Endocrine Abstracts

Primary aldosteronism (PA) is a form of endocrine hypertension characterized by autonomous aldosterone secretion. Aldosterone-producing adenomas (APAs) are a significant cause of unilateral PA, where aldosterone overproduction is driven by a somatic mutation in an ion pump or channel. Multiple studies have shown that mutations in the KCNJ5 gene are the most prevalent in PA patients suffering from the unilateral subtype, and unilateral laparoscopic total adrenalectomy ...

Hypercalcemia is a relatively common extrapulmonary manifestation of sarcoidosis. Sarcoidosis-associated hypercalcemia is due to the uncontrolled synthesis of 1,25-dihydroxycholecalciferol and increased intestinal absorption of calcium which usually results in a low serum concertation of parathyroid hormone (PTH). High levels of PTH in patients with hypercalcemia secondary to sarcoidosis is usually an indication of co-existent primary hyperparathyroidism. We present a case of ...

: A family with generalised resistance to thyroid hormone secondary to a missense point mutation in thyroid hormone receptor β (TR-β) gene corresponding to substitution of arginine to histidine at amino acid 438 (R438H) is described in three successive generations.Case 1: (Index case) A 43 year old lady presented with thyrotoxicosis and was initially treated with carbimazole followed by radio-iodine ablation of the thyroid. Thyroxine was commen...

A 28 year old man with a background of hypothyroidism presented to hospital following a collapse. He had a one week history of unrelenting vomiting with malaise. On examination, he appeared dehydrated and was profoundly hypotensive with a blood pressure of 56/25 mm Hg. General examination was otherwise unremarkable. The blood tests demonstrated acute kidney injury with serum creatinine 227 mmol/L and hyponatraemia with serum sodium 130 mmol/L. His potassium was within normal l...

Diabetes Mellitus (DM) is the ninth leading cause of death worldwide. Mortality from DM is largely attributed to disease complications. Glycemic control of DM patients reduces mortality. Studies indicated that the lack of glycemic control in DM patients could be influenced by the genetic background of the patients. Evidence suggests that adiponectin levels are dysregulated in DM patients with poor glycemic control. Serum adiponectin level is a heritable trait influenced by sin...

Background: Type two Diabetes Mellitus (T2DM) is a rapidly growing crisis. Data from several T2DM cohorts demonstrate that elevated levels of serum branched chain amino acids (BCAAs) increase the risk of the disease. BCAAs levels correlate with parameters that reflect glycemic control. Elevated levels of BCAAs in T2DM is associated with a higher risk of complications. Vitamin D plays an important role in regulating insulin action on target tissues. Normalization of serum vitam...

Evidence suggests that empowering patients of chronic illness with self-management skills improves the outcomes. European countries with high emphasis on diabetes self-management education report significantly better clinical outcomes. In PREM survey, few service users expressed the desire to know the results of their annual review blood results. We used this as a trigger for a project to inform service users about their annual care processes completion status. We describe the...

Background: Screening for Congenital hypothyroidism is part of National New-born screening program. Each District General Hospital is required to have a Congenital Hypothyroidism Service with a Lead Paediatrician and a Deputy to provide seamless service to babies with suspected congenital hypothyroidism and their families. National guidelines and service standards exist to guide setup, operation and auditing of this service.Aim: We aim to benchmark the p...

Disorders of calcium metabolism are common in Sarcoidosis. The frequency of hypercalciuria and hypercalcaemia has been reported as 30–50% and 10–20% respectively. The underlying mechanism is enhanced PTH independent extra-renal production of 1,25-Dihydroxy Vitamin D (Calcitriol) which increase absorption of Calcium from the gut causing hypercalcaemia.A 79 year old lady was admitted with fever, cough and night sweats and was treated for pneumoni...

A 83-year-old gentleman admitted with nausea and feeling generally unwell. Past medical history of hypertension, duodenal ulcer, previous gastric surgery, polymylagia rheumatica and type two diabetes mellitus. Chest XR showed right basal pneumonia which was treated with antibiotics. Patient admitted to significant weight loss therefore he had thoracic-abdominal CT scan performed which showed 4 cm by 4 cm solid cystic lesion in the left adrenal gland possibly malignant. Subsequ...