经典型类固醇21-羟化酶缺乏症86例临床诊治分析

Clinical charateristics of 86 cases of classical 21-hydroxylase deficiency

目的探讨经典型类固醇21-羟化酶缺乏症（21-OHD）患者的临床特点。方法回顾性分析86例经典型21-OHD患者的临床特点、实验室检查及治疗方法。结果86例患者中，失盐型64例（74．42％），单纯男性化型22例（25．58％），常见症状为色素沉着及高雄激素的临床表现。86例患者血17-羟孕酮（17-OHP）、血雄烯二酮（AN）均增高，仅28．85％的患者皮质醇低下，84．00％脱氢表雄酮增高。出院时46例患者采用糖皮质激素与盐皮质激素联合治疗，28例患者采用氢化可的松单药治疗，5例成年患者采用地塞米松治疗。结论经典型21-OHD患者主要为失盐型，多在婴幼儿期发病且症状较重易被诊断；单纯男性化型发病年龄跨度大，诊断易被延误。皮肤色素沉着、高雄激素血症是经典型21-OHD的主要临床表现。血17-OHP、AN在21-OHD的诊断中敏感性高于皮质醇和脱氢表雄酮。糖皮质激素替代治疗是主要治疗方法，剂量需要个体化，避免用量过度。

Objective To analyze the clinical features of classical 21-hydroxylase deficiency （21-OHD） in order to improve the diagnosis and therapy of this disorder. Methods The clinical features ,laboratory tests and treatments of 86 cases of 21-OHD were ananlyzed retrospectively. Results In 86 patients ,64 cases（74.42% ） were salt-wasting（SW） type and 22 cases（25.58% ） were simplevirilizing（SV） type. The most frequent features were hyperpigmentation and signs of androgen excess. All patients had elevated blood levels of 17-hydroxyprogesterone and androstenedione. 28.85% of the patients had low serum cortisol, and 84.00% of the patients had elevated plasma dehydroepiandrosterone sulfate levels. Hydrocortisone （HC） combined with fludrocortisone had been used in 46 patients while HC monotherapy had been used in 28 patients. In adult patients with SV, dexamethasone was used in five patients. Conclusion Classical 21-OHD cases were mainly SW, and the diagnosis of SW may be easy because of the severe symptoms and early onset in infancy. The age span of disease onset of patients with SV was large ,so the diagnosis may be delayed or missed. The patients with 21-OHD have main clinical symptoms such as hyperpigmentation and androgen excess. Serum 17-hydroxyprogesterone and androstenedione levels are more sensitive than serum cortisol and dehydroepiandrosterone sulfate levels for diagnosing 21-OHD. The specific treatment of glucocorticoid replacement therapy should be individualized and directed towards treating the symptoms.