Article
Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.
The Journal of clinical endocrinology and metabolism - 17 May 2022
Hawkes Colin P, Al Jubeh Jamal M, Li Dong, Tucker Susan E, Rajiyah Tara, Levine Michael A
Abstract excerpt
CONTEXT: Parathyroid hormone (PTH) gene mutations represent a rare cause of familial isolated hypoparathyroidism (FIH). These defects can cause hypoparathyroidism with increased or decreased serum levels of PTH through 1) impaired PTH synthesis; 2) induction of parathyroid cell apoptosis; or 3) secretion of bioinactive PTH molecules. Eight pathogenic mutations of this gene have been described previously....
Topics
- Child
- Cyclic AMP
- Humans
- Hypocalcemia
- Hypoparathyroidism
- Mutation
- Parathyroid Hormone
- Pseudohypoparathyroidism