摘要
目的分析19例21羟化酶缺陷症(21OHD)患者的临床和随访资料,提高该病的诊断和治疗水平。方法全面收集患者临床、基础激素测定、影像学以及规律治疗和随访的资料,对比治疗前后临床症状和各项检测指标的改变。结果所有患者临床表现均为单纯男性化型。其中男性患者(n=3)表现为第二性征发育提前出现,平均出现年龄(9.3±2.8)岁,阴茎异常增大;女性患者(n=16)“原发性闭经”占87.5%,阴蒂肥大,并存在不同程度的阴唇融合。17羟孕酮(17OHP)平均水平达(63.42±35.07)μg/L,促肾上腺激素、去氢表雄酮和睾酮水平均明显升高。肾上腺CT增强扫描发现双侧肾上腺增生或腺瘤。经肾上腺皮质激素替代治疗后,患者临床症状均有改善。17OHP水平降至(3.15±2.71)μg/L(P<0.01),T、DHEAS和ACTH水平均显著下降(P<0.01)。结论单纯男性化型21OHD女性患者,原发性闭经仍是最常见主诉;而17OHP对于该型的诊断及疗效的观察均有重要意义。
Objective Clinical data of 19 Chinese patients with 21 hydroxylase deficiency （21OHD） were analyzed to improve the diagnosis and treatment level. Methods Clinical features and laboratory data were collected from 19 patients with 21OHD before and after treatment. Results In male patients, the average age of early appearance of secondary sexual character was （9.3± 2.8）yrs, and excess androgen resulted in phallic enlargement. Primary amenorrhea was the most common complaint in female（87.5% ）, and the signs included a varying degree of labioscrotal fusion and clitoral enlargement. The average level of 17-hydroxy progesterone （17OHP） was （63.42± 35.07） p,g/L, and adrenocorticotrophic hormone （ ACTH）, dehydroepiandrosterone （sodium） sulfate （DHEAS） and testosterone （T） were obviously elevated. CT scan showed bilateral adrenal hyperplasia. The level of 17OHP was significantly decreased after treatment[ （63.42± 35.07） μg/L vs （3.15± 2.71 ）μg/L] （P 〈 0.01 ）. T, DHEAS and ACTH were also de- creased significantly（P 〈0.01）. Conclusion In female patients with simple virilizing form of 21OHD, primary amenorrhea was the most common complaint, and 17OHP is a good index to the diagnosis and prognosis of the disease.
出处
《上海交通大学学报（医学版）》
CAS
CSCD
北大核心
2006年第1期10-12,共3页
Journal of Shanghai Jiao tong University:Medical Science
基金
上海市教委重点学科基金(E03007)资助项目
关键词
先天性肾上腺增生
21羟化酶缺陷症
17羟孕酮
congenital adrenal hyperplasia
21 hydroxylase deficiency
17-hydroxy progesterone
