21-羟化酶缺乏症11例临床分析并文献复习

Clinical Analysis and Literature Review of 11 Patients with 21-hydroxylase Deficiency

目的探讨21-羟化酶缺乏症(21-OHD)的临床特点、诊治方法及误诊原因、防范措施。方法对2015—2020年收治的21-OHD 11例的临床资料进行回顾性分析,并复习相关文献。结果本组11例,除2例未成年患儿外,余终身高均低于我国平均身高;10例女性均有不同程度阴蒂肥厚,8例有多毛等高雄激素症状;6例亚临床甲状腺功能减退。本组首诊外院7例,其中确诊2例,误诊4例,诊断不明1例;余4例起病即就诊我院,均确诊。误诊4例中,误诊为外阴畸形3例,真性性早熟1例。误诊时间4~14(9.50±4.56)年,诊断不明7年。本组均根据临床表现和实验室检查结果结合相关诊断标准确诊单纯男性化型21-OHD,根据患者具体情况选择糖皮质激素替代治疗,3例接受外科手术治疗。8例门诊随访3~6个月,病情均有不同程度缓解;3例失访,具体恢复情况不详。结论临床表现复杂多样,临床医生对其认识不足及缺乏诊治经验,基层医院缺乏相关检查设施是导致21-OHD误诊的主要原因。临床医生应提高对21-OHD认识和诊治水平,重视其早期筛查,以减少或避免该病误诊误治。

Objective To explore clinical features,diagnosed measures,misdiagnosed causes and preventive measures of patients with 21-hydroxylase deficiency(21-OHD).Methods Clinical data of 11 patients with 21-OHD admitted from 2015 to 2020 was retrospectively analyzed,and the relevant literature was reviewed.Results Among 11 patients in this group,except 2 juvenile children,the remaining patients were of below average height in our country;10 women had different degrees of clitoral hypertrophy,and 8 patients had high androgen symptoms such as hairiness;6 had subclinical hypothyroidism.In this group,7 patients were initially diagnosed in other hospitals,of whom 2 patients were diagnosed,4 patients were misdiagnosed,and 1 patient was unidentified;the remaining 4 patients presented to our hospital upon onset,and they were confirmed the diagnosis.Among the 4 misdiagnosed patients,3 patients were misdiagnosed as having vulvar deformities,and 1 patient as having true precocious puberty.The misdiagnosed duration was 4-14(9.50±4.56)years,and the diagnosis was unknown for 7 years.Patients in this group were diagnosed as having simple virilizing 21-OHD based on clinical manifestations and results of laboratory examination combined with relevant diagnostic criteria.Glucocorticoid replacement therapy was selected according to the specific conditions of the patients,and 3 patients received surgical treatments.Eight patients were followed up for 3 to 6 months in the Outpatient Department,and their conditions were relieved to varying degrees;3 patients were lost to follow-up,and the conditions of specific recovery were unknown.Conclusion Clinical manifestations of 21-OHD are complex and diverse.Clinicians with insufficient knowledge of the disease and lack of experience in diagnosis and treatment as well as lack of relevant testing facilities in primary hospitals are important reasons for misdiagnosis of 21-OHD.Clinicians should improve awareness,diagnosis and treatment of 21-OHD,and pay attention to its early screening so as to reduce or avoid misdiagnosis and treatment of the disease.