Endocrine Abstracts

Case history: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disorder caused by heterozygous pathogenic variants in the FLCN gene encoding folliculin on chromosome 17p11, first described clinically in 1975. It is a ‘hamartomatous’ disorder usually manifesting with pulmonary cysts, benign cutaneous tumours and conferring a high risk of renal malignancy. A 43 year old man had a 34 x 22 mm right adrenal nodule discov...

Background: Evidence suggested a hypercoagulable state in the context of hyperthyroidism. We presented a case of cerebral venous thrombosis (CVT), a rare but potentially fatal complication of the already high mortality thyroid storm.Case History: A 16year old boy with Asperger’s syndrome was admitted with one-month history of non-specific illness and weight loss followed by 2 weeks of progressive frontal headaches and vomiting, weakness in left arm ...

Background: Given the technically challenging nature of adrenal venous sampling (AVS) there is a drive to centralise services to improve successful outcomes. This has potential implications for patients living in remote and rural areas.Methods: We retrospectively reviewed the case notes of 15 patients who underwent AVS in our hospital, for investigation of primary hyperaldosteronism between 2002 and 2015. We assessed the success rate of cannulation of th...

5α-Reductase 1 (5aR1) catalyses A-ring reduction of glucocorticoids and androgens, predominantly in liver and modulates steroid hormone action. We previously demonstrated transgenic disruption of 5aR1 predisposes mice to developing fatty liver. Here we tested whether 5aR1 disruption increases susceptibility to the development of liver injury, using the carbon tetrachloride induced liver fibrosis model.Male 5aR1−/− (KO) mice and wild-type...

Background & Aims: Observational studies implicate glucocorticoid excess, principally due to altered steroid metabolism in target tissues, in both the insulin resistance and liver fat accumulation that accompanies type 2 diabetes. To test the contribution of glucocorticoid signalling to metabolic dysfunction we blocked cortisol secretion (with metyrapone) and action (with the GR antagonist mifepristone) simultaneously in men with type 2 diabetes ± fatty liver.<p c...

Aims: The United Kingdom (UK) guidelines for management of acute pituitary apoplexy recommend the Pituitary Apoplexy Score (PAS) to objectively assess clinical severity of this rare neuro-endocrine emergency. We aimed to apply retrospectively this scoring tool to a large, single centre series of patients with acute pituitary apoplexy, and to determine its applicability in the management of these patients in the acute setting.Methods: Retrospective study ...

Introduction: Pituitary adenomas are uncommon in childhood and adolescence and knowledge of long-term outcomes is sparse. We describe a large cohort of patients, now attending our adult clinic.Patients and methods: Retrospective review of patients aged ≤18 years at diagnosis of a pituitary adenoma.Results: There were 24 patients (18 female), mean age at diagnosis 15.6 (range 11–18) years, current age 25.5 (14–47). O...

Background: Pituitary apoplexy is rare resulting from acute haemorrhagic infarction of a pituitary adenoma. Optimal management in the acute stage still remains a matter of debate.Methods: Retrospective analysis of casenotes of patients presenting with acute apoplexy at a single neurosurgical centre between 1984 and 2009 in the United Kingdom.Results: Fifty-five patients (35 males, mean age 52.4 (range 14–78) years, mean years ...

Background: In mice, a methionine-choline deficient diet (MCDD) causes steatohepatitis and hepatic insulin resistance. In contrast, a simple choline-deficient diet (CDD) causes liver fat accumulation without steatohepatitis, insulin resistance or weight loss. We hypothesised that differences in liver and adipose fatty acid metabolism underlie the contrasting predisposition to steatohepatitis and hepatic insulin resistance.Methods: C57Bl6 mice (male, aged...

Objectives: There is some evidence that growth hormone deficient (GHD) children with a common polymorphism of the growth hormone receptor (GHR) gene, resulting in deletion of exon-3 (d3GHR) on one (d3/fl) or both alleles (d3/d3), have a better growth response to rhGH than those who express exon 3 on both alleles (fl/fl). We speculated that adult patients with this polymorphism may also be more sensitive to rhGH and less likely to be symptomatic from GHD th...