PMID- 30641519
OWN - NLM
STAT- MEDLINE
DCOM- 20190426
LR  - 20190426
IS  - 1662-3762 (Electronic)
IS  - 0301-3073 (Linking)
VI  - 51
DP  - 2019
TI  - Familial and Hereditary Forms of Primary Hyperparathyroidism.
PG  - 40-51
LID - 10.1159/000491037 [doi]
AB  - Individuals with a familial predisposition to the development of parathyroid 
      tumors constitute a small minority of all patients with primary 
      hyperparathyroidism (PHPT). These familial syndromes exhibit Mendelian 
      inheritance patterns and the main causative genes in most families have been 
      identified. They include multiple endocrine neoplasia (MEN; types 1, 2A, and 4), 
      hyperparathyroidism-jaw tumor (HPT-JT) syndrome, familial isolated 
      hyperparathyroidism, familial hypocalciuric hypercalcemia (FHH), and neonatal 
      severe PHPT. Each MEN type is associated with the various combinations of 
      specific tumors. MEN1 is characterized by the occurrence of parathyroid, 
      enteropancreatic, and pituitary tumors; MEN2A is characterized by medullary 
      thyroid carcinoma and pheochromocytoma, and MEN4 is characterized by a 
      pathological spectrum similar to that of MEN1 in association with tumors of the 
      adrenal, kidney, and reproductive organs. HPT-JT is characterized by PHPT, 
      ossifying fibromas of maxillary bones, kidney disease, and uterine neoplasias. 
      The prompt diagnosis of these diseases is of great importance for planning 
      appropriate surveillance of the mutant carriers and correct surgical management. 
      The search for mutation is also useful for the identification of the family 
      members who do not carry the mutation and can avoid unnecessary biochemical and 
      instrumental evaluations. Surgery remains the treatment of choice in all familial 
      forms except FHH.
CI  - (c) 2019 S. Karger AG, Basel.
FAU - Cetani, F
AU  - Cetani F
FAU - Saponaro, F
AU  - Saponaro F
FAU - Borsari, S
AU  - Borsari S
FAU - Marcocci, C
AU  - Marcocci C
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20181119
PL  - Switzerland
TA  - Front Horm Res
JT  - Frontiers of hormone research
JID - 0320246
SB  - IM
MH  - Humans
MH  - Hyperparathyroidism, Primary/*diagnosis/*genetics
MH  - Multiple Endocrine Neoplasia/*diagnosis/*genetics
EDAT- 2019/01/15 06:00
MHDA- 2019/04/27 06:00
CRDT- 2019/01/15 06:00
PHST- 2019/01/15 06:00 [entrez]
PHST- 2019/01/15 06:00 [pubmed]
PHST- 2019/04/27 06:00 [medline]
AID - 000491037 [pii]
AID - 10.1159/000491037 [doi]
PST - ppublish
SO  - Front Horm Res. 2019;51:40-51. doi: 10.1159/000491037. Epub 2018 Nov 19.