迟发型先天性肾上腺皮质增生伴睾丸肾上腺残余肿瘤临床分析(附1例报告)

目的:分析迟发型先天性肾上腺皮质增生(congenital adrenal hyperplasia,CAH)伴睾丸肾上腺残余肿瘤(testicular adrenal rest tumors,TART)的临床诊疗方法。方法:对2009年本院男科门诊收治的1例迟发型CAH伴TART的患者临床资料进行回顾性分析。结果:患者年龄15岁,身材矮小,皮肤黝黑,牙龈及外生殖器等皮肤色素沉着,第二性征呈成人型,双侧睾丸触及不规则肿大质硬结节。血促肾上腺皮质激素(ACTH)、尿17-酮类固醇(17-KS)、硫酸脱氢表雄酮(DHEA-S)、血孕酮(PRGE)明显升高。卵泡刺激素(FSH)、黄体生成素(LH)、皮质醇(CO)明显降低。小剂量地塞米松抑制试验ACTH、DHEA-S降至正常水平。影像学检查双侧肾上腺软组织密度影,右侧较为明显。双侧睾丸见不规则增大,左侧较为明显,信号不均,内见分隔,周围见液性信号环绕。病理学示嗜酸性胞质呈多角形或圆形,间质样细胞条索状排列,胞质内含有脂色素,免疫组化示排除睾丸间质细胞瘤。地塞米松替代治疗3个月后临床症状逐渐改善,睾丸结节左侧明显缩小,右侧消失,肾上腺增生结节9个月时消失。结论:根据以上临床表现和辅助检查,诊断为迟发型CAH伴TART,因肾上腺皮质功能不足致ACTH的持续大量分泌,最终导致肾上腺皮质增生和TART发生,通过足量的地塞米松替代治疗后TART缩小或消失,肾上腺增生结节消失,临床症状改善,各项实验室指标恢复正常。

Congenital adrenal hyperplasia complicated by testicular adrenal rest tumors:One-case clinical analysis

Objective:To investigate the early diagnosis and treatment of congenital adrenal hyperplasia(CAH) complicated by testicular adrenal rest tumors(TART).Methods:We retrospectively analyzed the clinical data of 1 case of late-onset CAH complicated by TART diagnosed and treated in Xiamen Women and Children Health Care Hospital.Results:The patient was a 15 years old boy,short statured and dark skinned,with skin pigmentation in the gum and external genital,secondary sex characteristics of the adult and irregular tubercles palpable in the bilateral testes.Laboratory examinations showed obviously increased levels of ACTH,17-KS,DHEA-S and progesterone and evidently decreased levels of FSH,LH and CO.The low-dose dexamethasone suppression test reduced ACTH and DHEA-S to normal.Imaging examinations revealed soft tissue density in the bilateral adrenal glands,especially on the right,and irregularly increased volume of the bilateral testes,particularly on the left,with heterogeneous signals and septas and surrounded by the fluid signals.Histopathological examinations showed the eosinophilic cytoplasm to be polygon-or round-shaped,interstitium-like cells arranged in line,and lipopigment in the endochylema.Immunohistochemical results were negative for testicular interstitial cell tumor.The clinical signs of the patient were improved after 3 months of dexamethasone treatment,the hyperplastic nodules in the left testis decreased obviously and those in the right testis disappeared after 6 months,and the hyperplastic nodules in the adrenal glands vanished after 9 months.Conclusion:Based on the clinical manifestations and the results of auxiliary examinations,this case was diagnosed as late-onset CAH complicated by TART,which was attributed to the continued surge of ACTH induced by corticoadrenal insufficiency.Sufficient dexamethasone treatment could make the TART decrease or disappear and the CAH vanish;it could also improve the clinical symptoms and bring the laboratory results to normal. Natl J Androl,2010,16(9):816-821