Endocrine Abstracts

Severe hyperthyroidism, along with several other endocrinopathies, is well recognised as a cause of myopathy. This myopathic clinical picture varies from mild myasthenia to profound muscular weakness. We present the case of a 61 year old female (Ms SM), with learning difficulties, who presented with a short history of reduced mobility and anorexia. She was noted to have hypernatraemia and acute kidney injury on admission, secondary to poor oral intake and new ons...

Severe hyperthyroidism, along with several other endocrinopathies, is well recognised as a cause of myopathy. This myopathic clinical picture varies from mild myasthenia to profound muscular weakness. We present the case of a 61 year old female (Ms SM), with learning difficulties, who presented with a short history of reduced mobility and anorexia. She was noted to have hypernatraemia and acute kidney injury on admission, secondary to poor oral intake and new ons...

Section 1: Case history: We present the case of a 21-year-old lady known to harbour a homozygous inactivating mutation of the calcium sensing receptor (CaSR) which led to uncontrolled hypercalcaemia in infancy, necessitating emergency total parathyroidectomy. The CaSR plays an important role in calcium homeostasis. Inactivating mutations result in a higher calcium “set-point” and various degrees of hypercalcaemia based on the severity of functional impairment. In the...