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Hormones

, Volume 12, Issue 3, pp 454–460 | Cite as

Familial isolated primary hyperparathyroidism due to HRPT2 mutation

  • Adina Ghemigian
  • Mircea Ghemigian
  • Irina Popescu
  • Lavinia Vija
  • Eugenia Petrova
  • Nicoleta Dumitru
  • Dumitru Ioachim
Case report

Abstract

Primary hyperparathyroidism is a common endocrine disorder that is mostly caused by solitary tumors within the parathyroid glands. Characterized by early debut and higher frequency of multiple parathyroid masses, familial forms of primary hyperparathyroidism are caused by the already known mutations of: menin (MEN1 syndrome), RET proto-oncogene (MEN2 syndrome), HRPT2-parafibromin (hyperparathyroidism-jaw tumor syndrome), calcium sensing receptor gene (familial hypocalciuric hypercalcemia). A specific mutation in FIHP has not been identified in the majority of affected families. Recent studies revealed menin, HRPT2 and calcium-sensing receptor mutations in patients with FIHP. Whether FIHP is a variant or an early stage of MEN1 syndrome or hyperparathyroidism-jaw tumor syndrome is yet to be established. We present three siblings with familial isolated hyperparathyroidism due to solitary parathyroid adenoma and favorable evolution post-parathyroidectomy. Genetic tests revealed HRPT2 mutation.

Key words

Familial isolated hyperparathyroidism HPT-JT HRPT2 

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Copyright information

© Hellenic Endocrine Society 2013

Authors and Affiliations

  • Adina Ghemigian
    • 1
    • 2
  • Mircea Ghemigian
    • 1
  • Irina Popescu
    • 1
  • Lavinia Vija
    • 2
  • Eugenia Petrova
    • 2
  • Nicoleta Dumitru
    • 1
  • Dumitru Ioachim
    • 1
  1. 1.“G.I. Parhon” National Institute of EndocrinologyBucharestRomania
  2. 2.“Carol Davila” University of Medicine and PharmacyBucharestRomania

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