Objective To improve the clinical diagnosis for patients with pituitary stalk interruption syndrome (PSIS).Methods Six patients (4 males and 2 females) with PSIS were retrospectively analyzed with respects to the clinical features,endocrine status and image characteristics.Results The clinical manifestations included growth retardation and delayed puberty.All of them were deficient in growth hormone and pituitary gonadotropin secretion.Secondary hypothyroidism and hypocortisolism occurred in 5 patients.The typical imaging finding is a thin or absent pituitary stalk,often associated with an ectopic posterior pituitary and a hypoplastic anterior pituitary.Replacement of multiple anterior pituitary hormones is the key of the treatment.Conclusion PSIS is rarely seen and the clinical characteristics of patients with PSIS are growth retardation and delayed puberty,partial or complete adenohypophyseal dysfunction.The detection of hypothalamic pituitary region by MR is an important diagnostic tool.The evaluation of anterior pituitary function is necessary.Doctors should have a complete understanding of the disease and give patients effective treatment and a better prognosis would be obtained.%目的 提高对垂体柄阻断综合征(PSIS)的认识.方法 回顾并分析2013年1月---2017年6月海南省人民医院内分泌科确诊的PSIS患者6例的临床资料并进行文献复习.结果 6例患者中男4例,女2例,年龄11～18岁.患者主要表现为第二性征不发育或生长发育迟缓,无垂体后叶功能不全表现,所有患者均存在生长激素缺乏、低促性腺激素性性腺功能减退,5例合并肾上腺皮质储备功能不足,5例合并有中枢性甲状腺功能减退,其中4例患者临床并无相应表现.垂体MR增强扫描可见垂体前叶发育不良,垂体柄缺如,垂体后叶异位,激素替代治疗是有效手段.结论 PSIS临床少见,以第二性征不发育或生长发育迟缓为主要表现,合并部分性或完全性垂体前叶功能减退而垂体后叶功能正常,MR有特征性表现,临床医师应提高对该病的认识,早期治疗,改善预后.
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