垂体柄阻断综合征一例病例报道及文献复习

Case Report and Literature Review of One Case of Pituitary Stalk Interruption Syndrome

摘要: 目的：报道1例垂体柄阻断综合征病例，并通过文献复习加深对疾病的认识。方法：回顾性分析1例垂体柄阻断综合征患儿的临床特征，同时检索相关文献进行复习总结。结果：患儿，男，1岁8月，生长发育迟缓伴尿道下裂、小阴茎，临床诊断为垂体柄阻断综合征，全外显子基因检测未见可疑致病基因。结论：垂体柄阻断综合征临床表现各异，易被误诊、漏诊，临床中应早期诊断，合理治疗，积极干预，改善患儿预后。

Abstract: Objective: To report a case of pituitary stalk interruption syndrome and deepen the understanding of the disease through literature review. Methods: The clinical features of a child with pituitary stalk interruption syndrome were retrospectively analyzed, and relevant literature was retrieved for review and summary. Results: The patient was a 1-year-8-month-old boy with growth retardation, hypospadias and micropenis. He was clinically diagnosed with pituitary stalk interruption syndrome. No suspicious pathogenic genes were found in the whole exon gene test. Conclusion: The clinical manifestations of pituitary stalk interruption syndrome are diverse and it is prone to misdiagnosis and missed diagnosis. Early diagnosis, reasonable treatment and active intervention should be carried out in clinical practice to improve the prognosis of children.