17α-羟化酶/17,20-裂解酶缺陷症六例分析  

Study on six patients with 17α-hydroxylase/17,20-lyase deficiency

作　　者：刘亚萌 夏艳洁 李小英 栗夏莲[1] 余勤[1] 孙良阁[1] 秦贵军[1] 张会娟[1] Liu Yameng;Xia Yanjie;Li Xiaoying;Li Xialian;Yu Qin;Sun Liangge;Qin Guijun;Zhang Huijuan(Department of Endocrinology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450000,China;Department of Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450000,China)

机构地区：[1]郑州大学第一附属医院内分泌科,450000 [2]郑州大学第一附属医院产前诊断中心,450000

出　　处：《中华内分泌代谢杂志》2019年第10期825-828,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：目的提高对17α-羟化酶/17,20-裂解酶缺陷症(17OHD)的认识。方法回顾性分析6例17OHD患者的临床资料。结果2例完全缺陷型患者均表现为青春期第二性征不发育、原发性闭经、高血压、低血钾、高孕酮、低雌二醇、低雄激素、高促肾上腺皮质激素,基因突变类型分别为TAC329AA纯合突变、IVS1+2T>C和c.775_776delAT复合杂合突变;4例部分缺陷型患者均有孕酮升高,雌二醇低或偏低,睾酮低,硫酸脱氢表雄酮低或偏低,其中3例女性(46,XX)患者因不孕就诊,均有自发月经,其中2例借助辅助生殖技术成功受孕,4例患者均为TAC329AA杂合突变。结论TAC329AA突变在17OHD中很常见,单纯TAC329AA的杂合突变或纯合突变可能是决定这些患者表现为部分型还是完全型的基因分子基础。非妊娠期孕酮高伴雌二醇低或偏低、睾酮低、硫酸脱氢表雄酮低或偏低是部分型17OHD的突出特点,轻型患者可借助辅助生殖技术成功受孕。Objective To improve the understanding of 17α-hydroxylase/17,20-lyase deficiency(17OHD)disease.Methods The clinical data of six patients suffering from 17OHD were analyzed retrospectively.Results Two patients with complete combined defect had typical clinical presentations,including absence of secondary sexual characteristics,primary amenorrhea,hypertension,hypokalamia,lower gonadal hormone levels,as well as elevated corticotropin and progesterone levels.TAC329AA homozygous mutation,IVS1+2T>C,and c.775_776delAT complex heterozygous mutation were found in 2 cases.Four cases of partial combined defect showed high progesterone,lower gonadal hormones and dehydroepiandrosterone-sulfate levels.Three females(46,XX)showed spontaneous menstrual and primary infertility,and two of them got successful pregnancy with assisted reproductive technology.TAC329AA heterozygous mutation was found in those 4 cases.Conclusions TAC329AA mutation is common in 17OHD,and heterozygous or homozygous mutation of TAC329AA may be the genetic and molecular basis for determining whether these patients present as partial or complete defect.The elevated plasma progesterone in non-pregnancy combined with lower gonadal hormones and dehydroepiandrosterone-sulfate is the main character of patients with partial 17OHD.Less severe patients may be able to get successful pregnancy with assisted reproductive technology.

关 键 词：17α-羟化酶/17 20-裂解酶缺陷症 CYP17A1基因 孕酮 硫酸脱氢表雄酮 

分 类 号：R71[医药卫生—妇产科学]