Pseudohypoparathyroidism causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]

Overview

Pseudohypoparathyroidism is caused by mutations involving primarily the GNAS gene that results in end organ resistance to parathyroid hormone.

Causes

Pseudohypoparathyroidism is caused by mutations that result in end-organ resistance to parathyroid hormone like:^[1]
- Heterozygous GNAS inactivating mutations that reduce expression or function of Gαs
- Familial-heterozygous deletions in STX16, NESP55, and/or AS exons or loss of methylation at GNAS
- Sporadic-paternal uniparental disomy of chromosome 20q in some or methylation defect affecting all four GNAS genes
- Combination of inactivating mutations of GNAS1 and Albright’s osteodystrophy
For a complete review of genes involved in pseudohypoparathyroidism and associated parathyroid hormone, resistance click here

References

Overview