互为表亲的成人21羟化酶缺陷症二例诊治分析  

Diagnosis and Treatment Analysis of 2 Adult Patients(Cousins) of 21 Hydroxylase Deficiency

作　　者：赵露茜[1] 许卫国[2] 

机构地区：[1]广州市第一人民医院老年病科,广州510180 [2]广州军区广州总医院内分泌科,广州510023

出　　处：《临床误诊误治》2012年第5期54-56,共3页Clinical Misdiagnosis & Mistherapy

摘　　要：目的总结21羟化酶缺陷症(21-hydroxylase deficiency,21OHD)的诊治要点,提高其诊断水平。方法回顾性分析2例互为表亲的成人21OHD的临床资料,并复习相关文献。结果 2例社会表型均为女性,皆以闭经、外生殖器异常就诊。成年后表现为性幼稚、外阴男性化,不伴高血压和电解质紊乱,经激素、染色体核型分析等检查确诊为21OHD(单纯男性化型)、女性假两性畸形,经生殖器整形手术及糖皮质激素替代治疗后,临床症状好转。结论对于性幼稚、假两性畸形的成年患者,诊断时应考虑到21OHD。21OHD诊断有赖于17羟孕酮测定,生殖器整形手术和激素替代治疗是其主要治疗策略。Objective To summarize the main diagnostic points of 2l-hydroxylase deficiency and improve the diagnostic level. Methods Retrospective analysis of clinical data of 2 patients who were cousins with 21-hydroxylase deficiency were made, and the pertinent literatures were reviewed. Results The 2 patients＇social phenotypes were female, who had visited doc- tors for amenorrhea and external genitalia anomalism. Clinical manifestations in adulthood were sex infantilism and vulva viri- lism, not accompanied with high blood pressure and electrolyte imbalance. After hormone and karyotype analysis, the patients were confirmed as having 21-hydroxylase deficiency （simple virilizing） and female pseudohermaphroditism. The clinical symp- toms were relieved after genitalia cosmetic surgery and hormone replacement therapy. Conclusion We should consider the pos- sibility of 21-hydroxylase deficiency of the sex infantilism and pseudohermaphroditism in adult patients. 21-hydroxylase deficien- cy diagnosis should be made according to the detection of 17 hydroxyprogesterone. Genitalia cosmetic surgery and hormone re- placement therapy are preferred treatment strategies.

关 键 词：肾上腺皮质 增生 类固醇21-羟化酶 代谢缺陷 先天性 

分 类 号：R586.9[医药卫生—内分泌]