Kallmann综合征研究进展及儿科早期诊断

Research advances and early diagnosis of Kallmann syndrome

单纯性低促性腺激素性腺发育不良合并嗅觉障碍是Kallmann综合征(KS)的主要临床特征,其主要病理机制涉及不同基因缺陷(如KAL1、FGFR1、PROK2/PROKR2等),导致下丘脑促性腺激素释放激素(GnRH)合成分泌障碍。根据遗传模式KS可分为X连锁、常染色体显性和隐性遗传。应重视儿科阶段KS的早期诊断,进一步探索小儿阶段的有效治疗策略。

Kallmann syndrome is characterized by isolated hypogonadotropic hypogonadism and anosmia or hyposmia. Mutations in the genes encoding anosmin-1 （KAL1）, fibroblast growth factor 1 （FGFR1）, and Prokineticin-2,/Prokineticin receptor-2 （PROK2/PROKR2） are involved in the pathogenetic mechanism. Three genetic modes including Xlinked, autosomal dominant and recessive forms are identified in the syndrome. The author emphasized the importance of early diagnosis of Kallnann syndrome and discussed current treatment strategies in children in this review.