Management for multiple endocrine neoplasia 1 during pregnancy： clinical and genetic analysis for a pedigree and review of literature
Objective To investigate the clinical characteristics and management strategies for multiple endocrine neoplasia 1 （MEN1） during pregnancy. Methods The gender, age, detailed medical history, clinical symptoms and signs, laboratory, imaging and pathological examination data of a MEN1 proband were col...
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of New Medicine
2022-03-01
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| Series: | Xin yixue |
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| Online Access: | https://www.xinyixue.cn/fileup/0253-9802/PDF/1648889568193-1511339874.pdf |
| _version_ | 1797987377715609600 |
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| author | Ye Zhiwei, Deng Hongrong, Liu Zhigu, Lin Huimin, Xu Wen, Yao Bin |
| author_facet | Ye Zhiwei, Deng Hongrong, Liu Zhigu, Lin Huimin, Xu Wen, Yao Bin |
| author_sort | Ye Zhiwei, Deng Hongrong, Liu Zhigu, Lin Huimin, Xu Wen, Yao Bin |
| collection | DOAJ |
| description | Objective To investigate the clinical characteristics and management strategies for multiple endocrine neoplasia 1 （MEN1） during pregnancy. Methods The gender, age, detailed medical history, clinical symptoms and signs, laboratory, imaging and pathological examination data of a MEN1 proband were collected. And the demographic characteristics, clinical characteristics and auxiliary examination of 20 members from the MEN1 family were also collected. MEN1 cases during pregancy were searched from PubMed and Wanfang Data using the keywords of “Multiple Endocrine Neoplasia Type 1“and“Pregnant” in both English and Chinese. Results The main clinical manifestations of the MEN1 proband were pituitary microadenoma （galactorrhea, elevated prolactin）, pancreatic endocrine tumor （hypoglycemia） and parathyroid adenoma （asymptomatic, elevated parathyroid hormone and blood calcium）. Gene analysis confirmed that exon 9 of MEN1 gene （CGA > TGA, Arg415Term） was the pathogenic mutated gene. The father and daughter of the proband carried this pathogenic mutation and had hyperparathyroidism. After drug treatment for pituitary microadenoma and surgical treatment for pancreatic endocrine tumor and parathyroid adenoma, the proband was pregnant and delivered a female infant successfully. During this period, there was no recurrence of galactorrhea and hypoglycemia, the levels of parathyroid hormone and blood calcium were stable, and fetal growth and development were normal. A total of seven pregnant cases of MEN1 in English literature and one in Chinese literature were retrieved. It was found that all MEN1 patients developed onset of diseases at childbearing age. As for clinical symptoms, parathyroid, pancreas and pituitary were the most involved. Most patients had family history and MEN1 gene mutation. In terms of pregnancy outcome, seven patients delivered successfully under strict condition monitoring and treatment. Conclusion Clinicians’ active detection, diagnosis and treatment will help to improve the prognosis of MEN1 patients and their offspring. |
| first_indexed | 2024-04-11T07:47:46Z |
| format | Article |
| id | doaj.art-ec876aa96c304268a2b5db9830ae6763 |
| institution | Directory Open Access Journal |
| issn | 0253-9802 |
| language | zho |
| last_indexed | 2024-04-11T07:47:46Z |
| publishDate | 2022-03-01 |
| publisher | Editorial Office of Journal of New Medicine |
| record_format | Article |
| series | Xin yixue |
| spelling | doaj.art-ec876aa96c304268a2b5db9830ae67632022-12-22T04:36:14ZzhoEditorial Office of Journal of New MedicineXin yixue0253-98022022-03-0153321422010.3969/j.issn.0253-9802.2022.03.013Management for multiple endocrine neoplasia 1 during pregnancy： clinical and genetic analysis for a pedigree and review of literatureYe Zhiwei, Deng Hongrong, Liu Zhigu, Lin Huimin, Xu Wen, Yao Bin0△Department of Endocrinology and Metabolism, the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, ChinaObjective To investigate the clinical characteristics and management strategies for multiple endocrine neoplasia 1 （MEN1） during pregnancy. Methods The gender, age, detailed medical history, clinical symptoms and signs, laboratory, imaging and pathological examination data of a MEN1 proband were collected. And the demographic characteristics, clinical characteristics and auxiliary examination of 20 members from the MEN1 family were also collected. MEN1 cases during pregancy were searched from PubMed and Wanfang Data using the keywords of “Multiple Endocrine Neoplasia Type 1“and“Pregnant” in both English and Chinese. Results The main clinical manifestations of the MEN1 proband were pituitary microadenoma （galactorrhea, elevated prolactin）, pancreatic endocrine tumor （hypoglycemia） and parathyroid adenoma （asymptomatic, elevated parathyroid hormone and blood calcium）. Gene analysis confirmed that exon 9 of MEN1 gene （CGA > TGA, Arg415Term） was the pathogenic mutated gene. The father and daughter of the proband carried this pathogenic mutation and had hyperparathyroidism. After drug treatment for pituitary microadenoma and surgical treatment for pancreatic endocrine tumor and parathyroid adenoma, the proband was pregnant and delivered a female infant successfully. During this period, there was no recurrence of galactorrhea and hypoglycemia, the levels of parathyroid hormone and blood calcium were stable, and fetal growth and development were normal. A total of seven pregnant cases of MEN1 in English literature and one in Chinese literature were retrieved. It was found that all MEN1 patients developed onset of diseases at childbearing age. As for clinical symptoms, parathyroid, pancreas and pituitary were the most involved. Most patients had family history and MEN1 gene mutation. In terms of pregnancy outcome, seven patients delivered successfully under strict condition monitoring and treatment. Conclusion Clinicians’ active detection, diagnosis and treatment will help to improve the prognosis of MEN1 patients and their offspring.https://www.xinyixue.cn/fileup/0253-9802/PDF/1648889568193-1511339874.pdf|multiple endocrine neoplasia 1|men1 gene|pregnancy|autosome|pituitary adenoma |
| spellingShingle | Ye Zhiwei, Deng Hongrong, Liu Zhigu, Lin Huimin, Xu Wen, Yao Bin Management for multiple endocrine neoplasia 1 during pregnancy： clinical and genetic analysis for a pedigree and review of literature Xin yixue |multiple endocrine neoplasia 1|men1 gene|pregnancy|autosome|pituitary adenoma |
| title | Management for multiple endocrine neoplasia 1 during pregnancy： clinical and genetic analysis for a pedigree and review of literature |
| title_full | Management for multiple endocrine neoplasia 1 during pregnancy： clinical and genetic analysis for a pedigree and review of literature |
| title_fullStr | Management for multiple endocrine neoplasia 1 during pregnancy： clinical and genetic analysis for a pedigree and review of literature |
| title_full_unstemmed | Management for multiple endocrine neoplasia 1 during pregnancy： clinical and genetic analysis for a pedigree and review of literature |
| title_short | Management for multiple endocrine neoplasia 1 during pregnancy： clinical and genetic analysis for a pedigree and review of literature |
| title_sort | management for multiple endocrine neoplasia 1 during pregnancy clinical and genetic analysis for a pedigree and review of literature |
| topic | |multiple endocrine neoplasia 1|men1 gene|pregnancy|autosome|pituitary adenoma |
| url | https://www.xinyixue.cn/fileup/0253-9802/PDF/1648889568193-1511339874.pdf |
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