Giovanna Mantovani, Murat Bastepe, David Monk, Luisa de Sanctis, Susanne Thiele, Alessia Usardi, S Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo De Filippo, Guillemette Devernois, Thomas Eggermann, Francesca M Elli, Kathleen Freson, Aurora García Ramirez, Emily L Germain-Lee, Lionel Groussin, Neveen Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Marie-Laure Kottler, Elvire Le Norcy, Beatriz Lecumberri, Michael A Levine, Outi Mäkitie, Regina Martin, Gabriel Ángel Martos-Moreno, Masanori Minagawa, Philip Murray, Arrate Pereda, Robert Pignolo, Lars Rejnmark, Rebecca Rodado, Anya Rothenbuhler, Vrinda Saraff, Ashley H Shoemaker, Eileen M Shore, Caroline Silve, Serap Turan, Philip Woods, M Carola Zillikens, Guiomar Perez de Nanclares, Agnès Linglart
This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types...
August 2018: Nature Reviews. Endocrinology