Article
Mild progressive osseous heteroplasia overlap syndrome with PTH and TSH resistance appearing during adolescence and not early childhood.
Endocrine - 1 Dec 2021
Ozaki Kayo, Mituboshi Akari, Nagai Masashi, Nishiyama Atushi, Nishimura Gen, Morisada Naoya, Iijima Kazumoto
Abstract excerpt
PURPOSE: Progressive osseous heteroplasia (POH), a genetic disorder, is associated with Albright's hereditary osteodystrophy (AHO), pseudohypoparathyroidism, and primary osteoma cutis and has common features of superficial ossification and GNAS-inactivating mutations. Disorders due to GNAS-inactivating mutations are classified as "inactivating parathyroid hormone (PTH)/PTHrP signaling disorder type 2." This study...
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