Nicolas Jullien, Alexandru Saveanu, Julia Vergier, Emeline Marquant, Marie Helene Quentien, Frederic Castinetti, Noémie Galon-Faure, Raja Brauner, Zinet Marrakchi Turki, Maité Tauber, Mohamed El Kholy, Agnès Linglart, Patrice Rodien, Nora Soumeya Fedala, Ignacio Bergada, Christine Cortet-Rudelli, Michel Polak, Marc Nicolino, Chantal Stuckens, Anne Barlier, Thierry Brue, Rachel Reynaud
CONTEXT: The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism. AIMS: To describe main phenotype patterns and their evolution through life. DESIGN: Patients were screened according to their phenotype for coding sequence variations in 8 genes: HESX1, LHX3, LHX4, PROP1, POU1F1, TBX19, OTX2 and PROKR2. RESULTS: Among 1213 patients (1143 index cases), the age of diagnosis of hypopituitarism was congenital (24%), in childhood (28%), at puberty (32%), in adulthood (7...
February 2021: Clinical Endocrinology