目的总结先天性肾上腺皮质增生症(CAH)患儿的临床症状、检查结果及治疗方法,探讨CAH的早期诊断和氢化可的松的治疗效果。方法回顾性分析2006年2月-2010年8月诊断为CAH的14例住院患儿,总结其主要临床表现、实验室检查结果和影像学特点,比较患儿身高、体质量、头围等生长发育指标,探讨其皮质醇分泌节律及皮质醇水平与血清电解质的相关性,并评价氢化可的松对CAH患儿电解质紊乱的治疗效果。采用SPSS 13.0软件进行统计学分析。结果 14例CAH患儿主要临床表现为脱水、拒食、呕吐、腹泻、营养不良和体质量下降,12例出现外生殖器发育异常,10例伴色素沉着。患儿在出生第1年逐渐出现生长发育不良,体质量、头围增加明显落后于身高。在CAH的常见亚型———21-羟化酶缺乏症失盐型患儿中,1600血清皮质醇水平与血清钠离子水平呈负相关(r=-0.83,P<0.05),与血清钙离子水平呈正相关(r=0.93,P<0.05)。静脉滴注氢化可的松可改善患儿的低钠血症(t=2.98,P<0.05)、高钾血症(t=6.23,P<0.01)及失盐型患儿的低氯血症(t=2.60,P<0.05)。结论 CAH患儿的临床表现不典型,容易误诊。患儿的体质量、头围是反映其生长发育滞后的重要指标。失盐型患儿的皮质醇水平与血清电解质水平相关。氢化可的松是治疗CAH的有效药物。 Objective To summarize the clinical symptoms, examination results and treatment of children with congenital adrenal hyperplasia (CAH) and to explore the early diagnosis of CAH and the therapeutic effect of hydrocortisone. Methods A total of 14 hospitalized children diagnosed with CAH from February 2006 to August 2010 were retrospectively analyzed. The main clinical manifestations, laboratory findings and imaging features were compared. The height, body weight and head circumference of the children were compared Developmental index, to explore its cortisol secretion rhythm and cortisol levels and serum electrolytes correlation, and evaluate hydrocortisone in children with CAH electrolyte imbalance treatment. SPSS 13.0 software was used for statistical analysis. Results The main clinical manifestations of 14 children with CAH were dehydration, antifeedant, vomiting, diarrhea, malnutrition and weight loss. Twelve cases had abnormal external genitalia and 10 cases had pigmentation. Children in the first year of birth gradually appear poor growth and development, body weight, head circumference increased significantly behind the height. In the common subtypes of CAH, the level of cortisol at 1600 was negatively correlated with the level of serum sodium (r = -0.83, P <0.05) in children with loss of salt of 21-hydroxylase deficiency Serum calcium levels were positively correlated (r = 0.93, P <0.05). Intravenous hydrocortisone improved hyponatremia in children (t = 2.98, P <0.05), hyperkalemia (t = 6.23, P <0.01) (t = 2.60, P <0.05). Conclusion The clinical manifestations of children with CAH are not typical, easily misdiagnosed. Children’s body mass, head circumference is an important indicator to reflect the lag of its growth and development. Cortisol levels in children with loss of salt correlate with serum electrolyte levels. Hydrocortisone is an effective drug for the treatment of CAH.