互为表亲的成人21羟化酶缺陷症二例诊治分析

目的总结21羟化酶缺陷症（21-hydroxylasedeficiency，210HD）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210HD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210HD（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210HD。2lOHD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。

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

Objective To summarize the main diagnostic points of 21-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 doctors for amenorrhea and external genitalia anomalism.Clinical manifestations in adulthood were sex infantilism and vulva virilism,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 symptoms were relieved after genitalia cosmetic surgery and hormone replacement therapy.Conclusion We should consider the possibility of 21-hydroxylase deficiency of the sex infantilism and pseudohermaphroditism in adult patients.21-hydroxylase deficiency diagnosis should be made according to the detection of 17 hydroxyprogesterone.Genitalia cosmetic surgery and hormone replacement therapy are preferred treatment strategies.