ALBRIGHT HEREDITARY OSTEODYSTROPHY

Course overview

ALBRIGHT HEREDITARY OSTEODYSTROPHY (AHO) IS A HEREDITARY CONDITION DUE TO INACTIVATING GNAS1 GENE MUTATION. AHO IS CHARACTERIZED BY A ROUND FACE, SHORT STATURE WITH A STOCKY HABITUS, BRACHYDACTYLY, SUBCUTANEOUS OSSIFICATION, AND DENTAL ANOMALIES. AHO MAY BE ASSOCIATED WITH HORMONAL RESISTANCE IN PATIENTS WITH PSEUDOHYPOPARATHYROIDISM TYPE 1A AND 1C AND IS OFTEN THE FIRST CLUE FOR THEIR DIAGNOSIS. IN ADDITION, ONE OR MORE FEATURES OF THE AHO PHENOTYPE MAY BE PRESENT IN OTHER DISORDERS WHICH SHOULD BE DISTINGUISHED FROM AHO. IN ADDITION TO DISCUSSING THE ETIOPATHOGENESIS, DIAGNOSIS, AND MANAGEMENT OF AHO, THE ACTIVITY REVIEWS THE DISORDERS THAT CLOSELY MIMIC AHO AND THE UNIQUE FEATURES THAT DISTINGUISH THEM FROM AHO.