Endocrine Abstracts

A 22-year-old woman with hypophosphataemic rickets was diagnosed at age four when she presented with short stature and valgus deformity of the lower limbs. Biochemical testing, genetic screening and radiological investigation of her family showed no abnormality and it was concluded that she had a de novo mutation.She was treated with 1α-calcidol and phosphate Sandoz with regularly monitored biochemistry. She had poor adherence to her medicati...