21-羟化酶缺陷症导致睾丸发育不良的病例分析  

Clinical report of testicular h ypoplasia combined with 21-hydroxylase deficiency

作　　者：蒋波[1] 马定远[2] 陈欢欢[3] 杨晓玉[4] 崔毓桂[4] 许争峰[2] 刘嘉茵[4] 

机构地区：[1]广西壮族自治区南溪山医院生殖中心,广西桂林541002 [2]南京医科大学附属南京妇幼保健院产前诊断中心,210029 [3]南京医科大学第一附属医院内分泌科,210029 [4]南京医科大学第一附属医院生殖中心,210029

出　　处：《中华医学遗传学杂志》2018年第1期29-33,共5页Chinese Journal of Medical Genetics

基　　金：江苏省科技厅项目（BL2012009）

摘　　要：目的探讨21-羟化酶缺陷症与男性睾丸发育不良的关系。方法回顾分析8例男性不育患者的临床资料及其21-羟化酶基因的检测结果，总结其临床特征及治疗经验。结果8例患者均表现为小睾丸（单侧睾丸平均体积为6．1mL），精液分析提示为无精或严重少精症。性激素检测卵泡刺激素、黄体生成素明显低于正常，睾酮正常或偏高，孕酮明显升高，促肾上腺皮质激素正常或偏高，皮质醇正常或偏低。3例伴睾丸肾上腺残余肿瘤。CT检查提示肾上腺皮质增生，5例呈腺瘤改变，1例呈肾上腺髓脂肪瘤。所有患者均给予地塞米松替代治疗。治疗3～6个月后，6例出现精子或精子浓度升高，5例的配偶成功妊娠。在8例患者中，共发现7个已知致病突变。结论21一羟化酶缺陷症可导致男性睾丸不发育并损害生精功能，通过手术和地塞米松替代治疗可以取得良好的疗效。8例患者均为21-羟化酶基因复合杂合突变，均携带导致男性化表型的P．Ilel72Asn致病突变。Objective To investigate the correlation of 21-hydroxylase deficiency （21-OHD） with male testicular dysplasia. Methods Clinical data of 8 infertile males with congenital adrenal hyperplasia due to 21-OHD was retrospectively analyzed. In addition, potential mutations of the CYP21A2 gene was detected. Results All patients were referred because of azoospermia or severe oligospermia and had small testis with averaged testicular volume of 6. 1 mL. Three patients had testicular adrenal rest tumors. Endocrinologic examinations revealed low levels of leutinizing hormone and follicular stimulating hormone, normal or elevated testosterone, elevated progesterone, elevated or normal adrenocoticotropic hormone, and low or normal cortisol. All patients had adrenal cortical hyperplasia, 5 with adrenal adenoma, 1 case associated with bilateral adrenal myelolipoma. All patients were given glucocorticoid replacement therapy for 3 to 6 months, which successfully improved the seminal status of 6 patient and resulted pregnancies in 5 couples. Seven pathogenic mutations of the CYP21A2 gene among the 8 patients. Conclusion 21-OHD can cause testicular hypoplasia and spermatogenic failure. Glucocorticoids and operations can obtain good result and improve spermatogenesis. Our results have shown a good genotype/phenotype correlation in these cases. All patients have carried the p. Ile172Asn mutation, which is associated with simple virilizing form.

关 键 词：先天性肾上腺皮质增生症 21-羟化酶缺乏症 睾丸发育不良 

分 类 号：R698.2[医药卫生—泌尿科学]