中文摘要：

目的分析垂体柄中断综合征（pituitary stalk interruption syndrome,PSIS）的误诊情况及其原因。方法回顾性分析2004-2014年解放军总医院确诊的110例PSIS患者的临床资料,分析曾被误诊PSIS的病因和特征。结果 110例PSIS初次就诊时误诊率95.7%（96/110）,中位误诊时间6.0年;误诊的病种依次为特发性单纯生长激素缺乏37例（38.5%）、垂体前叶功能减退13例（13.5%）、生长发育迟缓12例（12.5%）、垂体发育不良9例（9.4%）、特发性低促性腺功能减退症8例（8.3%）、原发性甲状腺功能减退症8例（8.3%）、其他疾病9例（9.4%）。误诊病例出生时臀位或足先露68例（70.8%）,有难产史者27例（28.1%）;生长激素完全性缺乏96例（100%）,促性腺激素缺乏66例（68.8%）、促肾上腺皮质激素缺乏59例（61.5%）,高泌乳素血症30例（31.3%）,促甲状腺激素缺乏1例（1.0%）,≥3种垂体前叶激素缺乏57例（59.4%）。结论 PSIS误诊率高,对于生长激素等垂体前叶激素缺乏者,尤其出生时臀位或足先露者,应及早全面评估垂体功能并行垂体MRI检查,避免误诊。

英文摘要：

Objective To analyze the causes and clinical characteristics of pituitary stalk interruption syndrome（PSIS） which had been misdiagnosed in 96 cases. Methods We retrospectively analyzed the misdiagnosis history and clinical manifestations of 110 patients with PSIS from 2004 to 2014 in Chinese PLA General Hospital, and the misdiagnosed causes and clinical characteristics of PSIS were analyzed. Results Of the 110 patients with PSIS, 96 cases（95.7%） had been misdiagnosed. The mean misdiagnosis period was 6.0 years. The misdiagnosis rate in our hospital was much less than that in other hospital（2.73% vs 84.55%, P〈0.05）, especially after 2008. PSIS was misdiagnosed as many other diseases and the most common one was idiopathic growth hormone deficiency（37, 38.5%）, followed by hypopituitarism（13, 13.5%）, idiopathic hypogonadotropic hypogonadism（8, 8.3%）, primary hypothyroidism（8, 8.3%） and others（9, 9.4%）. A history of being born in breech presentation was documented in 68 of 96 patients（70.8%） and 27（28.1%） had a history of dystocia. The prevalence of deficiencies in growth hormone, gonadotropins, corticotropin, and thyrotropin were 100%, 68.8%, 61.5%, and 1.0%, respectively. Hyperprolactinemia was found in 31.3% of patients. Three or more pituitary hormone deficiencies were found in 59.4% of the patients. Conclusion The clinical manifestations of PSIS patients seem to be various with high misdiagnosis rate. For patients with growth hormone deficiency, especially when combined with breech presentation, comprehensive evaluation of anterior pituitary and MRI examination should be performed as early as possible.