Endocrine Abstracts

Hyperparathyroidism jaw tumour syndrome (HPT-JT) is an autosomal dominant disease with variable penetrance. Onset is typically in late adolescence or early adulthood. Primary hyperparathyroidism is typically caused by a single parathyroid adenoma but parathyroid carcinoma occurs in 10–15%. Ossifying fibroma of the mandible or maxilla occurs in 30–40%, and may be locally aggressive. 15% of patients have renal manifestations which include polycystic kidney disease, Wil...

Chronic kidney disease (CKD) is an important complication of diabetes and determinant of mortality. Albuminuria represents early diabetic nephropathy, and also indicates generalised vascular dysfunction. Understanding the epidemiology of CKD and albuminuria helps inform health planning and identify opportunities to prevent or delay progression of diabetic kidney disease. The last available serum creatinine and urine albumin/creatinine ratio (UACR) in patients with Type 1 (T1DM...

Introduction: Prader–Willi syndrome (PWS) is a genetic syndrome usually diagnosed in childhood. Its reported prevalence ranges from one in 8000 to one in 45 000 with geographical variation. Clinical manifestations include obesity, hyperphagia, short stature, incomplete sexual development, and cognitive disabilities. The majority of published data regarding PWS comes from paediatric populations.Materials and methods: This is a retrospective observati...

Cyclophosphamide is an alkylating agent used in the treatment of malignant and autoimmune diseases. Severe hyponatraemia is a serious electrolyte disorder with life threatening neurological sequelae. We report a case of recurrent severe, symptomatic hyponatraemia that developed in a 61 year old female with systemic vasculitis and Sjogrens syndrome following low-dose cyclophosphamide.Case report: A 61 year old lady, with ANA positive systemic vasculitis p...

NADPH generated by hexose-6-phosphate dehydrogenase (H6PDH) within the lumen of the endoplasmic reticulum (ER) drives the reductase activity of 11β-hydroxysteroid dehydrogenase type 1 (11-βHSD1) allowing the production of active glucocorticoids. H6PDH knockout (H6PDHKO) mice develop a vacuolating myopathy, reduced muscle mass and display activation of the ER stress response. However, the role of glucocorticoids and 11β-HSD1 in the myopathy phenotype is not clear...

Adipsic diabetes insipidus (ADI) is a rare condition which has been reported following clipping of anterior communicating artery aneurysms, craniopharyngioma and brain trauma, but not with pituitary adenoma. We report a case of ADI following surgery for a pituitary macroprolactinoma. A 14-year-old boy presented with bitemporal hemianopia due to a large macroprolactinoma. Two debulking surgeries were performed without the development of diabetes insipidus. Following a third rad...

Hyponatraemia is commonly encountered in neurosurgical units. Salt wasting syndrome is rare, and thought to occur due to ANP- and BNP-mediated natriuresis, leading to hypovolemic hyponatraemia. A 31 year old male was transferred to the National Neurosurgical Unit with a 12 hour history of back pain, progressive lower limb weakness and sensory loss. MRI demonstrated an epidural haematoma, extending from C7 to T3, and he underwent emergency decompressive laminectomy. Vasopressin...

Transsphenoidal surgery (TSS) to resect a corticotroph adenoma is the first-line treatment for Cushing’s disease (CD); remission rates of up to 80% have been reported in cases of microadenomas. Endocrine Society guidelines define post-operative biochemical remission as morning serum cortisol <138 nmol/L within seven days of surgery. Our practice is to use a cut-off of <50 nmol/L at day 3 post-op to indicate biochemical remission. If serum cortisol on day 3 is 50&#...

Adrenal mineralocorticoid biochemistry differs between people of African and European ancestry. The aldosterone/renin ratio (ARR) is the initial screening test for primary hyperaldosteronism (PHA), but little data exists regarding ethnic variations in this.Following clinical observation of a high prevalence of abnormal ARR in patients of African origin, we retrospectively reviewed all ARR measurements in a single centre over 10 years. Rates of hypokalaem...

Idiopathic Isolated ATCH deficiency (IIAD) is a rare cause of secondary adrenal insufficiency characterised by ACTH deficiency with otherwise intact pituitary function. Our objective was to describe the presentation, the autoimmune associations and diagnostic findings observed in IIAD. We present a case series of 19 cases of idiopathic Isolated ACTH deficiency which were identified from the National Pituitary Register in Ireland. A chart and biochemical review was performed to...