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Article

A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism.

Hormones (Athens, Greece) - 1 Oct 2016

Papadakis Marios, Meurer Natalie, Margariti Theodora, Meyer Anke, Weyerbrock Norbert, Dotzenrath Cornelia

Abstract excerpt

OBJECTIVE: The coexistence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism (PHPT) is extremely rare. Genetic evidence has demonstrated a causal relationship between FHH and the presence of inactivating mutations in the calcium-sensing receptor gene. METHOD: We herein report a 60-year-old German patient who was referred for hypercalcemia and increased PTH levels found incidentally...

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Identifiers

PMID: 28222409
DOI: 10.14310/horm.2002.1711

Genes

PTH

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