Anne-Sophie Lambert, Virginie Grybek, Bruno Francou, Laure Esterle, Guylène Bertrand, Jérôme Bouligand, Anne Guiochon-Mantel, Sylvie Hieronimus, Dorit Voitel, Sylvie Soskin, Corinne Magdelaine, Anne Lienhardt, Caroline Silve, Agnès Linglart
BACKGROUND: Except after neck surgery, hypoparathyroidism is a rare disease caused by defects in genes involved in parathyroid gland development (TBX1/22q11.2 del, GCMB, GATA3, TBCE) or function [calcium sensing receptor (CASR), GNA11, PTH], or the autoimmune polyglandular syndrome type 1 (AIRE). Approximately 90% of sporadic cases and 30% of familial cases of isolated hypoparathyroidism remain unexplained. Recurrent missense mutations in AP2S1, a calcium-sensing receptor regulator, have been recently identified in familial hyperparathyroidism...
March 2014: Journal of Clinical Endocrinology and Metabolism