PMID- 35262299
OWN - NLM
STAT- MEDLINE
DCOM- 20220331
LR  - 20231106
IS  - 2308-1430 (Electronic)
IS  - 0375-9660 (Print)
IS  - 0375-9660 (Linking)
VI  - 68
IP  - 1
DP  - 2022 Feb 18
TI  - [Severe bone complications of primary hyperparathyroidism in a young patient with 
      the rare verified mutation of MEN1].
PG  - 81-93
LID - 10.14341/probl12864 [doi]
AB  - Multiple endocrine neoplasia type 1 syndrome (MEN1) is a rare inherited disorder 
      that can include combinations of more than 20 endocrine and non-endocrine tumors. 
      Unfortunately, none of the described MEN1 mutations has been associated with a 
      peculiar clinical phenotype, even within members of the same family, thus a 
      genotype-to-phenotype correlation does not exist. MEN1 syndrome is the most 
      common cause of hereditary primary hyperparathyroidism (PHPT), the disease 
      penetrance of which exceeds 50% by the age of 20 and reaches 95% by the age of 
      40. At the same time, PHPT with hyperplasia or adenomas of the parathyroid glands 
      (PTG) is the most distinctive manifestation of the MEN1 syndrome. One of the main 
      symptoms of PHPT, both in sporadic and hereditary forms of the disease, is bone 
      damage. At the time of diagnosis in PHPT/MEN1, the bone mineral density is 
      generally lower in comparison with the sporadic form of PHPT. This may be due to 
      excessive secretion of parathyroid hormone during the period of peak bone mass, 
      concomitant components of the syndrome, extended surgical treatment, and the 
      direct effect of a mutation in the menin gene on bone remodeling. This clinical 
      case describes a young patient with severe bone complications of PHPT and 
      uncertain rare MEN1 mutation. PHPT was diagnosed five years later from the first 
      onset of bone complications and repeated orthopedic operations. There was the 
      <<hungry bones>> syndrome after successful surgery of PHPT, which was managed with 
      vitamin D and calcium carbonate supplementation and there is a positive dynamic 
      in increased bone mineral density in the main skeleton after 6 months.
FAU - Eremkina, A K
AU  - Eremkina AK
AD  - Endocrinology Research Centre.
FAU - Sazonova, D V
AU  - Sazonova DV
AD  - Endocrinology Research Centre.
FAU - Bibik, E E
AU  - Bibik EE
AD  - Endocrinology Research Centre.
FAU - Sheikhova, A Z
AU  - Sheikhova AZ
AD  - Endocrinology Research Centre.
FAU - Khairieva, A V
AU  - Khairieva AV
AD  - Endocrinology Research Centre.
FAU - Buklemishev, Yu V
AU  - Buklemishev YV
AD  - National Medical Research Center for Traumatology and Orthopedics named after 
      N.N. Priorov.
FAU - Mokrysheva, N G
AU  - Mokrysheva NG
AD  - Endocrinology Research Centre.
LA  - rus
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20220218
PL  - Russia (Federation)
TA  - Probl Endokrinol (Mosk)
JT  - Problemy endokrinologii
JID - 0140673
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Humans
MH  - *Hyperparathyroidism, Primary/complications/genetics
MH  - Hyperplasia
MH  - *Multiple Endocrine Neoplasia Type 1/complications/genetics/pathology
MH  - Mutation
MH  - Parathyroid Glands
MH  - Proto-Oncogene Proteins/genetics
PMC - PMC9761876
EDAT- 2022/03/10 06:00
MHDA- 2022/04/01 06:00
PMCR- 2022/02/18
CRDT- 2022/03/09 08:47
PHST- 2022/01/12 00:00 [received]
PHST- 2022/02/18 00:00 [accepted]
PHST- 2022/02/13 00:00 [revised]
PHST- 2022/03/09 08:47 [entrez]
PHST- 2022/03/10 06:00 [pubmed]
PHST- 2022/04/01 06:00 [medline]
PHST- 2022/02/18 00:00 [pmc-release]
AID - 10.14341/probl12864 [doi]
PST - epublish
SO  - Probl Endokrinol (Mosk). 2022 Feb 18;68(1):81-93. doi: 10.14341/probl12864.