“社会性别男性”先天性肾上腺皮质增生症合并肾上腺巨大占位一例并文献复习  

Phenotypically Male Congenital Adrenal Hyperplasia Patient with Huge Space-occupying Adrenal Masses:a Case Report and Literature Review

作　　者：饶玉凤 蒙丽恒[1] 周嘉[1] 梁杏欢[1] 黄振兴[1] 秦映芬[1] RAO Yufeng;MENG Liheng;ZHOU Jia;LIANG Xinghuan;HUANG Zhenxing;QIN Yingfen(Department of Endocrinology,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China)

机构地区：[1]广西医科大学第一附属医院内分泌科,广西壮族自治区南宁市530021

出　　处：《中国全科医学》2023年第21期2690-2694,共5页Chinese General Practice

基　　金：广西自然科学基金资助项目(2017GXNSFAA198097);广西医疗卫生适宜技术开发与推广应用项目(S2017026)。

摘　　要：先天性肾上腺皮质增生症(CAH)是由于类固醇激素合成过程中某种酶先天性缺乏,导致肾上腺皮质功能减退的常染色体隐性遗传疾病。促肾上腺皮质激素过度分泌和皮质醇分泌不足常导致肾上腺增大。现有研究报道CAH合并肾上腺占位绝大部分是良性病变,极少数为恶性病变,但临床医师难以区别占位的性质,且目前国内外医师对于此类患者的治疗缺少经验。本文报道了1例“社会性别男性”CAH合并肾上腺巨大占位的患者,并进行了相关文献复习,提供更多对于CAH合并肾上腺占位的诊治经验,为临床医生提供参考。在未经诊治或激素有效替代治疗的CAH合并肾上腺占位患者中,肾上腺常呈“瘤样”增生,大部分患者经糖皮质激素替代治疗后肾上腺占位可明显缩小或消失。经过多年随访,本研究发现CAH合并肾上腺占位即使没有进行有效的药物干预,占位亦无较大变化,对患者身体也无明显影响。Congenital adrenal hyperplasia(CAH)is an autosomal recessive genetic disease encompassing enzyme deficiencies in the process of adrenal steroidogenesis,which leads to adrenal cortex dysfunction.Hypersecretion of corticotrophinreleasing hormone and insufficient cortisol production often lead to enlarged adrenal glands.Existing studies have reported that most of space-occupying adrenal masses in CAH are benign,only very few are malignant.It is difficult for clinicians to distinguish the nature of space-occupying adrenal masses,and physicians have insufficient experiences in treating the disease.We reported a phenotypically male case of CAH with huge space-occupying adrenal masses and reviewed relevant literature,aiming to provide evidence on the diagnosis and treatment of this disease for clinicians.The space-occupying adrenal masses in CAH often show tumor-like hyperplasia before diagnosis and treatment or effective hormone replacement therapy,but most of them will be significantly reduced or disappear after glucocorticoid replacement therapy.But a follow-up of several years showed that spaceoccupying adrenal masses in the CAH patient encountered by us had no significant changes and no significant impact on the patient's body,even without effective drug intervention.

关 键 词：肾上腺皮质腺瘤 类固醇21-羟化酶 糖皮质激素类 性别特性 病例报告 

分 类 号：R736.6[医药卫生—肿瘤]