Endocrine Abstracts

Familial isolated pituitary adenoma (FIPA) is an increasingly recognised cause of familial pituitary tumours with autosomal dominant inheritance. An increased population risk of AIP mutations has recently been reported in Ireland. We present the cases of three siblings, with likely AIP related disease, attending endocrinology clinics in Glasgow. Patient one has been confirmed to be an AIP mutation carrier.Patient 1 ...

A 47-year-old female presented with facial swelling, easy bruising, and concern regarding possible Cushing’s syndrome. She had developed secondary amenorrhoea 3 years previously; biochemistry suggested hypogonadotrophic hypogonadism, felt to be hypothalamic secondary to low BMI and intense exercise. She was normotensive, and BMI was 17.4. There was no evidence of abdominal striae, proximal myopathy or hirsutism, but her face appeared rounder and plethoric compared with a ...

Section 1: Case history : The case concerns a 53-year-old gentleman who developed calciphylaxis following a bioprosthetic aortic valve replacement. His past medical history included Multiple Endocrine Neoplasia Type 1 (MEN-1) for which he had previously undergone total parathyroidectomy with failed graft auto-transplantation. The resulting hypoparathyroidism was managed with alfacalcidol and calcium supplements. Post cardiac valve replacement he developed acute renal injury an...

Within the last 25 years more than 400 cases with suspected Familial Glucocorticoid Deficiency (FGD) have been referred to our centre for genetic testing. All cases had low or undetectable serum cortisol paired with an elevated plasma ACTH level. Our patient cohort comprises 352 families from 30 different nationalities and ranges from neonates to patients in their eighties. In 1993 the first gene defect, in MC2R, was discovered by candidate gene sequencing. Subsequent...

Introduction: The physiological actions of catecholamines have led to the empirical use of adrenaline in the management of anaphylaxis, with alpha-adrenergic activation increasing peripheral vascular resistance and beta-adrenergic activation relaxing bronchial smooth muscle and inhibiting histamine release. Supraphysiological levels of catecholamines are released by phaeochromocytoma and hence blockade of these same receptors is required for symptom control, prevention of end ...

Introduction: Incidental indeterminate adrenal nodules discovered on imaging in patients under the care of University Hospitals of Derby and Burton Foundation Trust are discussed in Urology MDT. MDT cases were reviewed for a 12 month period before an endocrinologist joined the MDT in January 2018 and 12 months afterwards, to review the compliance of local practice with European Society of Endocrinology (ESE) Guidelines for the management of adrenal incidentalomas.<p class=...

Introduction: Non-classical congenital adrenal hyperplasia (NCCAH) is a common autosomal recessive disorder characterized by androgen excess. It classically presents in later life with symptoms of acne, hirsutism, and premature adrenarche. This case illustrates a rare case presentation of NCCAH in early infancy.Clinical case: An 18 day old term male infant was brought to the A&E for 9% weight loss. On review he was mottled, but otherwise examination ...

Background: Approximately 20% of NET patients develop CS, characterised by diarrhoea and flushing. However, CS is not the only cause of diarrhoea among NET patients. Non-CS causes should be considered to allow for appropriate management. We investigated the reported occurrence of diarrhoea from various non-CS causes in patients with gastroenteropancreatic NETs (GEP-NETs), to explore the need for differential diagnosis (DDx) of NET diarrhoea.Methods: MEDL...

A 37 year old lady with relapsing Graves’ thyrotoxicosis initially managed on a ‘block and replace regime’ with propylthiouracil and levothyroxine for 7 years had her medication changed to carbimazole after a relapse from non-compliance but developed agranulocytosis. She was then restarted on an increased dose of propylthiouracil alone. Two weeks later, she developed tender purpuric lesions and was admitted after developing painful bullous lesions to her lower l...

Intracellular cortisol is regulated by 11βHSD1. Although the field has focused on regeneration of cortisol from inert cortisone by 11β-reductase activity of 11βHSD1, we have used stable isotope tracers and arteriovenous sampling to quantify simultaneous dehydrogenase (cortisone generation) and reductase (cortisol regeneration) in human adipose and skeletal muscle. In vitro studies suggest insulin regulates this balance of reductase vs dehydrogenase acti...