PMID- 24452869
OWN - NLM
STAT- MEDLINE
DCOM- 20150608
LR  - 20211021
IS  - 1559-0100 (Electronic)
IS  - 1355-008X (Linking)
VI  - 47
IP  - 1
DP  - 2014 Sep
TI  - Familial Cushing syndrome due to thymic carcinoids in a multiple endocrine 
      neoplasia type 1 kindred.
PG  - 183-90
LID - 10.1007/s12020-013-0141-6 [doi]
AB  - The objective of this study is to present a familial Cushing syndrome (CS) caused 
      by multiple endocrine neoplasia type 1 (MEN-1)-associated thymic carcinoid. 
      Immunohistochemistry, gene sequencing, loss of heterozygosity analysis, and 
      Western blot were used to determine the expression of ACTH in MEN-1-related 
      thymic tumors, MEN1 gene mutation, the pattern and extent of allelic deletion, 
      and the expression of Menin in MEN-1-associated tumors, respectively. Tumor cells 
      from thymus ectopic-secreted ACTH. A deletion involving the MEN1 gene locus was 
      confirmed. The expression of Menin in MEN-1-associated tumors declined. To 
      conclude, we presented an unusual kindred of MEN-1, which pointed out the 
      significance of making screening of MEN-1 for both male and female patients with 
      CS and thymic carcinoid.
FAU - Li, Xiaohua
AU  - Li X
AD  - Department of Endocrinology and Metabolism, Shanghai First People's Hospital, 
      School of Medicine, Shanghai Jiao Tong University, Haining Road 100, Shanghai, 
      200080, China.
FAU - Su, Jing
AU  - Su J
FAU - Zhao, Li
AU  - Zhao L
FAU - Wu, Jingcheng
AU  - Wu J
FAU - Ding, Xiaoying
AU  - Ding X
FAU - Fang, Fang
AU  - Fang F
FAU - Wu, Yijie
AU  - Wu Y
FAU - Sun, Haiyan
AU  - Sun H
FAU - Peng, Yongde
AU  - Peng Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140123
PL  - United States
TA  - Endocrine
JT  - Endocrine
JID - 9434444
SB  - IM
MH  - ACTH Syndrome, Ectopic/complications
MH  - Adult
MH  - Carcinoid Tumor/*complications/diagnosis/metabolism
MH  - Cushing Syndrome/diagnosis/*etiology
MH  - Family
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*complications/diagnosis
MH  - Pedigree
MH  - Thymus Neoplasms/*complications/diagnosis/metabolism
EDAT- 2014/01/24 06:00
MHDA- 2015/06/09 06:00
CRDT- 2014/01/24 06:00
PHST- 2013/09/02 00:00 [received]
PHST- 2013/11/25 00:00 [accepted]
PHST- 2014/01/24 06:00 [entrez]
PHST- 2014/01/24 06:00 [pubmed]
PHST- 2015/06/09 06:00 [medline]
AID - 10.1007/s12020-013-0141-6 [doi]
PST - ppublish
SO  - Endocrine. 2014 Sep;47(1):183-90. doi: 10.1007/s12020-013-0141-6. Epub 2014 Jan 
      23.