Endocrine Abstracts

Isochromosome Mosaic Turner Syndrome (IMTS) is a variant of Turner Syndrome (TS) characterized by cytogenetic profile of 1 or more additional cell lineages aside from 45,X, and the presence of a structurally abnormal X chromosome consisting of either two short or two long arms. IMTS is rare, with only 8–9% prevalence among women with TS based on international studies, and 15% of all TS in the Philippines. A 20 year old female came in due to amenorrhea and alopecia. Physic...

BackgroundEctopic ACTH secretion accounts for 9–18% of ACTH dependent Cushing’s’ syndrome. The most common causes are intrathoracic neuroendocrine tumours. Gastric tumours as a cause of ectopic ACTH secretion are remarkably rare.Case reportA seventy-five-year-old gentleman complained of a four month’s history of epigastric discomfort, anorexia, and weight loss. He was a known diabetic and ...

Introduction: Pituitary – dependent Cushing’s disease accounts for approximately 80% of endogenous Cushing’s syndrome but a target lesion is only detectable on MRI in 60% of cases. 11C-methionine PET CT improves detection of indeterminate pituitary lesions. Osilodrostat is a novel steroidogenesis inhibitor which reduces cortisol levels with resultant rise in ACTH and may further enhance the sensitivity of 11C-methionine PET CT in difficult cases...

A 55-year-old post-menopausal female presented with hirsutism and increased libido. Testosterone was elevated at 9.7 (RR <1.8 nmol/l). LH/FSH were appropriate post-menopause (LH 28.8; FSH 54.1U/l). DHEAS, androstenedione and 17-hydroxyprogesterone were unremarkable. GnRH analogue suppression testing (GnST) appropriately suppressed LH/FSH and testosterone (testosterone 0.2 nmol/l), suggesting an LH-dependent source of testosterone. Pelvic MRI suggested a left ovarian tumour...

Improved knowledge of adipogenesis is necessary to gain insight into brown and white fat physiology. Interest in adipocyte differentiation has increased markedly over the past few years with emphasis on intersection between microRNAs (miRNAs) and the transcriptional cascade that controls adipogenesis and metabolic dysfunction. The aim of this study is to identify miRNAs that regulate white and brown adipocyte differentiation and define miRNA action in a stem cell model of adip...

Macroprolactinaemia, a common phenomenon variably expressed in different assays, influences interpretation of prolactin results, as recognised since 1978. The degree of macroprolactinaemia manifest over time is less well described. We examined how macroprolactin status (based on polyethylene glycol(PEG) precipitation prolactin % recovery) varied over serial measurements in hyperprolactinaemic individuals.Methods: All serum total prolacti...

Introduction: Surgery in nonfunctional pituitary adenomas (NFPAs) is usually indicated when there is mass effect or progressive increase in size. Our study aims to analyze NFPAs which were operated until the end of 2023 in a well-defined population.Methods: A retrospective analysis of 128 operated patients with NPFAs, diagnosed at the only central national service hospital in Malta, between January 1980 and December 2023, was performed. Detailed clinical...

Introduction: Efficient fuel selection between glucose and fatty acids in insulin-sensitive organs is a key feature which determines metabolic health in humans. In skeletal muscle, lipid storage and utilisation can differ between healthy and diseased individuals, however to date there are limited in vitro models to explore this. Therefore, aim of this work was to investigate the effects of nutrition on engineered skeletal muscle health and metabolism.<p class="abs...

Advances in trauma care have improved survival resulting in more severely injured individuals surviving to enter the trauma care pathway. A significant threat to recovery is now the dysregulated immune response to injury. The hyperinflammatory response of the innate immune system (SIRS), combined with immunoparesis, leads to complications such as multi-organ failure and sepsis. Moreover, recovery from trauma is significantly affected by age, which may be due to changes in the ...

Bone turnover markers (BTMs) may have a role in assessing bone turnover and response to intervention in Paget’s disease. We examined the clinical utility of bone turnover markers at diagnosis through analysis of our database of patients with radiographically confirmed Paget’s disease.We identified 36 patients (20 men); mean age at diagnosis was 71.6 years (range 54–84). Radionuclide imaging identified that 64% had polyostotic disease, with...