Green Leah, Simpson Millie, Bahri Aufar, Fong Amy, Manning Patrick
Department of Medicine, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
JCEM Case Rep. 2025 May 29;3(7):luaf124. doi: 10.1210/jcemcr/luaf124. eCollection 2025 Jul.
Multiple endocrine neoplasia type-4 (MEN4) is a rare form of multiple endocrine neoplasia due to a pathogenic variation in the cyclin-dependent kinase inhibitor 1B ( gene. It has a similar presentation to patients with multiple endocrine neoplasia type-1 (MEN1), with primary hyperparathyroidism and pituitary adenomas being the most common features. In this case, we describe a 54-year-old woman presenting with a pituitary macroadenoma cosecreting growth hormone and prolactin and primary hyperparathyroidism. She was initially managed with cabergoline without satisfactory response. Eventually she proceeded to transsphenoidal pituitary resection of the adenoma, and histology revealed appearances consistent with a mixed somatotroph-lactotroph adenoma. Subsequently genetic analysis confirmed the presence of a pathogenic variant in the gene (), in keeping with a diagnosis of MEN4. This is the first case of a cosecreting pituitary macroadenoma to be described in a patient with MEN4.
4型多发性内分泌腺瘤病(MEN4)是一种罕见的多发性内分泌腺瘤病,由细胞周期蛋白依赖性激酶抑制剂1B(CDKN1B)基因的致病性变异引起。它与1型多发性内分泌腺瘤病(MEN1)患者的表现相似,原发性甲状旁腺功能亢进和垂体腺瘤是最常见的特征。在本病例中,我们描述了一名54岁女性,患有分泌生长激素和催乳素的垂体大腺瘤以及原发性甲状旁腺功能亢进。她最初接受卡麦角林治疗,但效果不佳。最终她接受了经蝶窦垂体腺瘤切除术,组织学检查显示符合混合性生长激素细胞-催乳素细胞腺瘤的表现。随后的基因分析证实了CDKN1B基因中存在致病性变异,符合MEN4的诊断。这是首例被描述的患有MEN4的分泌性垂体大腺瘤患者。