Department of Medical and Molecular Medicine, Unit of Andrology, Sant’Andrea Hospital, University of Rome Sapienza, Rome, Italy.
J Ultrasound Med. 2012 Mar;31(3):383-8. doi: 10.7863/jum.2012.31.3.383.
Testicular adrenal rest tumors have been described in patients with congenital adrenal hyperplasia (CAH). The aim of this work was to (1) evaluate the prevalence of testicular adrenal rest tumors in patients with CAH; (2) study the hormonal profile; (3) define the sonographic features; (4) assess the seminal profile; and (5) initiate a longitudinal study on the possible role of corticotropin (ACTH) plasma levels in the induction and persistence of testicular adrenal rest tumors.
Eighteen patients affected by CAH, aged 21 to 41 years, were studied. These were all patients referred to our endocrinology unit for the first time to undergo a clinical evaluation. All of the patients were taking long-term cortisone acetate and fludrocortisone replacement therapy. The study included (1) a physical examination, (2) testis sonography, (3) a hormonal profile, (4) semen analysis.
Sonography showed testicular adrenal rest tumors in 11 patients (61.1%); of these, 9 cases (50.0%) were bilateral, and 2 (11.1%) were unilateral. The diameter ranged from 4 to 38 mm. In 9 patients, the lesions were hypoechoic, whereas in 2, they were hyperechoic. High plasma ACTH levels were detected in all of the patients with tumors despite long-term therapy. Semen analysis found 2 cases of azoospermia and 6 cases of oligoasthenoteratozoospermia; the 3 remaining patients were normospermic. The preliminary longitudinal study has shown 3 patients with a disappearance or reduction of the tumors after 6 months of modified treatment.
This study confirms the high prevalence of testicular adrenal rest tumors in patients with CAH and the major role played in its pathogenesis by high plasma ACTH levels.
先天性肾上腺皮质增生症（CAH）患者中已描述了睾丸肾上腺残瘤。本研究的目的是：（1）评估 CAH 患者中睾丸肾上腺残瘤的发生率；（2）研究激素谱；（3）确定声像图特征；（4）评估精液特征；（5）初步研究促肾上腺皮质激素（ACTH）血浆水平在诱导和维持睾丸肾上腺残瘤中的可能作用。
研究了 18 例年龄为 21 至 41 岁的 CAH 患者。这些患者均因首次就诊而被转至我们的内分泌科进行临床评估。所有患者均接受长期醋酸考的松和氟氢可的松替代治疗。研究包括：（1）体格检查；（2）睾丸超声检查；（3）激素谱分析；（4）精液分析。
超声显示 11 例（61.1%）患者存在睾丸肾上腺残瘤，其中 9 例（50.0%）为双侧，2 例（11.1%）为单侧。病变直径范围为 4 至 38mm。9 例病变呈低回声，2 例呈高回声。尽管接受了长期治疗，但所有肿瘤患者的血浆 ACTH 水平均升高。精液分析发现 2 例无精子症和 6 例少弱畸形精子症；其余 3 例患者的精子正常。初步的纵向研究显示，3 例患者在经过 6 个月的改良治疗后肿瘤消失或缩小。
本研究证实 CAH 患者中睾丸肾上腺残瘤的发生率较高，且高血浆 ACTH 水平在其发病机制中起重要作用。
