短期GnRH脉冲治疗对先天性低促性腺激素性性腺功能减退症青少年期男性患者垂体⁃睾丸功能的作用

王斐, 龚艳, 许丽雅, 刘庆旭, 李妍, 郭盛, 李嫔

Effect of short-term GnRH pulse therapy on pituitary-testicular function in adolescent male patients with congenital hypogonadotropic hypogonadism

WANG Fei, GONG Yan, XU Liya, LIU Qingxu, LI Yan, GUO Sheng, LI Pin

表1 14例CHH患者的基因突变

Tab 1 Gene variants in 14 CHH patients

Gene Inheritance Variant Amino acid Type of variant Pathogenicity Source of variant FGFR1 AD c.1695_1696 insT p.Lys566Ter Heterozygous P De novo FGFR1 AD c.25G>A p.Gly9Ser Heterozygous VUS Mother FGFR1 AD c.761G>A p.Arg254Gln Heterozygous LP Father FGFR1 AD c.963dupA p.Glu322Argfs*13 Heterozygous P De novo FGFR1 AD c.350A>G p.Asn117Ser Heterozygous VUS Mother FGFR1 AD c.580G>T p.Gly194Cys Heterozygous VUS De novo FGFR1 AD c.1981C>T p.Arg661* Heterozygous P De novo ANOS1 XLR c.1267C>T p.Arg423* Hemigygote P Mother ANOS1 XLR c.1897C＞T p.Arg631Ter Hemigygote P Mother ANOS1 XLR c.1525delA p.Ser509Valfs*40 Hemigygote P De novo ANOS1 XLR c.463A>G p.Asn155Asp Hemigygote VUS De novo PROKR2 AD c.991G>A p.Val331Met Heterozygous VUS Mother PROKR2 AD c.533G>C p.Trp178Ser Heterozygous VUS De novo PROK2 AD c.223-4C>A Unknown Heterozygous VUS De novo