Endocrine Abstracts

A 24-year-old Pakistani woman presented one day after returning from a 6-week holiday in Pakistan with a 3-day history of generalised weakness, difficulty in walking and left flank pain. She was known to have mixed connective tissue disease (MCTD). Clinically she was pyrexial and had generalised muscular weakness (power 3/5), and hypotonia. Biochemically, she was found to have hypokalaemia (1.8 mmol/l), raised serum urea (8.1 mmol/l), and creatinine (160 μmol/l), high ESR...

Type 1B pseudohypoparathyroidism is characterised by renal resistance to parathyroid hormone in the absence of other endocrine or physical abnormalities. We present a 36-year-old lady with pseudohypoparathyroidism diagnosed aged seven following seizures with hypocalcaemia, hyperphosphataemia, elevated alkaline phosphatase, elevated parathyroid hormone (PTH) at 700 pg/mL (<120) and no cyclic AMP response to bovine PTH. There was no family history or diagnostic phenotypic fe...