Xin yixue (Mar 2022)

Management for multiple endocrine neoplasia 1 during pregnancy： clinical and genetic analysis for a pedigree and review of literature

  • Ye Zhiwei, Deng Hongrong, Liu Zhigu, Lin Huimin, Xu Wen, Yao Bin

DOI
https://doi.org/10.3969/j.issn.0253-9802.2022.03.013
Journal volume & issue
Vol. 53, no. 3
pp. 214 – 220

Abstract

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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.

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