女性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

目的 分析比较女性特发性低促性腺激素性性腺功能减退症(idiopathic hypogonadotropic hypogonadism,IHH)与垂体柄中断综合征(pituitary stalk interruption syndrome,PSIS)临床特征,以增进对于两疾病的认识.方法 对我科收治的10例女性IHH和5例女性PSIS患者临床特征进行回顾性分析.结果 女性IHH与PSIS患者大多以性发育迟缓就诊,均可合并先天发育缺陷,不同点主要包括:①女性PSIS多有异常生产或难产史;②女性IHH较PSIS有较高的身高、指间距(P<0.05);③女性PSIS患者常合并垂体前叶多种激素缺乏;IHH患者以促性腺激素和生长激素缺乏为主;④女性PSIS垂体核磁常表现为垂体柄中断合并垂体后叶异位,而大约一半的女性IHH患者仅垂体体积变小.结论 女性IHH与PSIS为临床少见疾病,对于以性不发育就诊的女性患者,详细的病史询问和查体、行内分泌功能试验及垂体MRI可以有效地鉴别两疾病.

Clinical characterisitics of female idiopathic hypogonadotropic hypogonadism and pituitary stalk interruption syndrome

Objective To improve the differential diagnosis between female idiopathic hypogonadotropic hypogonadism(IHH) and pituitary stalk interruption syndrome(PSIS).Methods Clinical characteristics of 10 female cases of IHH and 5 female cases of PSIS in our hospital were analyzed and compared retrospectively.Results Both of female IHH and PSIS were characterized as puberty development delay and combined with congenital malformations.The main difference between them were as follows:①Female PSIS patients had higher incidence of abnormal labor.②Female IHH patients had higher height and arm span(P<0.05).③Female PSIS patients were often combined with a variety of anterior pituitary hormone deficiency,while female IHH patients usually showed growth hormone deficiency and often associated with hypogonadotrophin.④Female PSIS patients often showed pituitary stalk interruption with ectopic posterior,while 5 female IHH patients just presented with the reduced pituitary volume.Conclusion Both female IHH and PSIS are rare clinically.Female patients with delayed puberty should be carefully investigated on case history,and the physical examination,a full pituitary hormonal evaluation and MRI examination to differentiate two diseases.