Endocrine Abstracts

The term Extracellular Vesicles (EVs) encompasses all those vesicular structures (surrounded by a cell membrane) released into the extracellular environment. Virtually all cells are capable of producing EVs through highly conserved mechanisms in evolution. These vesicles serve as a communication channel between different cells of the organism due to their capacity to exchange biomolecules, including proteins, lipids, nucleic acids or carbohydrates. Their membranous packaging g...

Background: 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) is characterised by cortisol deficiency, androgen excess, varying degrees of virilisation and salt-wasting. CAH management involves replacement therapy with hydrocortisone, and, often, fludrocortisone. High levels of androgens cause the advancement of bone age (BA) with the potential to increase bone mineralisation. Hydrocortisone therapy on the contrary can contribute to reducing bone mineralisation. P...

Diabetes mellitus is a disease with one of the greatest burdens to both the economy and the individual. Monogenic diabetes mellitus, responsible for neonatal diabetes mellitus and maturity-onset diabetes of the young (MODY), results from one mutation in a single gene. Many of these genes play a role in pancreatic development and their variants can increase risk of type 2 diabetes mellitus (T2DM). Therefore, while the monogenic form of diabetes contributes the least to the over...

A 69-year-old woman was referred with a 2 year history of frontal balding, deepening voice and weight loss. Past medical history included primary hypothyroidism, osteoarthritis, varicose veins and menopause at age of 50 years. Current medications included levothyroxine. She was otherwise very well and enjoyed heightened physical endurance – regularly cycling >60 miles with a group of male friends. On examination she was virilised with male pattern alopecia, marked fac...

Pheochromocytoma is a rare neuroendocrine tumor; many cases are sporadic but 1/3 are familial or syndromic and associated with many susceptibility genes including germline mutations of the gene encoding succinate dehydrogenase (SDH) subunits. We describe the case of a 70-years-old woman with arterial hypertension poorly controlled by therapy in a patient with secondary progressive multiple sclerosis started at 25 years of age, associated with euthyroid autoimmune thyroiditis, ...

Introduction: Amiodarone induced thyrotoxicosis (AIT) remains a diagnostic and therapeutic challenge. Broadly, AIT is classified as type 1 (underlying latent thyroid disorder) or type 2 (destructive thyroiditis). Despite being an on-going clinical conundrum, there is no U.K. wide guidance on management of AIT. We report a retrospective review of recent cases treated within our department as AIT.Methods: Data was collected for all patients referred to our...

Background: Addison’s disease is characterised by immune mediated destruction of the adrenal glands. This process is widely deemed to be irreversible. We present a case of confirmed Addison’s disease where adrenal function appears to have spontaneously recovered.Case report: A 37-year-old presented in 1997 with classical Addison’s disease: pigmentation, dizziness, weight loss, and nausea. There was no relevant family history. Random cortis...

Background: Cushing’s syndrome derived from paraneoplastic ectopic ACTH production can present in dramatic fashion. We describe such a case that presented with severe hypokalaemia, involving significant diagnostic and management challenges.The case: A 66-year-old female was referred acutely to hospital by her GP after feeling weak and lethargic. She had profound hypokalaemia of 1.5 mmol/l (3.5–5.3) with normal renal function and had been normok...

Aims: The use of glucose meter downloads provides statistics (mean blood glucose level, S.D.) which may have a role in outpatient Diabetes monitoring. We aimed to compare these measures with the current gold standard, HbA1c.Methods: Thirty-eight patients had blood glucose readings downloaded from their monitoring device (Accuchek) at clinic visits over 25 months. Statistical analysis from the Accuchek Software package was per...

Aims: The use of glucose meter downloads in outpatients enables clinicians to monitor how frequently children with type 1 diabetes mellitus are testing their blood glucose level on a daily basis. We tested the hypothesis that increased frequency of blood glucose testing improves HbA1c value, the current gold standard in monitoring diabetic control.Methods: Thirty-eight patients had their glucose meter (Accuchek) downloaded at outpatient clinic vis...