PMID- 29136674
OWN - NLM
STAT- MEDLINE
DCOM- 20180622
LR  - 20210503
IS  - 1439-4286 (Electronic)
IS  - 0018-5043 (Linking)
VI  - 49
IP  - 11
DP  - 2017 Nov
TI  - Familial Hyperparathyroidism - Disorders of Growth and Secretion in 
      Hormone-Secretory Tissue.
PG  - 805-815
LID - 10.1055/s-0043-120670 [doi]
AB  - Six syndromes of familial hyperparathyroidism are compared: 1) Familial 
      hypocalciuric hypercalcemia (FHH) expresses primary hyperparathyroidism (PHPT) 
      beginning at birth with lifelong hypercalcemia. There is nonsuppressed PTH 
      secretion from outwardly normal parathyroid glands. It reflects germline 
      heterozygous mutation in CASR, GNA11, or AP2S1. 2) Neonatal severe primary 
      hyperparathyroidism is severest of the six syndromes. It requires urgent total 
      parathyroidectomy in infancy. It usually reflects biallelic inactivation of the 
      CASR. 3) Multiple endocrine neoplasia type 1 (MEN1) is most frequently expressed 
      as PHPT with asymmetric enlargement of 3-4 parathyroids. Benign or malignant 
      tumors may occur among 30 other tissues. It is predisposed by germline 
      inactivation of MEN1 or rarely by inactivation of a cyclin dependent kinase 
      inhibitor, and then termed MEN4. 4) Multiple endocrine neoplasia type 2A from RET 
      activating mutation rarely presents as familial hyperparathyroidism, because 
      medullary thyroid cancer and pheochromocytoma are more prominent. 5) 
      Hyperparathyroidism-jaw tumor syndrome (HPT-JT) has frequent PHPT and benign jaw 
      tumors. Twenty percent develop parathyroid cancer. It is predisposed by 
      inactivating mutation in CDC73. 6) Familial isolated hyperparathyroidism causes 
      multiple parathyroid tumors. It can be an incomplete expression of FHH, MEN1, 
      HPT-JT or even of relatives without a shared driver mutation. However, in 20% of 
      families it reflects GCM2 activating mutation. Five of the PHPT syndromes reflect 
      overgrowth of parathyroid tissue; in contrast, familial hypocalciuric 
      hypercalcemia reflects dysregulation of PTH secretion with little or no 
      parathyroid overgrowth. These differences underlie major differences in clinical 
      expression.
CI  - (c) Georg Thieme Verlag KG Stuttgart . New York.
FAU - Marx, Stephen J
AU  - Marx SJ
AD  - Eunice Kennedy Shriver National Institute of Child Health and Human Development, 
      NIH, Bethesda, MD, USA.
AD  - Hospital das Clinicas, University of Sao Paulo School of Medicine Sao Paulo, Sao 
      Paulo, Brazil.
FAU - Lourenco, Delmar Muniz Jr
AU  - Lourenco DM Jr
AD  - Hospital das Clinicas, University of Sao Paulo School of Medicine Sao Paulo, Sao 
      Paulo, Brazil.
AD  - Institute of Cancer of the State of Sao Paulo, University of Sao Paulo School of 
      Medicine Sao Paulo, Sao Paulo, Brazil.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20171114
PL  - Germany
TA  - Horm Metab Res
JT  - Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et 
      metabolisme
JID - 0177722
RN  - 0 (Parathyroid Hormone)
SB  - IM
EIN - Horm Metab Res. 2017 Nov;49(11):e4. PMID: 29879737
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Hyperparathyroidism, Primary/diagnosis/genetics/*pathology
MH  - Mutation/genetics
MH  - Parathyroid Glands/pathology
MH  - Parathyroid Hormone/metabolism
COIS- Conflict of interest: The authors declare that they have no conflict of interest.
EDAT- 2017/11/15 06:00
MHDA- 2018/06/23 06:00
CRDT- 2017/11/15 06:00
PHST- 2017/11/15 06:00 [entrez]
PHST- 2017/11/15 06:00 [pubmed]
PHST- 2018/06/23 06:00 [medline]
AID - 10.1055/s-0043-120670 [doi]
PST - ppublish
SO  - Horm Metab Res. 2017 Nov;49(11):805-815. doi: 10.1055/s-0043-120670. Epub 2017 
      Nov 14.