Beyond the textbook phenotype: Debunking myths in pseudohypoparathyroidism
Background: Pseudohypoparathyroidism type 1A (PHP1A), now classified within the spectrum of inactivating PTH/PTHrP signaling disorders (iPPSD), is often recognized by the stereotypical Albright hereditary osteodystrophy (AHO) phenotype and parathyroid hormone (PTH) resistance. However, subtle or atypical phenotypic exp...