Article
The Endocrine Chameleon: Expanding the Phenotype of Pseudohypoparathyroidism 1A in Infancy.
Hormone research in paediatrics - 1 Jan 2026
Munteanu Martin, Resch Elisabeth, Bildheim Victor, Hoffjan Sabine, Erdlenbruch Bernhard, Linglart Agnès, Grasemann Corinna
Abstract excerpt
INTRODUCTION: Pseudohypoparathyroidism 1A (PHP1A) is the best-known representative of inactivating parathyroid hormone (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. Neonatal complications may indicate a more severe course of the...
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