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Familial Cushing syndrome due to thymic carcinoids in a multiple endocrine neoplasia type 1 kindred

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Abstract

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.

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Acknowledgments

The present study would not have been possible without the participation of the patients and their family members. The authors thank the department of endocrinology and metabolism of Ruijin hospital for providing clinical information of the proband. The study was supported by the National Natural Science Foundation of China (Nos. 81000333 and 30800562).

Conflict of interest

The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

Ethical standard

This study was approved by the medical ethics committee of Shanghai First People’s Hospital. All participants who participated in this research gave written informed consent.

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Authors and Affiliations

  1. Department of Endocrinology and Metabolism, Shanghai First People’s Hospital, School of Medicine, Shanghai Jiao Tong University, Haining Road 100, Shanghai, 200080, China

    Xiaohua Li, Jing Su, Li Zhao, Jingcheng Wu, Xiaoying Ding, Fang Fang, Yijie Wu, Haiyan Sun & Yongde Peng

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  1. Xiaohua Li
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  2. Jing Su
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  3. Li Zhao
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  4. Jingcheng Wu
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  5. Xiaoying Ding
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  6. Fang Fang
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  7. Yijie Wu
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  8. Haiyan Sun
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  9. Yongde Peng
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Corresponding authors

Correspondence to Haiyan Sun or Yongde Peng.

Additional information

Xiaohua Li and Jing Su contributed equally to this work and should be considered co-first authors.

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Li, X., Su, J., Zhao, L. et al. Familial Cushing syndrome due to thymic carcinoids in a multiple endocrine neoplasia type 1 kindred. Endocrine 47, 183–190 (2014). https://doi.org/10.1007/s12020-013-0141-6

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  • DOI: https://doi.org/10.1007/s12020-013-0141-6

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