Endocrine Abstracts

Introduction: Ectopic ACTH syndrome (EAS) is a rare condition, accounting for approximately 10% of all Cushing’s syndrome (CS). We assessed the experience managing this condition in our centre.Methods: 171 patients (105 female, 66 male) with elevated plasma ACTH concentrations were identified from local IT systems at a tertiary centre (University Hospitals Birmingham NHS Foundation Trust) between 2002 and 2015. An electron...

Current treatments, including surgery, medical therapy, radiotherapy, and radionuclide therapy for neuroendocrine tumours of the pancreas (PNETs) and bronchus (BNETs) are often unsatisfactory, leading to a 5-year survival of <50% and 5%, respectively. PNETs and BNETs frequently have mutations in chromatin-remodelling genes and the protein encoded by the multiple endocrine neoplasia type 1 (MEN1) gene, menin. Menin binds the...

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 ...

Case history: A 54-year-old lady was diagnosed with primary hypoparathyroidism in 2005, after being referred by her Rheumatologist as her father and brother had familial hypoparathyroidism and sensorineural deafness. She was followed up in endocrine clinic for management of primary hypoparathyroidism. Her hypocalcaemia is well managed with calcium supplementation, with no specific symptoms of hypocalcaemia. She has recurrent urinary tract infections with known borderline chron...

Background: For chronic non–life-threatening conditions such as growth hormone deficiency, adherence to treatment can be difficult to maintain at a high level especially when the benefits are not immediately apparent.1 Here, we briefly explore some of the components within an e-health ecosystem that aims at personalizing treatment and improving adherence among patients receiving recombinant human growth hormone (r hGH; somatropin, Merck Healthcare KGaA, Darmsta...

Prednisolone is widely prescribed in the UK, whereas prednisone is used instead for the same indications in the United States. Both have utility as anti-inflammatory agents and for use as glucocorticoid replacement therapy at lower doses. Oral prednisone is converted to prednisolone by first pass hepatic metabolism by 11 beta HSD-1. This study was undertaken to compare the bioavailability of prednisone against prednisolone. To determine the conversion of prednisone to predniso...

Pancreatic neuroendocrine tumours (PNETs) have a lower mutational burden than other tumours, indicating that other mechanisms contribute to tumourigenesis. One such reported mechanism is DNA methylome dysregulation, however, inconsistencies have been observed between gene methylation and protein expression, potentially stemming from the use of standard methylation assessment methods which do not distinguish methylation (5’methylcytosine (5’mC), repressive mark) from ...

Defects in any of the four functional domains of the androgen receptor (AR) (resulting from loss-of-function or gain-of-function mutations), may affect androgen action. Specific AR splice variants have been reported in women with PCOS (Wang et al, PNAS 2015 112 4743). In this study we sought to identify AR splice variants in granulosa-lutein (GL) cells of women with and without PCOS and to assess their functional significance. GL cells were ...

A 54-year-old man with a recurrent non-functioning pituitary gonadotroph adenoma previously treated with transphenoidal surgery (TSS) in 2015, presented to Charing Cross hospital for repeat transsphenoidal surgery in May 2022. Since his initial surgery, he remained on Levothyroxine 50 μg once daily only. There was no evidence of adrenal insufficiency (0900 h cortisol 333 nmol/l at day 6 following initial TSS). In February 2022, his electrolytes, FSH, LH, testosterone, pro...

Background: CALM-NET (EudraCT 2013-002194-22; NCT02075606), a prospective, exploratory study, evaluated enumeration of pre-treatment circulating tumour cells as a predictor of symptomatic response to lanreotide autogel (LAN) in patients with functional midgut neuroendocrine tumours (NETs). Here, we describe the effect of LAN on biomarkers.Methods: Patients, ≥18 years, with functional, well- or moderately-differentiated midgut NETs were treated with...