PHPT

primary hyperparathyroidism(English)

  • although the vast majority of cases are sporadic, familial forms represent some 2–5% of cases and are caused by germline DNA mutations. Familial syndromes, including MEN1, MEN2A and HPT-JT, are associated with a spectrum of endocrine and nonendocrine neoplasms of varying malignant potential. Some of these familial endocrine neoplasms demonstrate clinical characteristics and disease courses that are distinct relative to their sporadic counterparts. Knowledge of the unique features and natural history of tumors associated with these familial syndromes not only facilitate diagnosis but also help to establish individualized management
  • MEN2A, DNA, HPT-JT, MEN-I
  • Thyroid and parathyroid, Endocrinology
  • https://doi.org…7/ije-2016-0018