PMID- 30536424
OWN - NLM
STAT- MEDLINE
DCOM- 20200407
LR  - 20230411
IS  - 1523-4681 (Electronic)
IS  - 0884-0431 (Print)
IS  - 0884-0431 (Linking)
VI  - 34
IP  - 1
DP  - 2019 Jan
TI  - Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical 
      Perspective.
PG  - 22-37
LID - 10.1002/jbmr.3650 [doi]
AB  - We review advancing and overlapping stages for our understanding of the 
      expressions of six hyperparathyroid (HPT) syndromes: multiple endocrine neoplasia 
      type 1 (MEN1) or type 4, multiple endocrine neoplasia type 2A (MEN2A), 
      hyperparathyroidism-jaw tumor syndrome, familial hypocalciuric hypercalcemia, 
      neonatal severe primary hyperparathyroidism, and familial isolated 
      hyperparathyroidism. During stage 1 (1903 to 1967), the introduction of robust 
      measurement of serum calcium was a milestone that uncovered hypercalcemia as the 
      first sign of dysfunction in many HPT subjects, and inheritability was reported 
      in each syndrome. The earliest reports of HPT syndromes were biased toward severe 
      or striking manifestations. During stage 2 (1959 to 1985), the early formulations 
      of a syndrome were improved. Radioimmunoassays (parathyroid hormone [PTH], 
      gastrin, insulin, prolactin, calcitonin) were breakthroughs. They could identify 
      a syndrome carrier, indicate an emerging tumor, characterize a tumor, or monitor 
      a tumor. During stage 3 (1981 to 2006), the assembly of many cases enabled 
      recognition of further details. For example, hormone non-secreting skin lesions 
      were discovered in MEN1 and MEN2A. During stage 4 (1985 to the present), new 
      genomic tools were a revolution for gene identification. Four principal genes 
      ("principal" implies mutated or deleted in 50% or more probands for its syndrome) 
      (MEN1, RET, CASR, CDC73) were identified for five syndromes. During stage 5 (1993 
      to the present), seven syndromal genes other than a principal gene were 
      identified (CDKN1B, CDKN2B, CDKN2C, CDKN1A, GNA11, AP2S1, GCM2). Identification 
      of AP2S1 and GCM2 became possible because of whole-exome sequencing. During 
      stages 4 and 5, the newly identified genes enabled many studies, including robust 
      assignment of the carriers and non-carriers of a mutation. Furthermore, molecular 
      pathways of RET and the calcium-sensing receptor were elaborated, thereby 
      facilitating developments in pharmacotherapy. Current findings hold the promise 
      that more genes for HPT syndromes will be identified and studied in the near 
      future. (c) 2018 American Society for Bone and Mineral Research.
CI  - (c) 2018 American Society for Bone and Mineral Research.
FAU - Marx, Stephen J
AU  - Marx SJ
AD  - Office of the Scientific Director, Eunice Kennedy Shriver National Institute of 
      Child Health and Human Development, National Institutes of Health, Bethesda, MD, 
      USA.
FAU - Goltzman, David
AU  - Goltzman D
AD  - Calcium Research Laboratory, Metabolic Disorders and Complications Program, 
      Research Institute of the McGill University Health Centre, Montreal, Canada.
LA  - eng
GR  - Z01 DK043006-31/ImNIH/Intramural NIH HHS/United States
GR  - CIHR/Canada
PT  - Historical Article
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20181210
PL  - England
TA  - J Bone Miner Res
JT  - Journal of bone and mineral research : the official journal of the American 
      Society for Bone and Mineral Research
JID - 8610640
RN  - 0 (Neoplasm Proteins)
SB  - IM
MH  - History, 20th Century
MH  - History, 21st Century
MH  - Humans
MH  - *Hyperparathyroidism/classification/genetics/history/metabolism
MH  - *Multiple Endocrine Neoplasia Type 1/classification/genetics/history/metabolism
MH  - *Multiple Endocrine Neoplasia Type 2a/classification/genetics/history/metabolism
MH  - *Neoplasm Proteins/genetics/metabolism
MH  - *Parathyroid Neoplasms/classification/genetics/history/metabolism
MH  - Syndrome
PMC - PMC6396287
MID - NIHMS1517527
OTO - NOTNLM
OT  - /KWD&gt
OT  - AP2S1
OT  - CASR
OT  - CDC73
OT  - CDKN1B
OT  - GCM2&lt
OT  - GNA11
OT  - MEN1
OT  - RET
EDAT- 2018/12/12 06:00
MHDA- 2020/04/09 06:00
PMCR- 2019/03/01
CRDT- 2018/12/12 06:00
PHST- 2018/10/16 00:00 [received]
PHST- 2018/11/14 00:00 [revised]
PHST- 2018/11/20 00:00 [accepted]
PHST- 2018/12/12 06:00 [pubmed]
PHST- 2020/04/09 06:00 [medline]
PHST- 2018/12/12 06:00 [entrez]
PHST- 2019/03/01 00:00 [pmc-release]
AID - 10.1002/jbmr.3650 [doi]
PST - ppublish
SO  - J Bone Miner Res. 2019 Jan;34(1):22-37. doi: 10.1002/jbmr.3650. Epub 2018 Dec 10.