Clinical and molecular characterization of thirty Chinese patients with congenital lipoid adrenal hyperplasia
The Journal of Steroid Biochemistry and Molecular Biology(2021)
摘要
•Thirty LCAH patients and four novel mutations were collected. c.772C > T probably reflects founder effect.•A good genotype-phenotype correlation was observed. More than 20 % of residual STAR activity may be responsible for non-classic LCAH.•We consider that onset age was affected by multiple factors and masculinization is the main weighting factor for diagnosis of non-classic LCAH.•Genetic 46,XX LCAH patients dominate our study cohort, maybe detailed inspections could reduce such bias.
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关键词
Congenital lipoid adrenal hyperplasia (LCAH),Steroidogenic acute regulatory protein (STAR),Enzymatic activity,Genotype-phenotype correlation,Pubertal development,Proportion of karyotype distribution
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