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目的：在新生儿疾病筛查中，应用灵敏、特异性高，微量的方法筛查出先天性肾上腺皮质增生症（ＣＡＨ）。方法：应用时间分辨荧光免疫法检测出生３ 天的新生儿血滤纸片中１７α羟孕酮（１７αＯＨＰ） 。可疑病例再检测静脉血中１７αＣＨＰ、睾酮（Ｔ）、孕酮（Ｐ） 、雌二醇（Ｅ２） ，促肾上腺素（ＡＣＴＨ）、皮质醇（Ｆ） 及Ｋ、Ｎａ、Ｃｌ、Ｇｌｕ ，结合临床症状确诊本病。结果，通过以上方法在常规的新生儿疾病筛查中检出ＣＡＨ 病１ 例，并诊断与２１β羟化酶缺乏症。本病极易误诊，及时确诊为下一步治疗起到积极作用。本病例是我国新生儿筛查中ＣＡＨ 检出的首例报道。
Objective: To screen for congenital adrenal hyperplasia (CAH) by using sensitive, specific and trace methods in the screening of neonatal diseases. Methods: 17α OHP in neonatal blood filter paper was detected by time-resolved fluorescence immunoassay. In the suspected cases, 17αCHP, testosterone (T), progesterone (P), estradiol (E2), adrenaline (ACTH), cortisol (F) and K, Na, Cl, Symptoms confirmed the disease. As a result, one case of CAH disease was detected in the routine neonatal disease screening by the above method and was diagnosed with 21β-hydroxylase deficiency. The disease is extremely easy to misdiagnosis, timely diagnosis for the next step to play a positive role. This case is the first report of detection of CAH in neonatal screening in China.