Witchel S F, Nayak S, Suda-Hartman M, Lee P A
Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, Pennsylvania, USA.
J Pediatr. 1997 Aug;131(2):328-31. doi: 10.1016/s0022-3476(97)70178-1.
Blood samples for plasma steroid hormone determinations and molecular genotype analysis of the 21-hydroxylase gene (CYP21) were obtained from 15 infants identified through a voluntary newborn screening program. Mutations were identified on both CYP21 alleles in 12 (80%) of 15 infants; all had confirmatory plasma 17-hydroxyprogesterone concentrations > 3500 ng/dl. No patient was found to carry mutations associated with late-onset 21-hydroxylase deficiency. Newborn screening hastened diagnosis in eight infants.
从通过自愿新生儿筛查项目确定的15名婴儿中采集血样，用于血浆类固醇激素测定和21-羟化酶基因（CYP21）的分子基因型分析。15名婴儿中有12名（80%）在两个CYP21等位基因上均发现了突变；所有婴儿血浆17-羟孕酮浓度均证实>3500 ng/dl。未发现携带与迟发性21-羟化酶缺乏相关突变的患者。新生儿筛查使8名婴儿的诊断得以提前。
