摘要
目的探讨儿童垂体柄阻断综合征的临床特征，以期更好地了解这种少见疾病。方法收集2013年5月至2015年5月首都儿科研究所诊断垂体柄阻断综合征13例患儿的临床资料及垂体MRI结果。用2种生长激素激发试验评价生长激素轴，甲状腺素及促甲状腺素评价甲状腺轴，胰岛素低血糖试验、促肾上腺素及皮质醇评价肾上腺轴，曲谱瑞林激发试验评价性腺轴。结果男女比例7：6。诊断年龄8个月-16岁，中位年龄10岁。确诊时病程2个月-12年。6例以“生长缓慢”为主诉，占46．1％；4例以“反复抽搐发作”为主诉，占30．7％；2例以“阴茎短小”为主诉；1例以“便秘，纳差”为主诉。13例患儿中11例身高在第3百分位以下，占84．6％；2例在第25百分位以下。9例骨龄明显落后。9例患儿行生长激素激发试验，均无峰值。12例测定类胰岛素样生长因子1的患儿中11例降低。13例中生长激素缺乏、甲状腺激素缺乏各12例（各占92．3％），10例有继发性皮质功能减退（占76．9％）。6例患儿行曲谱瑞林试验，试验前后促黄体生成素及促甲状腺素均无明显变化。13例患儿垂体MRI均表现为垂体柄阻断或纤细，垂体前叶发育不良和垂体后叶异位高信号。垂体后叶易位至下丘脑7例。结论垂体柄阻断综合征多以生长缓慢就诊，也有因反复低血糖发作就诊。表现为多种垂体前叶激素缺乏，垂体MRI检查为诊断依据。
Objective To explore the clinical diagnosis of patients with pituitary stalk interruption syndrome （PSIS） in order to better understand this rare disease. Methods A retrospective analysis was performed in the pa- tients with PSIS diagnosed at the Capital Institute of Pediatrics between May 2013 and May 2015. Two growth hormone provocation tests were performed to evaluate growth axis, while thyrotrophin and free thyroxine were performed to evalua- te thyroid axis, and insulin hypoglycemia test, adrenocortieotrophie hormone and cortisone were performed to evaluate adrenal gland axis,while gonadorelin provocation tests were performed to evaluate gonads axis. Results The male to fe- male ratio of PSIS was 7 to 6. The ages of patients varied from 8 months to 16 years. Median age at diagnosis was 10 years. The clinical manifestations of 6 patients with growth retardation （46. 1% ）, 4 patients with seizure afebrile （30. 7% ） ,2 patients with micropenis, and 1 patient with constipation and poor appetite. The heights of 11 patients out of 13 （84.6%） were less than the 3 percent of the normal growth curve, while the rest of 2 patients＇ heights were less than the 25 percent of the normal growth curve. The bone age of 9 patients had been dramatically delayed. Nine patients had checked growth hormone provocation tests, and none of them had normal peak value. Insulin growth factor 1 was de- creased in eleven of 12 patients. Gonadorelin provocation tests were performed in 6 patients, and the value of luteinizing hormone and follicle - stimulating hormone levels had no change before and after provocation. Twelve of 13 patients had growth hormone deficiency（92.3% ）, 12 patients had hypothyroidism（92.3% ）,and 10 cases had secondary adrenal insufficiency（76.9% ）. The MRI features of 13 patients included thinning pituitary stalk or a lack of visible pituitary stalk, hypoplasia of the anterior pituitary lobe, and ectopia of the posterior pituitary lobe. The ectopic posterior lobes were found in hypothala
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2016年第8期596-599,共4页
Chinese Journal of Applied Clinical Pediatrics
关键词
垂体柄阻断综合征
儿童
临床诊断
Pituitary stalk interruption syndrome
Child
Clinical diagnosis
