Endocrine Abstracts

Objective: We reported 3 patients with primary aldosteronism who presented at times of high plasma LH, and had somatic CTNNB1 mutations causing ˜100-fold elevation of LHCGR in their APAs (Teo et al. NEJM 2015). Subsequently we identified 4 further patients, but the association with pregnancy was not found by others. Whole exome sequencing (WES) of an APA diagnosed at onset of puberty suggests an explanation.Method: WES of tumour and blood w...

Background: Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency, with preserved mineralocorticoid production. FGD type 2 is caused by mutations in MRAP encoding the melanocortin-2 receptor accessory protein. MRAP has a single transmembrane domain essential to its function in trafficking the MC2R/ACTH receptor. 15 mutations in MRAP have been described, five of which are within the canonical donor splice-site of intro...

A 30 year old woman presented with two year history of right lower leg pain. The pain was constant, worse in cold weather, not worsened by weight bearing and occasionally woke her from sleep. On examination she was tender on palpation of mid distal right tibia. X ray showed sclerotic portions of right tibia and fibula. MR lower right leg demonstrated extensive area of intramedullary bone marrow oedema in the distal half of the right tibia with associated cortical thickening an...

The MEN1 gene is positioned on the long arm of chromosome 11 (11q13) and results in production of the protein menin. MEN1 mutations produce aberrant menin action or production, although the relationship with tumourigenesis is not clear. Mosaicism is extremely rare, a recent report citing two mosaic cases reported by next generation sequencing1. We describe a 43 year old woman with MEN1 mosaicism associated with parathyroid adenoma and probable pancreatic gastrinoma....

Pituitary carcinomas are extremely rare accounting for only 0.1%–0.2% of all pituitary tumours. The diagnosis is primarily dependent on aggressive imaging characteristics and high tumour mitotic activity on histology. A 47 year old gentleman with Type 1 Diabetes presented with an apparent non-functioning pituitary macro adenoma which was resected transsphenoidally and followed by EBRT. Initial histology was negative for ACTH. He presented 2 years later with florid Cushing...

Background: Cabergoline-associated valvulopathy (CAV) is an established complication of cabergoline therapy in Parkinson’s disease, with a definitive echocardiographic triad of severe regurgitation, leaflet thickening, and restricted valve movement without calcification. Long-term cabergoline therapy is deemed safe for prolactinoma due to low dosage. We describe the first UK case report of aortic regurgitation (AR) associated with low-dose cabergoline in prolactinoma....

Case: A 69 year old gentleman with a past medical history of essential hypertension presented to medical services with symptoms of weight loss, muscle weakness and fatigue. Following blood tests, a CT scan, liver biopsy and biochemical screening, a metastatic phaeochromocytoma was diagnosed. He was commenced on alpha and beta blockade. Further imaging, including a MIBG scan, showed non-resectable disease therefore he underwent therapeutic MIBG treatment. Following a good respo...

Introduction: The WHO classification distinguishes G3NET as a separate entity. Literature on G3NETs is limited to case-reports and small case-series. We aimed to characterise G3NETs from a large tertiary centre.Methods: Retrospective analysis from NET database: 2012–2019. All referrals are discussed at a specialist NET-MDT before entry into clinical pathway. Core NET-MDT consists of a radiologist, nuclear-medicine radiologist, histopathologist, spec...

Pseudohypoparathyroidism type 1b (PHPT1b) is a rare disorder due to resistance to parathyroid hormone (PTH) and subsequent hypocalcaemia, hyperphosphataemia and normal or raised PTH levels. Sufferers usually present in childhood with seizures or tetany due to hypocalcaemia. Typically, PHPT1b is associated with defects on the long-arm of chromosome 20 in the form of uniparental (paternal) disomy of 20q or genetic mutations or sporadic epigenetic changes in GNAS gene. G...

An 87 year old lady with a background of longstanding cognitive impairment was referred to our service with biochemical evidence of primary hyperparathyroidism. The patient had past medical history of type 2 diabetes mellitus, osteoporosis, hypothyroidism, ischaemic heart disease and primary hyperparathyroidism (under observation in a neighbouring health board). There was no pharmacological cause for cognitive impairment identified. Following acute admission after a fall with ...