Endocrine Abstracts

Background: Activating mutations in the calcium sensing receptor can result in severe hypoparathyroidism with symptomatic hypocalcaemia. Complications of treatment with calcitriol or alfacacidol include hypercalciuria, nephrocalcinosis and renal failure. The use of synthetic parathyroid hormone (PTH 1–34, teriparatide) provides a more physiological treatment option and reduces the risk of hypercalciuria. Intermittent injections of PTH have been used with some success but ...

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...

Our recent studies have localised 11 beta hydroxysteroid dehydrogenase type 1 (11 beta HSD1), which activates cortisol from cortisone, to the human ocular non-pigmented ciliary epithelium, and in an open blinded study conducted on healthy male volunteers, systemic inhibition of this isozyme with oral carbenoxolone (CBX) resulted in a 17% reduction of intraocular pressure (IOP). The aim of this study was to evaluate whether CBX reduced IOP in patients with ocular hypertension (...

Background: Thyrotoxic periodic paralysis (TPP) is a rare complication of thyrotoxicosis, characterized by recurrent hypokalemia, episodic muscle weakness and paralysis. It is potentially fatal in serious attacks with occurrence of life-threatening cardiopulmonary complications. Currently, lack of large cohorts comprising individuals with TPP history restrict the conduct of relevant epidemiology study.Methods: Clinical data from a population-wide electro...

Glycogen storage disease 1A (GSD1A) is an inherited metabolic disorder caused by glucose-6-phosphatase (G6PC) deficiency. Patients with GSD1A present disturbed glucose homeostasis and exhibit glycogen accumulation accompanied by hepatomegaly, hypoglycemia, lactic acidosis and hyperlipidemia. However, there are currently no licensed treatments for GSD1A, and human in vitro systems for disease modelling and drug screening are lacking. We aimed to develop a human hepatoc...

Sex steroids have complex effects: testosterone predominantly regulates trabecular and estradiol, cortical bone1. Studies in transgender individuals use insensitive technology and report conflicting effects2. We hypothesized estradiol therapy will increase cortical volumetric bone mineral density (vBMD) in male-to-female (MtF) individuals and testosterone therapy will increase trabecular vBMD in female-to-male (FtM) individuals.Aims...

Introduction: Disorders of plasma sodium are one of the commonest electrolyte abnormalities affecting acutely unwell patients. The North Middlesex is a busy district general hospital with a diverse population. We reviewed our hypernatraemic population to identify possible trends in age, demographics and outcomes.Methods: Through the biochemistry laboratory, we identified all patients with sodium level above 145 mmol/L who were acute inpatients or attende...

Introduction: Severe generalised recessive dystrophic epidermolysis bullosa (RDEB) is a rare disorder resulting from loss of function mutations in the type VII collagen gene (COL7A1). Although RDEB is characterised by severe trauma induced skin blistering and erosions, it is a multisystem disorder with low bone mass as one of the many complications.Objectives: We sought to describe the prevalence of low bone mass, vertebral fractures and scolios...

Osteoporosis and associated fractures are the most common and debilitating complication of glucocorticoid use. The use of alternative anti-inflammatory agents without the catabolic and deleterious skeletal side-effects of glucocorticoids is needed. Dehydroepiandrosterone (DHEA) may have immunomodulatory as well as positive effects on bone. To further our understanding of the mechanisms of action of DHEA, as a steroid-sparing agent, we investigated and compared the effects of D...

Background: Achondroplasia, the most common skeletal dysplasia, carries a highest risk of developing foramen magnum stenosis (FMS), particularly in young children, leading to cervicomedullary compression and potentially fatal outcomes. Early detection of spinal cord changes through routine MRI screening can help reducing the morbidity and mortality in this population. Considering recent evidence, the bone team at Evelina London Children’s Hospital impleme...