, Volume 15, Issue 4, pp 557–559 | Cite as

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

  • Marios PapadakisEmail author
  • Natalie Meurer
  • Theodora Margariti
  • Anke Meyer
  • Norbert Weyerbrock
  • Cornelia Dotzenrath
Case report



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.


We herein report a 60-year-old German patient who was referred for hypercalcemia and increased PTH levels found incidentally during normal routine blood tests.


The patient underwent surgical exploration and the diagnosis of PHPT was histologically confirmed. One week later, the follow-up blood tests revealed recurrent hypercalcemia, and the possibility of FHH was reconsidered. Genetic analysis was performed and revealed a novel heterozygous CaSR single missense mutation (Arg551Gly) within the extracellular CaSR domain.


We report a novel heterozygous missense inactivating mutation within the extracellular CaSR domain in a German subject with FHH and histologically proven PHPT.

Key words

Calcium-sensing receptor Familial hypocalciuric hypercalcemia Missense mutation Primary hyperparathyroidism 


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Copyright information

© Hellenic Endocrine Society 2016

Authors and Affiliations

  • Marios Papadakis
    • 1
    • 2
    Email author
  • Natalie Meurer
    • 1
  • Theodora Margariti
    • 1
  • Anke Meyer
    • 1
  • Norbert Weyerbrock
    • 1
  • Cornelia Dotzenrath
    • 1
  1. 1.Department of Endocrine Surgery, Helios ClinicUniversity Hospital Witten-HerdeckeWuppertalGermany
  2. 2.Department of Plastic and Hand SurgeryHelios Clinic, University Hospital Witten-HerdeckeWuppertalGermany

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