早期正确诊断睾丸残基瘤的意义及方法

The significance of early-correct diagnosis for testicular adrenal rest tumors

目的 为防止睾丸残基瘤误诊或延迟诊断,探讨早期正确诊断睾丸残基瘤的方法.方法 对6例激素治疗无效的先天性肾上腺皮质增生症患儿,根据其临床症状和体格检查的情况,结合内分泌学方面如血睾酮、雄烯二酮的测定,影像学超声及磁共振检查,从而确定患儿睾丸内是否存在病灶,并行结节剔除病理检查明确是否为睾丸残基瘤.结果 6例患儿术前均有不同程度的内分泌指标紊乱,临床表现上4例患儿出现全身乏力、痤疮增多或局部酸痛不适,体格检查均可触及睾丸内结节形成,1例患儿曾行睾丸CT检查,当时未能认出已存在的睾丸内病灶;1例患儿曾行一侧肾上腺次全切除术,术后半年症状复发;6例患儿超声及磁共振均提示睾丸内病灶;全部患儿均Ⅰ期行双侧睾丸残基瘤剔除术,切除标本病理学检查均可见异位的肾上腺组织.结论 先天性肾上腺皮质增生症患儿常合并睾丸残基瘤,在激素治疗效果不佳的患儿中其发病率更高;由于对其认识不够,容易误诊或延诊,影响患儿的激素治疗效果;先天性肾上腺皮质增生症患儿随诊期间,应常规行睾丸触诊及超声检查;出现激素疗效不佳,应高度怀疑睾丸残基瘤形成,磁共振检查可明确有无睾丸内病变;按照一定的随诊诊断流程可最大程度上避免误诊或延迟诊断.

Objective The purpose of this study is to improve the misdiagnosis of testicular adrenal rest tumors （TART） in children. Methods Six children, who were diagnosed congenital adrenal hyperplasia （CAH） in our hospital, had a poor response to hormonal therapy. We took history, carried out testicular examination, endocrine index （testosterone, androstenedione）, ultrasound, magnetic resonance and pathology examinations to assess the possibility of TART.Results All 6 patients had a varying degrees endocrine index disorder; Of the 6 cases, 4 patients suffered from fatigue, acne or pain. Testicu lar nodules were palpable in all 6 patients; One child had CT scan previously without detecting the testicular nodule Another child underwent subtotal adrenalectomy due to failure of medical control of the testosterone level With the ultrasound and magnetic resonance, TART were detected in all 6 cases; All patients underwent the testis sparing enucleation; Ectopic adrenal tissue can be found in all surgical specimen. Conclusions Patients with CAH can develop TART, especially in those with poor hormonal control. The authors suggest a flow chart to diagnose TART.