Case and pedigree report of a multihormonal pituitary adenoma associated with a MEN1 gene mutation

VernacularTitle:MEN1基因突变致多激素分泌垂体瘤病例与家系报道
Author: Yukun CUI ¹ ; Hua LIN ; Fang ZHANG ; Libo YANG ; Yunting LIU ; Fangfang ZENG ; Chaoyun ZHANG ; Wenshan LYU
Author Information

1. 青岛大学附属医院内分泌与代谢性疾病科，青岛　266003
Publication Type:Journal Article
Keywords: Multiple endocrine neoplasia type 1; MEN1 gene mutations; Pituitary adenoma
From: Chinese Journal of Endocrinology and Metabolism 2025;41(11):958-965
CountryChina
Language:Chinese
Abstract: We report a family with multiple endocrine neoplasia type 1(MEN1), in which the proband presented with primary amenorrhea and was diagnosed with both a pituitary prolactinoma and an ACTH-secreting adenoma. Genetic testing identified a heterozygous MEN1 gene c. 1449_1476del mutation in the proband, as well as in six additional family members, who exhibited variable clinical phenotypes. Following initial transsphenoidal pituitary surgery, the proband's symptoms and biochemical abnormalities persisted, with elevated ACTH and cortisol levels. Functional imaging using [ 68Ga]-DOTA-TATE PET/CT confirmed residual pituitary tumor tissue, and a second surgery resulted in biochemical remission.