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目的:探讨女性非经典型21-羟化酶缺陷症(21-OHD)的诊断及治疗方法。方法:回顾分析就诊于南京市妇幼保健院的1例女性非经典型21-OHD患者的临床资料和基因检测结果。结果:患者内分泌检查结果提示:血清雄激素水平、17-OHP和孕酮升高;血清电解质水平正常;基因诊断结果为非典型21-OHD单发突变(单纯型)。通过糖皮质激素治疗后成功妊娠并分娩。结论:女性非经典型21-OHD临床表型非特异性,易与多囊卵巢综合征(PCOS)混淆,故对高度可疑的患者应进行基因检测,以便早期诊断并给予恰当治疗。
Objective: To investigate the diagnosis and treatment of nonclassical 21-hydroxylase deficiency (21-OHD) in women. Methods: A retrospective analysis of one case of female nonclassical 21-OHD in Nanjing Maternal and Child Health Hospital clinical data and gene test results. Results: The results of endocrine examination showed that serum androgen levels, 17-OHP and progesterone were elevated, serum electrolyte levels were normal, and genetic diagnosis was atypical 21-OHD single mutation (simple type). After successful treatment of glucocorticoid pregnancy and childbirth. CONCLUSIONS: Female nonclassical 21-OHD clinical phenotypes are nonspecific and easily confused with polycystic ovary syndrome (PCOS). Therefore, genetic testing should be performed on highly suspicious patients for early diagnosis and appropriate treatment.