Endocrine Abstracts

Pseudohypoparathyroidism-1b (PHP-1b) is a genetically and biochemically distinct disorder characterised by selective PTH resistance limited to the kidney and lack of Albright Hereditary Osteodystrophy (AHO). Due to calcium mobilization from bone, patients with PHP-1b may remain asymptomatic and undiagnosed for a long time. Coexistent vitamin D deficiency sometime unmasks the clinical presentation of the disease.A 15-year-old Kuwaiti male presented with s...

Introduction: The biochemical diagnosis of hypophosphataemic rickets relies on measurement of tubular phosphate reabsorption. However, as the renal tubules are immature at birth and the reference range for urine phosphate excretion is not well defined in young children, there is uncertainty about how early in life a biochemical diagnosis of phosphate wasting can be made. In addition, the benefit of early treatment of hypophosphataemic rickets is unclear.<p class="ab...