Abstract
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. (Chin J Endocrinol Metab, 2017, 33: 885-889) Key words: Pituitary stalk interruption syndrome; Phenotype; Genetic heterogeneity; SHH signaling pathway
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