垂体柄中断综合征五例分析并文献复习

目的 分析垂体柄中断综合征(pituitary stalk interruption syndrome,PSIS)患者的临床特点提高对该类疾病的临床认识.方法 采用回顾性分析的方法,对我院近7年来收治的5例PSIS患者的临床表现、实验室检查和影像学特点进行分析.结果 5例PSIS患者中男性4例,女性1例.临床特征是:(1)生长发育迟缓;(2)出生时臀位分娩率高;(3)身高159～165 cm,下部量大于上部量,指间距小于身长;(4)骨龄落后3～8岁不等;(5)智力基本正常,但学习成绩逐渐下降;(6)有垂体前叶功能减退的临床表现 和实验室检查;(7)垂体后叶功能正常;(8)垂体MRI增强扫描:垂体柄未见,垂体小,后叶异位.PSIS的发病机制不详.垂体前叶激素替代治疗是唯一有效的疗方式,但要把握治疗时机.结论 PSIS发病率低临床特征不同于单纯性垂体侏儒和低促性腺激素性性腺功能减退,临床应提高认识,把握治疗时机.

Clinical analysis of 5 cases of pituitary stalk interruption syndrome and literature review

Objective To analyze the clinical characteristics of the patients with pituitary stalk interruption syndrome (PSIS) in our hospital in the past seven years, and to achieve better comprehension of this kind of disease. Methods Five patients with PSIS (4 males, 1 female) in our hospital were retrospectively analyzed, regarding clinical manifestation, laboratory and imaging data. Results The clinical features of 5 cases of PSIS were as follows: (1) growth retardation; (2) high incidence of breech delivery; (3) 159-165 cm in body height; (4) retarded bone age; (5) average intelligence; (6) adenohypophyseal dysfunction in clinical and laboratory examinations; (7) normal posterior pituitary function; (8) MRI with gadolinium contrast revealed no pituitary stalk and anterior pituitary hypoplasia with ectopic posterior pituitary. The pathogenesis of PSIS is not clear. Appropriate hormonal replacement therapy is the only effective way. Conclusion PSIS is rarely seen and its clinical feature is different from pituitary dwarfism and hypogonadotropic hypogonadism. The realization for this syndrome should be emphasized and early therapy is essential.