CYP17A1基因纯合突变致17α-羟化酶/17,20碳链裂解酶缺陷症1例报道  

A Case Report of 17α-Hydroxylase/17,20-Lyase Deficiency Caused by Homozygous Mutation of CYP17A1 Gene

作　　者：庞月文 闫永吉[1] 成海生[1] 李琰峰[1] 李培哲 贺爽 韩思宇 刘河漾 钟然 赵世雨 杨连君 巩会杰[1] Pang Yuewen;Yan Yongji;Cheng Haisheng;Li Yanfeng;Li Peizhe;He Shuang;Han Siyu;Liu Heyang;Zhong Ran;Zhao Shiyu;Yang Lianjun;Gong Huijie(Department of Urology,Dongzhimen Hospital,Beijing University of Chinese Medicine,Beijing 100700,China;Department of Pathology,Dongzhimen Hospital,Beijing University of Chinese Medicine,Beijing 100700,China)

机构地区：[1]北京中医药大学东直门医院泌尿外科,北京100700 [2]北京中医药大学东直门医院病理科,北京100700

出　　处：《微创泌尿外科杂志》2025年第1期49-54,共6页Journal of Minimally Invasive Urology

基　　金：纵向科研发展基金项目(2024-JYB-900701-041)。

摘　　要：目的:分析1例CYP17A1基因纯合突变致17α-羟化酶/17,20碳链裂解酶缺陷症(17OHD)患者的临床特征及治疗。方法:回顾性分析1例CYP17A1基因纯合突变致17OHD患者的临床资料、实验室检查、影像学结果、基因检测及治疗方案。结果:本例患者临床表现为高血压伴低血钾、假两性畸形、第二性征发育不良,实验室检查提示皮质醇、睾酮、雌二醇水平降低,促肾上腺皮质激素、卵泡刺激素水平升高。骨密度检查提示髋关节和腰椎骨质疏松。左手腕X线正位提示骨龄发育延迟。超声检查提示双侧腹股沟管内环口髂血管旁低回声结节,盆腔区域未见子宫及卵巢样结构。肾上腺CT平扫提示左侧肾上腺局部增粗。腹盆增强CT提示双侧腹股沟区髂外动脉前方见低密度结节,增强扫描可见轻度延迟强化,隐睾可能,子宫及卵巢未见。患者的染色体核型为46,XY,基因检测结果显示CYP17A1基因发生了纯合突变。治疗方面,患者口服糖皮质激素及雌激素替代治疗,并采取降压保钾措施。同时行腹腔镜探查及双侧隐睾切除术,术后组织病理结果提示为发育不良的睾丸。结论:临床上对于第二性征不发育、性激素水平低下、高血压伴低血钾患者,应考虑17OHD可能,应行染色体及基因检测明确诊断。男性患者若伴有隐睾,建议尽早切除,防止恶变。Objective:To analyze the clinical features and treatment of a patient with 17α-hydroxylase/17,20-ly-ase deficiency(17OHD)caused by a homozygous mutation in the CYP17A1 gene.Methods:A retrospective review was conducted of the clinical data,laboratory results,imaging findings,genetic testing,and treatment plan of a pa-tient diagnosed with 17OHD due to a homozygous CYP17A1 gene mutation.Results:The patient presented with hy-pertension,hypokalemia,pseudohermaphroditism,and underdeveloped secondary sexual characteristics.Laboratory tests showed decreased levels of cortisol,testosterone,and estradiol,along with elevated levels of adrenocorticotrop-ic hormone(ACTH)and follicle-stimulating hormone(FSH).Bone mineral density tests indicated osteoporosis in the hip and lumbar spine.X-ray of the left wrist suggested delayed bone age.Ultrasound revealed hypoechoic nodules near the iliac vessels at the inguinal ring bilaterally,with no uterine or ovarian structures detected in the pelvic region.CT imaging of the adrenal glands showed localized thickening of the left adrenal gland.Abdominopelvic enhanced CT demonstrated low-density nodules anterior to the external iliac arteries bilaterally,with mild delayed enhancement,suggesting cryptorchidism.No uterine or ovarian structures were observed.Chromosomal analysis revealed a 46,XY karyotype,and genetic testing confirmed a homozygous mutation in the CYP17A1 gene.The patient received gluco-corticoid and estrogen replacement therapy,along with treatment to control blood pressure and maintain potassium levels.Laparoscopic exploration and bilateral orchiectomy were performed,with histopathological examination reveal-ing underdeveloped testes.Conclusion:In patients with underdeveloped secondary sexual characteristics,low sex hormone levels,and hypertension with hypokalemia,17OHD should be considered.Chromosomal and genetic test-ing is crucial for confirming the diagnosis.In male patients with cryptorchidism,early orchiectomy is recommended to prevent malignancy.

关 键 词：17Α-羟化酶/17 20碳链裂解酶缺陷症 CYP17A1基因 基因检测 假两性畸形 治疗 

分 类 号：R596.1[医药卫生—内科学]