Endocrine Abstracts

Screening is expected to diagnose and treat early stage disease in the hope of deriving survival benefits with decreased iatrogenic morbidity. This model is little argued for malignant disease but triggers intense debate for primary hyperparathyroidism (PHPT).Despite an estimated incidence of 20/100 000 persons-years, relatively small numbers of patients undergo parathyroidectomy yearly. In the USA, over 75% of subjects are observed without parathyroid s...

IntroductionThere is growing interest in the impact of parathyroidectomy on quality of life in patients with primary hyperparathyroidism (PHPT). The aim of this study was to asses the symptomatic improvement in a cohort of patients with PHPT operated in a single centre in the UK.MethodsA prospective study of consecutive unselected patients with biochemical diagnosis of PHPT was approved by the Local Ethical C...

A 28 year old female with no significant medical history, 25 weeks into her second pregnancy was referred to endocrinology with adjusted calcium of 2.99 mmol/l. She had a short history of generalised aches and tiredness. Examination did not reveal any stigmata of MEN1 or the HPT-JT syndromes. There was no known family history of endocrine disorders. Her PTH was 7 pmol/l, confirming primary hyperparathyroidism. As parathyroid Tc-scintigraphy would be contraindicated in pregnanc...

Introduction: The Birt–Hogg–Dube syndrome (BHDS) is a rare autosomal dominant genodermatosis characterised by presence of at least one of the following: benign skin fibrofolliculomas, lung cysts with recurrent pneumothoraces or renal tumours. The phenotypic constellation is due to heterozygous germline mutations of the tumour suppressor gene – FLCN, located on 17p11.2, encoding a 579 aminoacid protein termed folliculin. Case reports have described endocrine tumo...

A 48-year-old woman presented to her GP with polyuria and proximal muscle weakness. She was found to have newly developed hypertension at 180/96 and her serum potassium was 2.7 mmol/l. Lisinopril 40 mg od and Slow-K 1 tablet bd were started and she was referred for further investigation.On clinic review blood pressure was 188/110 supine and 190/110 standing. Serum sodium was 147 mmol/l, potassium 3.7 mmol/l and total bicarbonate 29 mmol/l. Her Lisinopril...