Endocrine Abstracts

A 54-year-old female presented to her GP with a 9-year history of poorly controlled hypertension (requiring five drugs) and type 2 diabetes mellitus, associated with central weight gain, low mood and poor wound healing. On examination she had clinical evidence of glucocorticoid excess. Cushing’s syndrome was confirmed on low dose dexamethasone suppression testing (2+0 cortisol 857 nmol/l, 2+48 cortisol 346 nmol/l). Cushing’s day curve demonstrated loss of circadian r...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor expressed in the parathyroid gland and kidneys. Loss of function mutations of the CaSR result in familial hypocalciuric hypercalcaemia (FHH). Rarer, gain of function mutations of the CaSR result in hypercalciuric hypocalcaemia and are inherited in an autosomal dominant pattern. The phenotype varies from asymptomatic individuals, to profound hypocalcaemia. We present a severely affected individual whose case hi...