ba0001pp129 | Calciotropic and phosphotropic hormones and mineral metabolism | ECTS2013
Tang J C Y
, Washbourne C J
, Galitzer H
, Hiemstra T
, Meek C
, Chipchase A
, Fraser W D
Background: Pseudohypoparathyroidism (PHP) is a group of heterogeneous endocrine disorders characterised by hormone resistance, primarily to parathyroid hormone (PTH). The resistance is caused by defects in the GNAS gene, which encodes the GsĪ± protein that activates the cAMP pathway. PHP patients demonstrate elevated plasma PTH, hypocalcaemia, hyperphosphataemia with normal renal function. PTH resistance can be confirmed by Ellsworth-Howard test (PTH s...