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Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation.

Frontiers in endocrinology - 1 Jan 2024

Mukhtar Noha, Alghamdi Balgees, Alswailem Meshael, Alsagheir Afaf, Alzahrani Ali S

Abstract excerpt

Introduction: So far, only 11 PTH mutations have been described as causes of familial isolated hypoparathyroidism (FIH). In this report, we describe a family with FIH but with significant elevation of functionally inactive PTH due to a PTH mutation. We also show a positive therapeutic outcome of recombinant human PTH (teriparatide) therapy in one of the siblings who was not well controlled on large doses of...

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Identifiers

PMID: 39435356
DOI: 10.3389/fendo.2024.1415639
PMCID: PMC11491329

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