Galbiati Francesca, Kaiser Ursula B
Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
JCEM Case Rep. 2023 Apr 13;1(2):luad030. doi: 10.1210/jcemcr/luad030. eCollection 2023 Mar.
GH-secreting pituitary adenomas can cause gigantism or acromegaly, determined by onset before or after epiphyseal fusion of the distal ends of the radius and ulna. Overlapping phenotypes can occur when the condition presents peripubertally. Gigantism is associated with identifiable hereditary causes and genetic mutations in almost 50% of cases; genetic testing should be considered in patients with gigantism and early-onset acromegaly, especially (but not only) when pituitary tumors have aggressive features and/or are refractory to standard treatments. Here, we present a case of a young adult with a giant somatotroph adenoma resistant to multiple treatment modalities and negative for mutations in , which encodes aryl hydrocarbon receptor-interacting protein.
分泌生长激素的垂体腺瘤可导致巨人症或肢端肥大症,这取决于桡骨和尺骨远端骨骺融合之前或之后发病。当病情在青春期前后出现时,可能会出现重叠的表型。在近50%的病例中,巨人症与可识别的遗传原因和基因突变有关;对于患有巨人症和早发性肢端肥大症的患者,尤其是(但不限于)垂体肿瘤具有侵袭性特征和/或对标准治疗无效时,应考虑进行基因检测。在此,我们报告一例年轻成人巨大生长激素腺瘤病例,该病例对多种治疗方式均耐药,且编码芳烃受体相互作用蛋白的基因无突变。