[Advances in the studies of Kallmann syndrome].
Kallmann syndrome (KS) is a rare hereditary disease. It is characterized by hypogonadotrophic hypogonadism in association with anosmia or hyposmia. At present, three modes of inheritance and genes related to KS have been identified. This review focuses on the clinical diagnosis and advances in the studies of the pathogenesis gene for Kallmann syndrome.
Hao
Li-jun
LJ
Laboratory of Reproduction and Genetics, Nanjing General Hospital, Nanjing command, PLA, Nanjing, Jiangsu 210002, China.
Cui
Ying-xia
YX
D003937:Diagnosis, Differential; D016326:Extracellular Matrix Proteins / Q000235:genetics; D006801:Humans; D017436:Kallmann Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D035583:Rare Diseases; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics
C076266:ANOS1 protein, human; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins; D051496:Receptor, Fibroblast Growth Factor, Type 1