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目的探讨新生儿期先天性肾上腺皮质增生症(CAH)的临床特点、诊断及治疗。方法选择2002年2月至2009年6月本院新生儿病房收治的CAH患儿,总结其临床表现、血钾、血钠、血17羟孕酮、睾酮、雌二醇及肾上腺B超等特点,进行诊断及分型,分析其激素治疗和预后情况。结果共收治20例CAH,21羟化酶缺乏失盐型11例,单纯男性化型9例。10例出现肾上腺危象。1例确诊后放弃治疗,余19例好转出院。随访10例,其中3例感染后病情加重,再次住院治疗;3例继续应用小剂量激素维持,感染后无明确病情加重;2例已停止应用激素,除皮肤黑外,其余生长发育均正常,感染后亦无病情加重;2例死亡。失访10例。结论新生儿期CAH以21羟化酶缺乏最为常见,易发生肾上腺危象,激素治疗有效,部分患儿是否不需终身服用激素值得探讨。
Objective To investigate the clinical features, diagnosis and treatment of congenital adrenal hyperplasia (CAH) in neonatal period. Methods From February 2002 to June 2009 our hospital neonatal ward admitted to children with CAH, summary of its clinical manifestations, serum potassium, serum sodium, blood 17-hydroxy progesterone, testosterone, estradiol and adrenal B- , Diagnosis and classification, analysis of hormone therapy and prognosis. Results A total of 20 cases of CAH were treated, 21 cases of salt deficiency in 21 hydroxylase deficiency in 11 cases, simple masculine in 9 cases. Adrenal crisis occurred in 10 cases. One case gave up treatment after diagnosis, more than 19 cases were discharged. 3 cases were infected after hospitalization again; 3 cases continue to use small doses of hormone maintenance, no clear disease after infection aggravating; 2 cases have stopped the application of hormones, except the skin black, the rest of the growth and development are normal, After infection, no aggravation; 2 deaths. Lost to 10 cases. Conclusion In neonatal period, CAH is the most common cause of 21-hydroxylase deficiency. Adrenal crisis may occur easily. Hormone therapy is effective. It is worth discussing whether some children need to take the hormone for a long time.