosterone to renin ratio (ARR) is a useful screening test for primary aldosteronism. Renin can be measured as activity or concentration; the accuracy of the ARR depends on these measurements and the factors that may affect them. We carried out two studies; the first assessed the correlation between plasma renin concentration (PRC) and renin activity (PRA) and the agreement between them using two anticoagulants (EDTA and lithium heparin). The second evaluated ...

ea0004oc31 | Neuroendocrinology and diabetes | SFE2002

EFFECT OF COMBINED HORMONE REPLACEMENT THERAPY ON GLUCOSE METABOLISM IN POSTMENOPAUSAL WOMEN WITH TYPE 2 DIABETES; A RANDOMISED CONTROLLED TRIAL

Kernohan A , Lumsden M , Cleland S , Petrie J , Connell J

Prescription rates for HRT in women with type 2 diabetes are low. One reason for this is concern about adverse metabolic effects although evidence on this is limited. We report results from a 3-month randomised, double blind, placebo-controlled trial of 1mg 17-beta oestradiol combined with 0.5 mg norethisterone acetate in postmenopausal women with type 2 diabetes. The study has full local ethics committee approval.29 subjects entered the study; 1 taking ...

ea0004dp23 | Diabetes, metabolism and cardiovascular | SFE2002

EFFECT OF COMBINED HORMONE REPLACEMENT THERAPY ON GLUCOSE METABOLISM IN POSTMENOPAUSAL WOMEN WITH TYPE 2 DIABETES; A RANDOMISED CONTROLLED TRIAL

Kernohan A , Lumsden M , Cleland S , Petrie J , Connell J

Prescription rates for HRT in women with type 2 diabetes are low. One reason for this is concern about adverse metabolic effects although evidence on this is limited. We report results from a 3-month randomised, double blind, placebo-controlled trial of 1mg 17-beta oestradiol combined with 0.5 mg norethisterone acetate in postmenopausal women with type 2 diabetes. The study has full local ethics committee approval.29 subjects entered the study; 1 taking ...

ea0003oc29 | Metabolism | BES2002

Deleterious effect of non-esterified free fatty acids (NEFAs) on resistance artery endothelial function

Sainsbury C , Hillier C , Sattar N , Petrie J , Connell J

Elevated circulating concentrations of non-esterified free fatty acids (NEFAs) are observed in states of insulin resistance and may be associated with increased cardiovascular risk. We hypothesised that NEFAs directly impair endothelial NO bioavailability via increased oxidative stress, in addition to their proposed indirect effect via VLDL. The study was designed to investigate the effect of monounsaturated and saturated fatty acids on endothelium-dependent and -independent v...

ea0003p49 | Clinical Case Reports | BES2002

Li-Fraumeni syndrome with adrenocortical tumours producing oestrogens in the father and testosterone in his 18-month-old daughter

O'|#Connell J , Green A , O'Shea D , McKenna T

The index case, a 26-year-old man, presented with a 15-month history of gynaecomastia. Investigations revealed a large left-sided adrenal mass that secreted oestrone and oestradiol, with suppression of FSH, LH and testosterone production. It was removed in 1991 with correction of the hormonal abnormalities and follow-up has shown no recurrence to date.In April 2001 the eighteen-month old daughter of the index case developed greasy skin, acne, pubic hair...

ea0003p89 | Diabetes & Metabolism | BES2002

Abnormalities of vascular function and fibrinolysis in young women with polycystic ovary syndrome

Kelly C , Sattar N , Petrie J , Lyall H , Connell J

Background Polycystic ovary syndrome (PCOS) affects between 5-10% of premenopausal women and is characterised by insulin resistance. PCOS also carries with it an increased lifetime risk of diabetes, hypertension and possibly coronary heart disease. The underlying mechanisms are unknown but we have proposed that metabolic insulin resistance may be associated with endothelial dysfunction, leading to increased vascular stiffness, abnormalities of fibrinolysis and increased platel...

ea0003p258 | Steroids | BES2002

In vitro expression of catalytically active human aldosterone synthase

Inglis G , Davies E , Stewart P , Fraser R , Connell J

The key enzymes in the terminal stages of human adrenal gland corticosteroid biosynthesis are aldosterone synthase (AS) and 11beta-hydroxylase (11beta-OHase). Their amino acid sequences differ by only 7% but they exhibit markedly different enzymatic activities. AS is expressed solely in the zona glomerulosa and converts 11-deoxycorticosterone (DOC) to aldosterone whereas 11beta-OHase is expressed mainly in the zona fasciculata and produces cortisol from 11-deoxycortisol. The 3...