17α-羟化酶/17,20-裂解酶缺陷症致先天性肾上腺皮质增生病例分析  

17α-hydroxylation/17, 20-lyase Deficiency: Two Siblings Case Reports and Literature Review

作　　者：包艳[1] 易波[1] 王晔 文重远[1] BAO Yan;YI Bo;WANG Ye;WEN Zhong-yuan(Department of Endocrinology,Renmin Hospital of Wuhan University,Wuhan 430060,China)

机构地区：[1]武汉大学人民医院内分泌科,武汉430060

出　　处：《微循环学杂志》2022年第4期42-46,共5页Chinese Journal of Microcirculation

摘　　要：目的:分析同一家系共患17α-羟化酶/17,20-裂解酶缺陷症(17α-hydroxylation/17,20-lyase deficiency,17OHD)两“姐妹”的临床表现和家系分析,并结合国内外文献报道总结该病的特点,以提高临床医生对其认识。方法:分析两例17OHD“姐妹”的临床表现、实验室和影像学检查结果,采集患者及其父母亲外周血,进行染色体核型分析和CYP17A1基因序列分析,使用Sanger测序法进行一代验证和家系验证。结果:两“姐妹”的临床表现各异。先证者(染色体核型为“46XY”)表现为难以控制的高血压、低血钾,伴有第二性征发育异常;先证者姐姐(染色体核型为“46 XX”)则以“月经紊乱”为首发症状,随着病程进展才逐渐出现轻度血压增高。实验室检查显示两者ACTH、孕酮水平均增高,醛固酮水平正常。两“姐妹”CYP17A1基因第8外显子均存在c.1283C>T(p.Pro428Leu)纯合突变,导致第428位脯氨酸变异为亮氨酸。结论:17OHD患者临床表现复杂,对疑似患者尽早行基因检测以明确诊断。Objective:To explore the clinical features and genetic diagnosis of two“sisters”with 17α-hydroxylation/17,20-lyase deficiency(17OHD)in the same family.Method:The clinical manifestation and laboratory examination results of the two"sisters"with 17OHD were analyzed retrospectively and the related literature review was conducted.The peripheral blood DNA of the two patients and their parents was extracted.After the CYP17A1 gene had been amplified,the gene sequencing was performed and the Sanger sequencing was used for verification.Results:Both the two"sisters"carried homozygous variant C.1283c>t(p.Pro428Leu)in the exon 8 of CYP17A1 gene,which led to substitution of proline by leucine.However,their clinical manifestations were quite different.The proband with the 46XY karyotype presented as hypertension,hypokalemia,disorder of sexual development.The elder sister with the 46XX karyotype presented as sparse menstruation and dysplasia of the second sexual characteristics,only accompanied by mild increase in blood pressure.Laboratory examinations showed that the serum levels of ACTH and progesterone were elevated,whereas the aldosterone levels were normal in both cases.Conclusion:The clinical manifestations of 17OHD patients are complex.Genetic testing should be performed as soon as possible for suspected patients to confirm the diagnosis.

关 键 词：17α-羟化酶/17 20-裂解酶缺陷症 CYP17A1基因 先天性肾上腺增生症 

分 类 号：R586.9[医药卫生—内分泌]