完全型17α羟化酶缺乏48例临床分析

摘要

目的 总结完全型17α羟化酶缺乏患者的临床表现、实验室检测结果特征,尤其是血清孕酮水平的变化,为临床提供简单、有效的诊断线索.方法 回顾性分析北京协和医院自1983年1月至2010年1月期间收治的48例完全型17α羟化酶缺乏患者的临床资料及实验室检测结果.结果 48例完全型17α羟化酶缺乏患者中,12例外周血染色体核型为46,XX,36例核型为46,XY.核型为46,XX及46,XY患者的主要临床表现及实验室检测结果特征有:无月经初潮[12/12,100％ (36/36)]、无第二性征的发育[12/12,13.9％(5/36)]、高血压[11/12,100％( 36/36)]、低血钾[(2.6±0.7)、(2.8±0.7) mmol/L]、高促性腺激素[卵泡刺激素(FSH)水平分别为(51±35)、(79±46) U/L,黄体生成素(LH)水平分别为( 27±14)、(49±37) U/L]、低睾酮及雌激素(睾酮水平分别为0.003、0.005 nmol/L,雌二醇水平分别为26.86、10.64 pmol/L)、高孕酮[(32±15)、(29±23) nmol/L]、低17α羟孕酮[(2.5±1.1)、(2.4±1.7) nmol/L]、高ACTH(91.8、114.0 pmol/L),ACTH兴奋试验提示17α羟孕酮及血皮质醇水平无明显升高.结论 当有临床症状,且随机血清孕酮水平高于排卵期血清孕酮水平时,应进一步检查是否患有17α羟化酶缺乏.%Objective To investigate efficient diagnosis and treatment of 17α-hydroxylase (17OHD) deficiency by summarizing clinical characteristics of those patients.Methods From January 1983 to January 2010,48 cases with 17OHD in Peking Union Medical College Hospital were studied retrospectively.Results Among 48 patients with 17OHD,karyotype analysis showed,12 cases with 46,XX and 36 cases with 46,XY.The 46,XX karyotype and 46,XY karyotype with complete 17OHD had typical clinical presentation of amenorrhea [ 12/12,100％ ( 36/36 ) ],no typical spontaneous puberty [ 12/12,13.9％ (5/36) ],Hypertension [ 11/12,100％ ( 36/36 ) ],hypokalemia [ K +:( 2.6 ± 0.7 ),( 2.8 ± 0.7 )mmol/L],hypergonadotropin [ follicle-stimulatinghormone ( FSH ):( 51 ± 35 ),( 79 ± 46 ) U/L,luteinizing hormone( LH ):( 27 ± 14 ),(49 ± 37 ) U/L ],impaired production of sex hormones [ testosterone(T):0.003,0.005 nmol/L; estradiol ( E2 ):26.86,10.64 pmol/L ],hyper-progesterone [ (P):( 32 ± 15 ),( 29 ± 23) nmol/L],impaired production of 17α-hydroxyprogesterone ( 17α-OHP ) [ ( 2.5 ± 1.1 ),( 2.4 ±1.7) nmol/L],ACTH hypersecreation (91.8,114.0 pmol/L).ACTH stimulating test did not elevated in 17α-OHP and cortisol.Conclusion When patients with elevated basal serum levels of progesterone higher than that of ovulation period in addition to clinical symptoms,examination about 17OHD should be warranted.