Clinical Characteristics，Diagnosis and Treatment of 17α-hydroxylase Deficiency：Analysis of Two Adults

doi:10.12114/j.issn.1007-9572.2020.00.571

Abstract

Abstract: Objective　To analyze the clinical characteristics，diagnosis and treatment of two adults with 17α-hydroxyase deficiency，expecting to improve clinicians' recognition of this disease.Methods　Clinical data of two adults with 17α-hydroxyase deficiency admitted to the Department of Endocrinology，the General Hospital of Western Theater Command in 2013 and 2019，respectively，were collected.Clinical manifestations and diagnostic and therapeutic process were analyzed in detail.Results　The two patients were female in terms of social gender role，aged 24 and 31，respectively.Although their clinical manifestations in adulthood had some differences，they showed various degrees of hypokalemia，hypertension，abnormal sexual development and sexuality，and adrenal hyperplasia.Gene sequencing revealed that both of them had two heterozygous mutations in CYP17A1 gene，with CYP17A1：c.1459_c.1467delGACTCTTTC as the common variation site.The karyotypes of chromosomes were 46XX and 46XY by chromosome karyotype detection，respectively.Both of them were relieved after glucocorticoid treatment.Conclusion　17α-hydroxylase deficiency has a low morbidity，and its clinical features may present certain degrees of variations in adult patients.Early diagnosis and treatment can improve the adulthood quality of life，thus clinicians should improve the levels of early diagnosis and differential diagnosis of the disease.

Key words: Adrenal hyperplasia, congenital；Steroid 17-alpha-hydroxylase；17α-hydroxylase deficiency；Adults；Disease attributes；Diagnosis；Therapy

摘要： 目的　分析2例成年17α羟化酶缺陷症患者的临床特征及诊疗经过，以增强临床医生对该病的认识。方法　收集西部战区总医院内分泌科分别于2013年、2019年收治的2例成年17α羟化酶缺陷症患者的临床资料，分析其临床特征及诊疗经过。结果　2例患者社会性别均为女性，年龄分别为24、31岁，成年后临床表现具有一定异质性，但均存在不同程度的低钾血症、高血压、性腺发育及性征异常、肾上腺增生；基因测序发现2例患者CYP17A1存在2处杂合突变，其中共同变异位点为CYP17A1：c.1459_c.1467delGACTCTTTC；染色体核型检测发现2例患者染色体核型分别为46XX、46XY。2例患者经糖皮质激素治疗后症状缓解。结论　17α羟化酶缺陷症发病率低，成年后临床表现具有一定异质性，早期诊断、早期治疗可改善患者成年后生活质量，临床医生应提高对该病的早期诊断、鉴别诊断水平。

关键词: 肾上腺增生, 先天性, 类固醇17-&alpha, -羟化酶, 17&alpha, 羟化酶缺陷症, 成年人, 疾病特征, 诊断, 治疗

LIU Junjing,REN Li,ZHANG Wei, et al. Clinical Characteristics，Diagnosis and Treatment of 17α-hydroxylase Deficiency：Analysis of Two Adults 　[J]. Chinese General Practice, 2021, 24(9): 1140-1143. DOI: 10.12114/j.issn.1007-9572.2020.00.571.
刘君静,任丽,张卫等. 成年17α羟化酶缺陷症二例临床特征及诊疗分析[J]. 中国全科医学, 2021, 24(9): 1140-1143. DOI: 10.12114/j.issn.1007-9572.2020.00.571.

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