垂体柄中断综合征遗传学研究进展

Advance in genetic study of pituitary stalk interruption syndrome

垂体柄中断综合征（PSIS）是一种罕见发育缺陷，因其影像学特征为垂体柄纤细或消失而命名，常伴随多种垂体激素缺乏。PSIS的发病机制与遗传和环境因素密切相关，具有高度临床异质性和遗传异质性，其致病机制主要与HESX1、LHX4、OTX2、SOX3、CDON、GPR161、PROKR2、TGIF基因突变及Wnt、Notch和SHH信号通路有关。近年来随着相关遗传学研究不断深入，研究证实CDON、GPR161、PROKR2、TGIF及SHH通路参与PSIS发生发展，为揭示PSIS发病机制提供了新思路。

Pituitary stalk interruption syndrome （PSIS） is a developmental defect, characterized by a thin or absent pituitary stalk. PSIS is a rare disease with combined pituitary hormone deficiencies, the pathogenesis of which is related to genetic mutations and environmental factors. It is also a genetically and clinically heterogeneous disease. Nine genes were found to be related to PSIS, including HESX1, LHX4, OTX2, SOX3, CDON, GPR161, PROKR2, TGIF and Wnt, Notch, SHH signalling pathways. In recent years, the intensive genetic studies show that four novel genes（CDON, GPR161, PROKR2, TGIF） and SHH pathway are related to PSIS, which provides a brand-new etiopathogenesis of PSIS.