Genetic aspects underlying the normocalcemic and hypercalcemic phenotypes of primary hyperparathyroidism.

ABSTRACT:

Purpose

Hypercalcemic primary hyperparathyroidism (PHPT) is a common endocrine disorder that has been very well characterized. In contrast, many aspects of normocalcemic primary hyperparathyroidism (NPHPT) such as natural history, organ damage, and management are still matter of debate. In addition, both the pathophysiology and molecular basis of NPHPT are unclear. We investigated whether PHPT and NPHPT patient cohorts share the same pattern of genetic variation in genes known to be involved in calcium and/or bone metabolism.

Research design and methods

Genotyping for 9 single nucleotide polymorphisms (SNPs) was performed by Real-Time PCR (TaqMan assays) on 27 NPHPT and 31 PHPT patients evaluated in a tertiary referral Center. The data of both groups were compared with 54 in

SUBMITTER: Viviani A 

PROVIDER: S-EPMC10618301 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature