Çakir Esra Deniz Papatya, Mutlu Fatma Sentürk, Eren Erdal, Paşa Aliye Ozlem, Sağlam Halil, Tarim Omer
Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey.
J Clin Res Pediatr Endocrinol. 2012 Jun;4(2):94-100. doi: 10.4274/jcrpe.563.
Early diagnosis and treatment of testicular adrenal rest tumors (TART) is important for gonadal functions and fertility protection in boys with congenital adrenal hyperplasia (CAH). In this descriptive study, we investigated the prevalence of TART in boys with 21-hydroxylase deficient (21OHD) CAH followed in our pediatric endocrine clinic.
The study group consisted of 14 male patients with a mean age of 9.6 ± 5.1 (range: 0.8-18.3) years. Six (42.9%) of the 14 patients were diagnosed as having salt-wasting type (SW) and eight (57.1%) patients - as having the simple virilizing (SV) form of 21OHD. Mean age at diagnosis was 2.9 ± 2.7 (range: 0.03-6.3) years. Two different radiologists performed scrotal ultrasonography. Chronological age, bone age, and anthropometric measurements were evaluated. Serum adrenocorticotropic hormone (ACTH), 17-alpha-hydroxyprogesterone (17OHP) and androstenedione levels were also evaluated in all patients during the follow-up period.
Scrotal ultrasonography revealed bilateral TART in two patients (14.3%) and testicular microlithiasis (TM) in four patients (28.6%). One patient had both TART and TM bilaterally. During the follow-up period, the mean serum adrenocorticotropic hormone, 17OHP and androstenedione levels in the total group of patients were 130.0 ± 179.1 pg/mL (21.7-726.5), 5.8 ± 3.3 ng/mL (0.8-11.4) and 4.3 ± 4.1 (0.2-11.0) ng/mL, respectively.
Microlithiasis or TART may be frequently encountered during the follow-up of patients with CAH. In order to prevent late complications including infertility, we suggest that ultrasonographic evaluations be performed yearly in all male CAH patients.
对于先天性肾上腺皮质增生症（CAH）男孩，睾丸肾上腺残余肿瘤（TART）的早期诊断和治疗对于性腺功能及生育能力的保护至关重要。在这项描述性研究中，我们调查了在我们儿科内分泌门诊随访的21-羟化酶缺乏（21OHD）型CAH男孩中TART的患病率。
研究组由14例男性患者组成，平均年龄为9.6±5.1（范围：0.8 - 18.3）岁。14例患者中有6例（42.9%）被诊断为失盐型（SW），8例（57.1%）患者被诊断为单纯男性化（SV）型21OHD。诊断时的平均年龄为2.9±2.7（范围：0.03 - 6.3）岁。两名不同的放射科医生进行阴囊超声检查。评估了实际年龄、骨龄和人体测量数据。在随访期间还对所有患者的血清促肾上腺皮质激素（ACTH）、17-α-羟孕酮（17OHP）和雄烯二酮水平进行了评估。
阴囊超声检查发现2例患者（14.3%）有双侧TART，4例患者（28.6%）有睾丸微石症（TM）。1例患者双侧同时存在TART和TM。在随访期间，患者总数的血清促肾上腺皮质激素、17OHP和雄烯二酮的平均水平分别为130.0±179.1 pg/mL（21.7 - 726.5）, 5.8±3.3 ng/mL（0.8 - 11.4）和4.3±4.1（0.2 - 11.0）ng/mL。
在CAH患者的随访过程中可能经常遇到微石症或TART。为了预防包括不育症在内的晚期并发症，我们建议对所有男性CAH患者每年进行超声检查评估。
