Clinical and Molecular Characteristics and Long-term Follow-up of Children with Pseudohypoparathyroidism Type IA.
Hanna LudarYael Levy-ShragaOsnat AdmoniHussein MajdoubKineret Mazor AronovitchIlana KorenShoshana RathGhadir Elias-AssadShlomo AlmashanuMantovani GiovannaOrit Pinhas HamielYardena Tenenbaum-RakoverPublished in: The Journal of clinical endocrinology and metabolism (2023)
Long-term follow-up of newborns with a combination of congenital hypothyroidism, early onset obesity, and minor dysmorphic features associated with PHPIA is warranted and molecular analysis is recommended since the complete clinical phenotype may develop a long time after initial presentation.