垂体柄阻断综合征的临床特征分析

Clinical characteristics of pituitary stalk interruption syndrome

目的:探讨垂体柄阻断综合征(pituitary stalk interruption syndrome,PSIS)的临床特征。方法:回顾性分析2009年10月至2019年3月复旦大学附属中山医院内分泌科收治的17例PSIS患者的一般特征、实验室检查和影像学数据。结果:17例患者中,女性3例(17.65%),男性14例(82.35%),发病年龄为(8.12±3.31)岁,病程为(18.59±6.87)年。性腺功能减退17例(100.00%)、生长激素缺乏16例(94.12%)、肾上腺皮质功能减退14例(82.35%)、甲状腺功能减退17例(100.00%)、高泌乳素血症5例(29.41%)、中枢性尿崩症1例(5.88%)。所有患者均合并至少3种垂体前叶激素异常,既往使用性激素、生长激素、糖皮质激素、甲状腺激素替代治疗患者分别为10例、7例、3例、7例。结论:对生长发育障碍及性腺发育异常患者常规行垂体影像学检查可减少误诊、漏诊。PSIS患者应定期随访,评估垂体前叶、后叶功能,有助于及时诊断、治疗。

Objective:To explore the clinical characteristics of patients with pituitary stalk interruption syndrome(PSIS).Methods:Clinical data including general characteristics,laboratory test results,and imaging findings of 17 patients with PSIS admitted to the Department of Endocrinology,Zhongshan Hospital,Fudan University from October 2009 to March 2019 were retrospectively analyzed.Results:Of the 17 patients,3(17.65%)cases were female,and 14(82.35%)cases were male.The age of onset was(8.12±3.31)years,and the course of disease was(18.59±6.87)years.There were 17(100.00%)cases of hypogonadism,16(94.12%)cases of growth hormone deficiency,14(82.35%)cases of adrenocortical dysfunction,17(100.00%)cases of hypothyroidism,5(29.41%)cases of hyperprolactinemia,and 1(5.88%)cases of central diabetes insipidus.All patients had at least three hormone abnormalities.The previous use of sex hormone,growth hormone,glucocorticoid,thyroid hormone replacement therapy were 10 cases,7 cases,3 cases,and 7 cases,respectively.Conclusions:For patients with growth and development disorders and gonadal dysplasia,routine pituitary imaging examination can reduce misdiagnosis and missed diagnosis.Patients with PSIS should be followed up regularly to assess the functions of the anterior and posterior pituitary,which is helpful for timely diagnosis and treatment.