The Endocrine Chameleon: Expanding the phenotype of Pseudohypoparathyroidism 1A in infancy.

Introduction: Pseudohypoparathyroidism 1A (PHP1A) is the best-known representative of inactivating PTH/PTHrP signaling disorders (iPPSD). The associated phenotype develops over time and often includes hormonal resistances, short stature and osteoma cutis. More complex and very early manifestations have also been reported.