Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation
High PTH in the presence of congenital hypocalcemia is not always due to receptor or post-receptor defect and can be due to a biologically inactive mutated PTH. In such cases, treatment with teriparatide may result in stabilization of biochemical profile and improvement in quality of life.
Authors
- Meshael Alswailem
- Noha Mukhtar
- Afaf Alsagheir (ORCID: https://orcid.org/0000-0002-1844-4377)
- Balgees Alghamdi
- Ali Alzahrani (ORCID: https://orcid.org/0000-0001-9501-8331)
Institutions
- King Faisal Specialist Hospital & Research Centre (SA)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2024-10-07
- DOI
- https://doi.org/10.3389/fendo.2024.1415639
- Citations
- 1
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.55