Advances in Genetic Study of Kallmann Syndrome
LIU Meng-ying
WU Ling-qian
Abstract：Kallmann syndrome (KS) is a complicated human genetic disorder with congenital hypogo-nadotropic hypogonadism (HH) and anosmia or hyposmia. It is also a genetically and clinically heterogeneous disease. Eighteen genes were found to be related to KS,including KAL1,FGFR1,PROKR2,PROK2,CHD7, FGF8,WDR11,NELF,HS6ST1,SEMA3A,HESX1,SOX10,IL17RD,FGF17,SPRY4,DUSP6,FLRT3 and AXL. However,only six genes (KAL1,FGFR1,PROKR2,PROK2,CHD7 and FGF8) were identified, which covered approximately 30% of the KS cases. Actually, genic mutations in about 70% of KS cases were unknown. The clinical assessment and genetic aspects of KS, as well as its partial reversibility and early diagnosis, were hereby reviewed.
Keywords：Kallmann syndromeMolecular biologyPhenotypeGenetic heterogeneityDiagnosis
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 186-190 )