hrp0097t1 | Section | ESPE2023

Molecular and clinical studies in 84 patients with pseudohypoparathyroidism type 1B.

Urakawa Tatsuki , Sano Shinichiro , Narusawa Hiromune , Kawashima Sayaka , Nakamura Akie , Matsubara Keiko , Dateki Sumito , Fukami Maki , Ogata Tsutomu , Kagami Masayo

Context: Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions (DMRs) on the GNAS locus can be categorized into groups according to etiologies and methylation defect patterns of the DMRs. However, there are no reports evaluating the clinical differences in detail, such as diagnostic features at onset and Albright’s hereditary osteodystrophy (AHO) features, among the groups.<stro...