hrp0098p3-153 | Growth and Syndromes | ESPE2024

A case of Albright Hereditary Osteodystrophy (AHO)- Journey to diagnosis.

Dakhlia Ines , Matei Cristina , Willemsen Ruben

Background: Albright hereditary osteodystrophy (AHO) is a rare constellation of dysmorphic physical features such as short stocky build, round face, cutaneous ossification, and metacarpophalangeal abnormalities as well as pseudohypoparathyroidism (PHP) with variable hypocalcemia, and hyperphosphatemia. This hereditary metabolic disorder is caused by a mutation in the GNAS1 gene in the q13.11 region of chromosome 20.Case Report:</...