垂体柄中断综合征3例分析

Clinical analysis of 3 cases with pituitary stalk interruption syndrome:presentation,diagnostic and treatment

目的对垂体柄中断综合征(PSIS)患者的临床特点进行分析,加强对垂体柄中断综合征的认识,提高该疾病的诊断及治疗水平。方法采用回顾性分析方法,对本院内分泌科2013年1月至2017年1月期间收治的3例垂体柄中断综合征患者的临床表现、内分泌评估及影像学特点进行分析。结果 3例患者均为青年男性。共同特点包括存在不同程度的外生殖器发育不良、完全性生长激素缺乏、智力正常、垂体MRI提示垂体柄纤细或显示不清、垂体后叶正常信号消失。不同点包括:患者1、2存在不同程度的生长发育迟缓、骨龄落后、继发性肾上腺皮质功能减退、继发性甲状腺功能减退及低促性腺激素性性功能减退,患者3无上述特点;仅患者3存在中枢性尿崩症;患者1、3出生时无难产,患者2出生时难产。结论 PSIS在影像学上呈现特征性的"垂体柄缺如或纤细、垂体后叶异位和垂体前叶发育不良"三联征,临床上常以生长发育迟缓为突出表现,存在不同程度的垂体前叶功能减退,垂体后叶功能障碍较少见。治疗上需进行激素的终身替代治疗。

Objective To summarize and analyze the clinical characteristics of pituitary stalk interruption syndrome（PSIS）,so as to improve the diagnostic and therapeutic ability of PSIS.Method Three patients（all males） who were diagnosed as PSIS between Jan.2013 to Jan.2017 from our hospital were selected to retrospectively analyzed with respects to the clinical features,endocrine test results and image characteristics.Result All patients consisted of genital dysplasia,complete growth hormone deficiency and normal intelligence.Multihypofunction of anterior pituitary was present in patient 1 and 2,and central diabetes insipidus was present in pantient 3 but absent in paient 1 and 2.The features of MRI included a lack of visible pituitary stalk.Conclusion PSIS often presents triad in image characteristics.Growth retardation is the most prominent feature in clinical characteristics of patients with PSIS.PSIS also presents different degrees of hypofunction of anterior pituitary.Hormone replacement is the most effective therapy in these patients.