Albright's hereditary osteodystrophy (AHO)

Introduction

Clinical presentation of most patients with pseudohypopara- thyroidism.

Pathology

• expression or the activity of GNAS is diminished

Genetics

• autosomal dominant
• associated with defects in GNAS

Clinical manifestations

• short stature
• round face
• skeletal anomalies -> brachydactyly
• heterotopic subcutaneous calcification

Laboratory

• serum calcium: hypocalcemia
• elevated serum phosphate
• elevated serum PTH

Management

• see pseudohypoparathyroidism

More general terms

• osteodystrophy
• genetic disease of bone/skeletal system

Additional terms

• pseudohypoparathyroidism

Database

• OMIM: https://mirror.omim.org/entry/103580