Battaglia Michele, Ditonno Pasquale, Palazzo Silvano, Bettocchi Carlo, Selvaggio Oscar, Garofalo Lucio, Selvaggi Francesco Paolo
Department of Emergency and Organ Transplantation, Section of Surgical Nephrology and Transplantation, University of Bari, Bari, Italy.
Urol Oncol. 2005 May-Jun;23(3):178-80. doi: 10.1016/j.urolonc.2004.12.011.
Congenital 21-alpha hydroxylase deficiency is a syndrome characterized by a cortisol synthesis deficiency and, rarely, by testicular masses. We present a case of bilateral nodular hyperplasia of the testis without adrenal hyperplasia in a patient affected by 21-alpha hydroxylase deficiency. This mass mimicked a testicular tumor and made differential diagnosis with a Leydig cell tumor extremely difficult. Multiple hard nodules (1 cm in diameter) could be palpated in both testes but were more prominent on the right. After an unsuccessful 30-day trial of an adrenocorticotropic hormone suppression regimen with dexamethasone (0.5 mg/qid), a right total orchifunicolectomy was performed. The final histological diagnosis was that of multiple, well-circumscribed nodules consisting of cord-like and microalveolar-like gonadal stroma, typical of an adrenogenital syndrome, and fibrosis. Differential diagnosis between testicular nodules in patients with congenital adrenal hyperplasia and Leydig cell tumors is a major clinical challenge. In cases of cortisol suppression resistant testicular masses, a serum adrenal hormone profile obtained from the gonadal vein and histology of the testicular nodule (with parenchyma sparing surgery) are recommended to obtain a correct diagnosis.
先天性21-α羟化酶缺乏症是一种以皮质醇合成缺乏为特征的综合征，少数情况下伴有睾丸肿块。我们报告一例21-α羟化酶缺乏症患者，其双侧睾丸结节性增生但无肾上腺增生。该肿块类似睾丸肿瘤，与Leydig细胞瘤进行鉴别诊断极为困难。双侧睾丸均可触及多个硬结节（直径1cm），右侧更为明显。在使用地塞米松（0.5mg/每日4次）进行促肾上腺皮质激素抑制方案的30天试验失败后，进行了右侧睾丸精索切除术。最终组织学诊断为多个边界清晰的结节，由条索状和微腺泡状性腺间质组成，这是肾上腺生殖器综合征的典型表现，还伴有纤维化。先天性肾上腺增生患者睾丸结节与Leydig细胞瘤的鉴别诊断是一项重大临床挑战。对于皮质醇抑制抵抗性睾丸肿块，建议从性腺静脉获取血清肾上腺激素谱，并对睾丸结节进行组织学检查（采用保留实质的手术方式）以获得正确诊断。
