由LHCGR基因杂合突变(M398T)所致家族性男性限性性早熟
【目的】 总结由LHCGR基因激活性杂合突变导致的家族性男性限性性早熟(FMPP),提高临床医生对该病的诊治水平?【方法】 报道3例经LHCGR基因突变分析确诊的FMPP病例,并对相关文献进行复习?【结果】 病例1和病例3均为5岁男童,因外生殖器增大伴生长加速来诊?经相关检查临床诊断为外周性同性性早熟,其中,病例1有明显的家族史,4代中有6人(包括病例1的父亲,即病例2)有类似病史,成年身高在155 ~ 164.5 cm?LHCGR基因检测发现3例均存在LHCGR基因第11外显子相同的杂合点突变:c ...
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Casarini L, Simoni M.
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Molecular characterization of the murine Leydig cell lines TM3 and MLTC-1. [PDF]
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Novel homozygous nonsense mutations in LHCGR lead to empty follicle syndrome and 46, XY disorder of sex development [PDF]
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Multi-omics atlas of ovarian cellular and molecular responses to diabetes. [PDF]
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Cultured bovine granulosa cells rapidly lose important features of their identity and functionality but partially recover under long-term culture conditions [PDF]
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Molecular Crosstalk Between Intrauterine hCG and Endometrial Receptivity: Signalling Pathways, Immune Modulation, and Translational Perspectives in IVF. [PDF]
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