Zhao YaJing, Wang ChengYu, Guo ZiHong, Yi ChunXiu, Zhang Wen
Fuwai Cardiovascular Hospital of Yunnan Province, Kunming, Yunnan, China.
Heliyon. 2023 Mar 15;9(3):e14062. doi: 10.1016/j.heliyon.2023.e14062. eCollection 2023 Mar.
17α-hydroxylase deficiency (17OHD) is an autosomal recessive genetic disease characterized by low renin hypertension, abnormal sexual development, and reduced androgen levels. The morbidity rate of 17OHD is less than 1/10,000, and a lack of knowledge of this condition may lead to misdiagnosis and delayed treatment.
This is a case report of a patient suffering from hypertension who was diagnosed with 17OHD. The patient was misdiagnosed for more than 20 years. The patient presented with hypertension, hypokalemia, sexual infantilism, and delayed bone age. The patient had a 46, XY karyotype and a homozygous mutation of the CYP17A1 gene. The mutation site was c.1319G > A (p.Arg440His). After she took Nifedipine Sustained Release Tablets 30 mg once a day in the morning, her blood pressure dropped and is currently under control at about 145/95 mmHg.
With clinicians' increasing awareness of 17OHD, effective treatment based on early diagnosis should correct hypogonadism and avoid the cardiovascular and cerebrovascular complications of hypertension.
17α-羟化酶缺乏症（17OHD）是一种常染色体隐性遗传病，其特征为低肾素性高血压、性发育异常及雄激素水平降低。17OHD的发病率低于万分之一，对该病认识不足可能导致误诊及治疗延误。
本文报告一例高血压患者被诊断为17OHD的病例。该患者误诊长达20余年。患者表现为高血压、低钾血症、性幼稚及骨龄延迟。患者核型为46, XY，CYP17A1基因存在纯合突变。突变位点为c.1319G>A（p.Arg440His）。患者每日晨起服用一次30mg硝苯地平缓释片后，血压下降，目前血压控制在约145/95mmHg。
随着临床医生对17OHD认识的提高，基于早期诊断的有效治疗应纠正性腺功能减退，避免高血压的心脑血管并发症。
