Yu Min Kyung, Jung Mo Kyung, Kim Ki Eun, Kwon Ah Reum, Chae Hyun Wook, Kim Duk Hee, Kim Ho-Seong
Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea.
Department of Pediatrics, Sohwa Children's Hospital, Seoul, Korea.
Ann Pediatr Endocrinol Metab. 2015 Sep;20(3):155-61. doi: 10.6065/apem.2015.20.3.155. Epub 2015 Sep 30.
In male patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumors (TARTs) have been reported, however their prevalence and clinical manifestations are not well known. Untreated TARTs may lead to testicular structural damage and infertility. This study was conducted to investigate the prevalence of TARTs in male patients with CAH, and characterize the manifestations to identify contributing factors to TART.
Among 102 CAH patients aged 0-30 years, 24 male patients have been regularly followed up in our outpatient clinic at Severance Children's Hospital from January 2000 to December 2014. In order to reveiw the characteristics of TART patients, we calculated the mean levels of hormones during the 5 years before the time of investigation. Five patients underwent follow-up scrotal ultrasonography (US) after adjusting the dosage of glucocorticoids.
TARTs were detected in 8 of the 13 patients (61.5%). The median age of TARTs diagnosis was 20.2 years with the youngest case being 15.5 years old. The mean serum level of adrenocorticotropic hormone (ACTH) was higher in the TARTs patient group compared to the non-TARTs group (P<0.05). The tumor size decreased in 3 cases, slightly increased in 1 case, and had no change in another case.
The serum ACTH level might be associated with the growth promoting factor for TARTs, but the exact mechanism has not been clearly identified. Screening for TARTs using US is important in male patients with CAH for early-detection and prevention of ongoing complications, such as infertility.
在先天性肾上腺皮质增生症（CAH）男性患者中，已有睾丸肾上腺残余瘤（TARTs）存在的报道，但其患病率及临床表现尚不明确。未经治疗的TARTs可能导致睾丸结构损伤及不育。本研究旨在调查CAH男性患者中TARTs的患病率，并描述其表现以确定TARTs的相关影响因素。
在102例0至30岁的CAH患者中，24例男性患者于2000年1月至2014年12月在Severance儿童医院门诊接受定期随访。为了回顾TARTs患者的特征，我们计算了调查前5年期间的激素平均水平。5例患者在调整糖皮质激素剂量后接受了阴囊超声（US）随访。
13例患者中有8例（61.5%）检测到TARTs。TARTs诊断的中位年龄为20.2岁，最小病例为15.5岁。与非TARTs组相比，TARTs患者组促肾上腺皮质激素（ACTH）的平均血清水平更高（P<0.05）。3例患者肿瘤大小减小，1例略有增加，另1例无变化。
血清ACTH水平可能与TARTs的生长促进因子有关，但确切机制尚未明确。对于CAH男性患者，采用US筛查TARTs对于早期发现和预防诸如不育等持续并发症很重要。
