hrp0084p3-672 | Bone | ESPE2015

Pseudohypoparathyroidism: Clinical Heterogeneity Illustrated by Three Different Cases

Lemay Annelies , den Brinker Marieke , Dotremont Hilde , Ceulemans Berten , France Annick

Background: Pseudohypoparathyroidism represents a group of clinical and molecular heterogeneous disorders, characterized by functional hypoparathyroidism, caused by end-organ resistance to the action of PTH. Pseudohypoparathyroidism manifests as hypocalcemia, hyperphosphatemia and elevated plasma levels of PTH. A combination of features, also known as Albright osteodystrophy including disproportionate short stature, obesity, dysmorphia, may co-exist.Case...