我们应该筛查先天性肾上腺增生症吗？117例病例回顾。
Should we screen for congenital adrenal hyperplasia? A review of 117 cases.
作者信息
Virdi N K, Rayner P H, Rudd B T, Green A
出版信息
Arch Dis Child. 1987 Jul;62(7):659-62. doi: 10.1136/adc.62.7.659.
A total of 117 patients with congenital adrenal hyperplasia who were under the care of paediatricians at Birmingham Children's Hospital between 1958 and 1985 were reviewed retrospectively. There were 47 boys (40%) and 70 girls (60%); 30 of the 47 boys (64%) and 38 of the girls (58% of the 66 whose salt state was known) were salt losers. In all salt losers the condition was diagnosed before the age of 6 months, 90% of the diagnoses being made during the first month. The ratio of boys to girls, the distributions of salt losers to non-salt losers, and the age at diagnosis were studied in relation to the year of birth. Early diagnosis was found to be more common in children born after 1970 due partly to the introduction of a method of assaying the concentration of 17 alpha-hydroxyprogesterone in serum, partly to an increase in the number of paediatricians in the West Midlands, and partly to the appointment of a paediatric endocrinologist. A neonatal screening programme does not seem to be necessary.
对1958年至1985年间在伯明翰儿童医院接受儿科医生治疗的117例先天性肾上腺皮质增生症患者进行了回顾性研究。其中有47名男孩（40%）和70名女孩（60%）；47名男孩中有30名（64%），女孩中有38名（已知盐代谢状态的66名女孩中的58%）为失盐型。所有失盐型患者在6个月前确诊，90%的诊断在第一个月内做出。研究了男孩与女孩的比例、失盐型与非失盐型的分布以及诊断年龄与出生年份的关系。发现1970年后出生的儿童中早期诊断更为常见，部分原因是采用了一种检测血清中17α-羟孕酮浓度的方法，部分原因是西米德兰兹地区儿科医生数量增加，部分原因是任命了一名儿科内分泌学家。新生儿筛查项目似乎没有必要。
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