生长激素缺乏并垂体柄中断13例临床分析

Clinical analysis of 13 cases with growth hormone deficiency combined with pituitary stalk interruption

目的分析垂体柄中断综合征（PSIS）患者的临床特点，提高对该类疾病的认识。方法回顾分析对2008年1月至2009年6月间浙江大学医学院附属儿童医院内分泌科收治的13例PSIS患者的临床表现、实验室检查和影像学表现。结果PSIS患儿13例，男性9例，女性4例。均以生长迟缓为主诉，身高81．5—135．0cm，均低于同年龄、同性别正常儿童平均身高的2个标准差以下，生长激素激发试验峰值均低于5μg/L；其中1例合并性发育迟缓，1例合并中枢性尿崩症；1例伴垂体性甲低，1例伴垂体性肾上腺皮质功能减退。结论PSIS以生长迟缓为主要临床表现，部分性或完全性垂体前叶功能减退，磁共振检查特点为垂体小，垂体柄缺如，垂体后叶异位。

Objective To analyze the clinical characteristics of the patients with pituitary stalk interruption syndrome（ PSIS）, and to achieve better comprehension of this disease. Method Data of 13 patients with PSIS were retrospectively analyzed for the clinical, laboratory and imaging features. Result All the 13 patients （9 male, 4 female） had the chief complaint of gTowth retardation, 81.5-135.0 cm in body height, which were minus two standard deviations below the average of the normal children of same age and same sex. GH stimulated peak levels were all below 5μg/L; Among them, one was accompanied by delayed sexual development, one by central diabetes insipidus, one was complicated with central hypothyroidism and one was acccompanied by central adrenocortical hypofunction. Conclusion The most remarkable clinical manifestations of patients with PSIS were growth retardation, partial or complete adenohypophyseal dysfunction. MRI revealed absence of pituitary stalk or anterior pituitary hypoplasia with ectopic posterior pituitary gland.