垂体柄阻断综合征合并身高过高:1例报告并文献复习

Pituitary stalk interruption syndrome complicated with high body height: a case report and literature review

本文报道了1例以外生殖器发育异常、身高过高为主要表现的垂体柄阻断综合征患者,并结合文献复习进行综合分析。垂体柄阻断综合征的发病原因主要包括两大观点:下丘脑垂体区损伤;先天遗传因素,具体致病基因尚不明确。垂体柄阻断综合征的影像学诊断标准为:垂体柄缺如或变细,神经垂体高信号异位,腺垂体发育不良。

The paper reported a case of pituitary stalk interruption syndrome （PSIS）, which is characterized by abnormal development of genitalia and high height. It was analyzed witgh literature review. Two main pathogenic mechanisms of the disease were found： the injury of the hypothalamic pituitary region; genetic factors. However, the virulence genes have not been located yet. The diagnostic criteria of PSIS were： absence or thinning of the pituitary stalk, high signal ectopia of the pituitary gland and hypoplasia of the pituitary gland.