Ontology highlight
ABSTRACT:
SUBMITTER: Molinaro A
PROVIDER: S-EPMC4401615 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Molinaro Angelo A Tiosano Dov D Takatani Rieko R Chrysis Dionisios D Russell William W Koscielniak Nikolas N Kottler Marie-Laure ML Agretti Patrizia P De Marco Giuseppina G Ahtiainen Petteri P Christov Marta M Mäkitie Outi O Tonacchera Massimo M Jüppner Harald H
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 20150501 5
Hypocalcemia and hyperphosphatemia because of resistance toward parathyroid hormone (PTH) in the proximal renal tubules are the most prominent abnormalities in patients affected by pseudohypoparathyroidism type Ib (PHP-Ib). In this rare disorder, which is caused by GNAS methylation changes, resistance can occur toward other hormones, such as thyroid-stimulating hormone (TSH), that mediate their actions through G protein-coupled receptors. However, these additional laboratory abnormalities are us ...[more]