Endocrinology, Centro Hospitalar de Lisboa Ocidental EPE Hospital de Egas Moniz, Lisboa, Portugal
Endocrinology, Centro Hospitalar de Lisboa Ocidental EPE Hospital de Egas Moniz, Lisboa, Portugal.
BMJ Case Rep. 2021 Dec 31;14(12):e247989. doi: 10.1136/bcr-2021-247989.
Pituitary gigantism is extremely rare, resulting from excessive secretion of growth hormone (GH) before fusion of epiphysial growth plates. We report a case of a 13-year-old boy, who presented with increased statural growth and headaches since the age of 10 years. On physical examination, his height was 180.7 cm (+3.3 SD) and Tanner stage V. Investigation revealed increased levels of serum age-adjusted and sex-adjusted insulin-like growth factor 1 (IGF-1) and failure of GH suppression during an oral glucose tolerance test (OGTT). MRI of the sellar region revealed a pituitary macroadenoma. He underwent transsphenoidal surgery and histopathological evaluation revealed mammosomatotropic adenoma. Three months after surgery, IGF-1 normalised, nadir GH during OGTT was less than 1 ng/mL and no residual tumour was found on the MRI. Genetic testing identified a mutation in the gene. This case emphasises the importance of early diagnosis of gigantism, as treatment delay increases long-term morbidity.
垂体性巨人症极为罕见,是由于生长激素(GH)在骺板融合之前过度分泌所致。我们报告了 1 例 13 岁男孩的病例,他自 10 岁起出现身高增长过快和头痛。体格检查发现,他的身高为 180.7cm(+3.3SD),Tanner 分期为 V 期。检查显示血清年龄和性别调整的胰岛素样生长因子 1(IGF-1)水平升高,口服葡萄糖耐量试验(OGTT)期间 GH 抑制失败。鞍区 MRI 显示垂体大腺瘤。他接受了经蝶窦手术,组织病理学评估显示为催乳生长激素腺瘤。手术后 3 个月,IGF-1 恢复正常,OGTT 时 GH 谷值<1ng/mL,MRI 上未发现残留肿瘤。基因检测发现了 基因的突变。该病例强调了巨人症早期诊断的重要性,因为治疗延迟会增加长期发病率。