PMID- 30848815
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230412
IS  - 1945-7197 (Electronic)
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 104
IP  - 9
DP  - 2019 Sep 1
TI  - New Concepts About Familial Isolated Hyperparathyroidism.
PG  - 4058-4066
LID - 10.1210/jc.2018-02789 [doi]
AB  - CONTEXT: Familial isolated hyperparathyroidism (FIHP) is defined as familial 
      primary hyperparathyroidism (FH) without a characteristic extraparathyroidal 
      feature of a more complex hyperparathyroid syndrome. New concepts of FIHP have 
      been developed within this definition. FIHP has been difficult to study due to 
      small kindreds and mildly symptomatic cases. EVIDENCE ACQUISITION: Searches were 
      through PubMed for FIHP, other FH syndromes, and the gene(s) mutated in each. 
      EVIDENCE SYNTHESIS: Within its definition, the current concept of FIHP has 
      clinical and mutational components that can include incomplete expressions of 
      multiple endocrine neoplasia type 1 (MEN1) familial hypocalciuric hypercalcemia, 
      hyperparathyroidism-jaw tumor syndromes, or their mutations. Newest concepts of 
      FIHP focus on kindreds without mutation of the MEN1, CASR, or CDC73 genes; 17% 
      have germline activating mutation of the gene for the GCM2 transcription factor. 
      The FIHP kindreds with or without GCM2 mutation contain a median of only two 
      cases of primary hyperparathyroidism. The small kindred size in both subgroups of 
      FIHP is probably caused by a low rate of screening among relatives. Persons with 
      FIHP and GCM2 mutation present as adults with mild hypercalcemia and multiple 
      parathyroid tumors. CONCLUSION: The current concept of FIHP led to a focus on 
      small kindreds without mutation of MEN1, CASR, or CDC73. These assisted in 
      identifying germline activating GCM2 mutations in 17% of kindreds. Clinical and 
      mutational characterization in more cases is needed to determine if there are any 
      unique clinical features of FIHP, with or without mutation of GCM2.
CI  - Published by Oxford University Press on behalf of the Endocrine Society 2019.
FAU - Marx, Stephen J
AU  - Marx SJ
AUID- ORCID: 0000-0001-9317-332X
AD  - Eunice Kennedy Shriver National Institute of Child Health and Human Development, 
      National Institutes of Health, Bethesda, Maryland.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
SB  - IM
PMC - PMC6684304
EDAT- 2019/03/09 06:00
MHDA- 2019/03/09 06:01
PMCR- 2019/03/08
CRDT- 2019/03/09 06:00
PHST- 2018/12/27 00:00 [received]
PHST- 2019/03/01 00:00 [accepted]
PHST- 2019/03/09 06:01 [medline]
PHST- 2019/03/09 06:00 [pubmed]
PHST- 2019/03/09 06:00 [entrez]
PHST- 2019/03/08 00:00 [pmc-release]
AID - 5371251 [pii]
AID - jcem_201802789 [pii]
AID - 10.1210/jc.2018-02789 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2019 Sep 1;104(9):4058-4066. doi: 10.1210/jc.2018-02789.