特发性低促性腺激素性性腺功能减退症与垂体柄中断综合征临床特征比较

Clinical characteristics of idiopathic hypogonadotropic hypogonadism and pituitary stalk interruption syndrome:A comparative study

目的分析比较特发性低促性腺激素性性腺功能减退症(IHH)与垂体柄中断综合征(PSIS)临床特征。方法对我科收治的74例嗅觉正常的IHH和36例PSIS临床特征进行回顾性分析。结果 IHH与PSIS患者大多以性发育迟缓就诊,临床特征:1)PSIS患者异常胎位生产(主要为臀位生产)比例为61.1%,IHH为5.4%(P<0.000);2)IHH比PSIS患者有较高的身高、指间距(P=0.000)。两疾病多为下部量大于上部量、身高大于指间距;但≥18岁男性IHH患者75.7%指间距大于身高。3)两种疾病患者第二性征均发育差;4)两疾病均可合并先天缺陷或异常,以隐睾多见;5)PSIS患者较IHH患者骨龄落后更显著;6)PSIS患者常合并垂体前叶多种激素缺乏,且常需要替代治疗;IHH患者以促性腺激素和生长激素缺乏为主;7)PSIS垂体核磁常表现为垂体柄中断合并垂体后叶异位,而大部分IHH患者仅垂体体积变小。结论 IHH与PSIS患者多以性不发育就诊。≥18岁IHH患者多为瘦长体型,PSIS患者多为矮胖体型。PSIS常合并多种垂体前叶激素缺乏,需要替代治疗。垂体MRI是鉴别两疾病的有效方法。

Objective To compare the different clinical characteristics of idiopathic hypogonadotropic hypogonadism（IHH） and pituitary stalk interruption syndrome（PSIS）.Methods Clinical characteristics of 74 IHH patients and 36 PSIS patients with normal osphresis admitted to our hospital were retrospectively analyzed.Results Most IHH and PSIS patients were diagnosed as delayed sexual development.Their clinical characteristics were as follows： 1.Most PSIS and IHH patients were delivered in an abnormal fetal position（mainly in a breech presentation）,accounted for 61.1% and 5.4%,respectively（P0.01）;2.The body height and the distance between digiti of IHH patients were greater than those of PSIS patients（P0.05）.The incidence of IHH and PSIS was higher in the lower part than in the higher part,and the body height was greater than the distance between digiti.However,the distance between digiti was greater than the body height in 75% male IHH patients at the age≥18;3.The development of secondary sexual features was quite slow in both of IHH and PSIS patients;4.Both of IHH and PSIS were complicated with congenital defect or abnormality,especially cryptorchidism;5.The skeletal age was significantly lower in PSIS patients than in IHH patients;6.The PSIS patients were often complicated with deficiency in a variety of anterior pituitary hormones needing replacement therapy,while IHH patients usually were mainly deficient in gonadotropic hormone and growth hormone;7.Pituitary stalk interruption complicated with ectopic posterior was usually found in PSIS patients and reduced pituitary volume was often observed in most IHH patients on MRI images.Conclusion IHH and PSIS patients are usually characterized by delayed development of sexual features.Most IHH patients at the age 18≥years are thin and high,while PSIS patients are short and fat,usually complicated with deficiency in a variety of in pituitary hormones and need replacement therapy.Pituitary MRI is an effective method for the differential diagnosis of IHH and PSIS.