Endocrine Abstracts

A 27-year-old woman with familial exudative vitreoretinopathy (FEVR) experienced multiple childhood fractures, including wrist (aged 7y), hip (aged 10y) and numerous vertebrae. She had low bone mineral density (BMD) (Z scores < -2.5 at multiple sites aged 9; persistently low BMD as an adult) and was short (height below 1st centile). Other features included an unusual facies and mild intellectual impairment. Her mother also had FEVR, dental hypoplasia, mild intellectual imp...

Introduction: Primary hyperparathyroidism affects 0.3% of the general population1. 90% are due to single parathyroid adenoma1. Surgical treatment is the only definitive cure2. Improvements in imaging permit radiologists to better identify parathyroid adenomas1, enabling more targeted surgery1, thus shortening general anaesthesia, as well as lowering post-operative complication rates. Neck ultrasound (US) and parathyroid sc...

Primary hyperparathyroidism (PHP) is the most common aetiology for hypercalcaemia. Its prevalence in pregnancy is reported to be between 0.15% and 1.4%[i][ii]. It presents a threat to the health of both mother (hyperemesis, nephrolithiasis) and foetus (foetal death, congenital malformations, neonatal severe hypocalcaemia induced tetany)[iii][iv]. However, there is a lack of clear guidance on management of primary hyperparathyroidism in pregnancy. We describe the ...

The in-hospital pharmacological management of patients with diabetes has recently been identified by the National Diabetes Inpatient Audit as a key safety issue. Over 30% of inpatient drug charts surveyed in the 2013 audit had at least 1 diabetes medication error in the preceding week. Patients with a diabetes medication error on their drug chart were also twice as likely to have one or more hypoglycaemic episodes during their hospital stay.A paper by Br...

Thyrotoxicosis results in osteoporosis and thyroid hormone (T3) stimulates osteoclastic bone resorption by unknown mechanisms. We previously demonstrated that knockout mice lacking thyroid hormone receptor α (TRα0/0) are euthyroid but have high bone mass, whereas mice lacking TRβ (TRβ−/−) are thyrotoxic and have osteoporosis. Tartrate resistant acid phosphatase (TRAcP) staining revealed osteoclast numbers were re...

Case: We present the case of a previously fit and well 53-year-old lady who presented with persistent hypokalaemia (1.9 mmol). She was cushingoid and testing confirmed Cushing’s syndrome with random cortisol of >1750 nmol/l, ACTH 838 ng/l and non-suppressed cortisol (1099 nmol/l) after low dose dexamethasone suppression test. MRI pituitary was normal. Abdominal CT scan showed bilateral adrenal hyperplasia and large (>10 cm) mass with necrotic centre replacing the ...

Introduction: The human endometrium has a remarkable capacity for repeated repair following the inflammation of menstruation. This occurs without scarring or loss of function but mechanisms involved remain undefined. Aberrations in endometrial repair may lead to pathology such as heavy menstrual bleeding (HMB). The transforming growth factor-β superfamily has been implicated in efficient wound repair and has a potential role in menstrual repair. Downstream of TGF-β, ...

Thyroid hormones regulate adult bone turnover. Thyrotoxicosis results in high turnover osteoporosis whilst hypothyroidism leads to low bone turnover with increased bone mass and mineralisation. T3-target tissues express thyroid hormone receptor alpha (TRα), thyroid hormone receptor beta (TRβ)or both receptors. TRα1 mediates the actions of T3 in bone and in skeletal cells TRα1 mRNA expression is 12-fold higher than TRβ1. Accordingl...

Childhood hypothyroidism results in delayed skeletal maturation and impaired growth. Thyroid hormones act via thyroid hormone receptors α (TRα) and TRβ which are tempo-spatially regulated. In the skeleton, TRα is the predominant receptor, thus we hypothesise that the skeletal effects of hypothyroidism are mediated by TRα. To investigate this we assessed the response of wild type (wt), TRα knockout (TRα0/0) and TRβ knockout (TR...

This presentation will consider the ways that modern genetics and lipidomics are beginning to increase our understanding of specific lipid disorders that bear on human disease, ranging from life-threatening conditions of infancy through severe coronary heart disease of young adulthood, to indolent disorders of middle- and old-age. The case will be made for replacing the traditional, but now 45-year-old, Fredrickson and Lees essentially phenotypic classification of hyperlipidae...