A 25-Year Follow-Up and Family Report
Mei Yang, Sha Li, Xiao Wei Zhong
JCEM Case Reports, Volume 3, Issue 3, March 2025, luae248
https://doi.org/10.1210/jcemcr/luae248
Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant genetic disorder characterized by neoplasia of the parathyroid, pancreatic islets, and anterior pituitary. In this report, we present a family case in which the proband was diagnosed with prolactinoma 25 years ago. During the current hospitalization, the patient was diagnosed with insulinoma, primary hyperparathyroidism, and adrenocortical carcinoma. The final diagnosis was MEN1, confirmed by identifying a heterozygous mutation in the MEN1 gene through genetic testing. The proband’s son also tested positive for the same MEN1 gene mutation, although he exhibited no clinical symptoms. MEN1 associated with adrenocortical carcinoma is exceptionally rare, carries a high malignancy risk, and has a poor prognosis. Genetic testing for the MEN1 gene is crucial for accurate diagnosis, while family screening is beneficial for early detection, timely treatment, and improving patient outcomes.
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