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 corticotrophin-releasing 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 space-occupying 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.

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。