21-羟化酶缺陷症临床分析

Clinical survey on 3 cases 21-hydroxylase deficiency

目的探讨21-羟化酶缺陷症的临床表现、诊断方法、治疗及转归。方法对2013年4月至2014年5月收治的3例21-羟化酶缺陷症患者的临床表现、诊断方法、治疗与转归进行分析。结果 3例患者中,男1例,表现为假性性早熟;女2例,表现假两性畸形,其中1例存在原发性闭经;影像学检查提示肾上腺增生;实验室检查提示血清睾酮增高,中剂量地塞米松抑制试验提示促肾上腺皮质激素、睾酮及黄体酮均可被抑制。确诊后给予补充肾上腺糖皮质激素治疗,1例因购药困难失访,2例治疗半年后随访,血清睾酮水平较前明显下降,1例女患者乳腺开始发育,出现月经来潮。结论 21-羟化酶缺陷症一般具有较典型的临床特征,确诊有赖于实验室检查,治疗的目的是补充患者自身分泌不足的糖皮质激素及盐皮质激素,抑制促肾上腺皮质激素及睾酮的分泌,以促使身体及骨骼正常发育。糖皮质激素首选氢化可的松,但是氢化可的松对促肾上腺皮质激素及睾酮的抑制作用较弱,当作用不理想时,可改为泼尼松。

Objective To investigate the clinical manifestations, diagnostic methods, treatment and prognosis of 21-hydroxylase deficiency. Method From 2013 April to 2014 May, 3 patients with 21-hydroxylase deficiency were enrolled, the clinical manifestations, diagnostic methods, treatment and prognosis of them was analyzed. Result Among these 3 patients, 1 case of male, show the pseudo precocious puberty, 2 cases of female, all show the pseudohermaphroditism, one of the female patients exists primary amenorrhea. Imageological diagnosis revealed adrenal hyperplasia. Laboratory tests revealed high levels of testosterone; mid-dose dexamethasone suppression test revealed adrenocorticotropic hormone（ACTH）, testosterone and progestin can be inhibited. After the diagnosis, the patients accept the glucocorticoid treatment. The therapeutic effect was observed at 6 months after the treatment. 1 case was lost in follow-up, while in the other 2 cases, the level of testosterone was significantly decreased after therapy, and 1 case of female patient showed the growth of mammary gland, and began to have menstruation. Conclusion 21-hydroxylase deficiency generally have typical clinical features, the diagnosis depended on laboratory tests, the aim of the treatment is to supplement the patients＇ lack of their own glucocorticoid and mineralocorticoid hormone, inhibit the secretion of ACTH and testosterone, to promote the normal development of the body and bone. Hydrocortisone is the first selection of glucocorticoid, but the inhibitory effect of hydrocortisone on ACTH and testosterone is relatively weak, so, when the effect of hydrocortisone is not satisfied, prednisone could be used.