五例垂体柄中断综合征的临床诊断  

Clinical diagnosis of 5 cases of pituitary stalk interruption syndrome

作　　者：叶红英[1] 李庆华[1] 吴晞[1] 杨叶虹[1] 闻杰[1] 鹿斌[1] 周丽诺[1] 李益明[1] 周一鸣[1] 姚振威[2] 朱禧星[1] 胡仁明[1] 

机构地区：[1]复旦大学附属华山医院内分泌代谢科,上海200040 [2]复旦大学附属华山医院放射科,上海200040

出　　处：《中华内分泌代谢杂志》2008年第5期483-485,共3页Chinese Journal of Endocrinology and Metabolism

摘　　要：目的提高对垂体柄中断综合征（PSIS）的认识和诊断水平。方法回顾分析5例PSIS患者的临床表现、垂体前叶及各靶腺轴和垂体后叶功能、影像学表现。结果PSIS患者5例，其中男性4例，年龄17—21岁，3例有难产史，1例有头颅外伤史，均表现为不同程度的生长发育障碍，1例有畏寒、反应迟钝等甲状腺功能减退症状，均无多饮和低比重尿。所有患者存在生长激素缺乏、低促性腺激素性性腺功能减退和肾上腺皮质储备功能不足，4例患者同时存在中枢性甲状腺功能减退，3例临床并无相应表现。磁共振检查显示所有患者垂体柄和垂体后叶正常高信号消失，而在视交叉下（4例）、蝶窦内（1例）见到点状异常高信号，伴部分空蝶鞍。结论PSIS以生长发育迟缓为主要临床表现，部分性或完全性垂体前叶功能减退而垂体后叶功能正常，磁共振检查呈现的特征性改变为重要诊断依据。Objective To raise the level of clinical diagnosis for the patients with pituitary stalk interruption syndrome （PSIS）. Methods Five patients （4 males） with PSIS were retrospectively analyzed with respects to the clinical features, endocrine status and image characteristics. Magnetic resonance imaging （MRI） scan was performed at hypothalamic-pituitary region. Results The clinical manifestations of all patients consisted of growth retardation and delayed puberty without polyuria. Deficiency of multiple anterior pituitary hormones was revealed in all patients by the evaluation of endocrine status. The features of MRI included a lack of visible pituitary stalk, absence of posterior lobe hypersignal in the sella turcica and a hyperintense spot in the region of the thalamus opticus. Conclusion The clinical characteristics of patients with PSIS are growth retardation and delayed puberty. The evaluation of anterior pituitary function is necessary. The detection of an anatomical abnormality around hypothalamic-pituitary region by MRI is important diagnostic evidence.

关 键 词：垂体柄中断综合征 生长发育迟缓 垂体功能减退 

分 类 号：R584[医药卫生—内分泌] R584.2[医药卫生—内科学]