Neonatal and early infancy features of patients with inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism.
Giulia Del SindacoJugurtha BerkenouAngela PagnanoAnya RothenbuhlerArosio MauraMantovani GiovannaAgnès LinglartPublished in: The Journal of clinical endocrinology and metabolism (2023)
Our findings suggest that iPPSD/PHP and especially iPPSD2/PHP1A newborns require specific care at birth, because of an increased risk of neonatal complications. These complications may predict a more severe course of the disease, however they are unspecific which likely explains the diagnostic delay.