Fahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family

Abstract

Abstract Pseudohypoparathyroidism (PHP) indicates a rare heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biologic activity of PTH. One of its most common types is PHP‐1a. In this report, we present a familial PHP‐1a and a novel mutation of the GNAS gene.

Keywords

• Albright's hereditary osteodystrophy
• Fahr syndrome
• GNAS mutation
• molecular analysis
• pseudohypoparathyroidism