中枢性性早熟遗传学研究进展

Advances of genetics of central precocious puberty

中枢性性早熟源于下丘脑-垂体-性腺轴过早激活,与正常青春期进展顺序一致。目前引发青春期启动的许多因素仍不明确,遗传学机制可能发挥重要作用。在散发性和家族性病例中已发现kisspeptin系统、MKNR3和DLK1基因激活或失活突变。现对上述基因及作用机制进行讨论,同时简述与中枢性性早熟相关的15个潜在基因及4个以中枢性性早熟为部分表现的临床综合征。

Central precocious puberty(CPP)results from early activation of the hypothalamic-pituitary-gonadal(HPG)axis and follows the same sequence as normal puberty.While many factors are involved in pubertal initiation but the mechanisms are remain poorly understood,and genetic factors are known to play a key role.The kisspeptin system,MKNR3 and DLK1 gene activation or inactivation mutations have been identified in sporadic and familial cases.Here,their mechanism are further discussed.At the same time,15 genes potentially related to CPP and 4 clinical syndromes with CPP as part of the presentation are briefly described.