Sha Yan-Kun, Sha Yan-Wei, Ding Lu, Liu Wei-Wu, Song Yue-Qiang, Lin Jin, He Xue-Mei, Qiu Ping-Ping, Zhang Ling, Li Ping
Department of Nephrology, First Affiliated Hospital of Liaoning Medical University, Jinzhou City 121000, Liaoning Province, China.
Reproductive Medicine Center, Maternal and Child Health Hospital of Xiamen City 361005, Xiamen City, Fujian Province, China.
Int J Fertil Steril. 2016 Jan-Mar;9(4):574-80. doi: 10.22074/ijfs.2015.4618. Epub 2015 Dec 23.
21-hydroxylase deficiency (21-OHD) caused congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (CO) synthesis in the adrenal glands. Testicular adrenal rest tumors (TARTs) are rarely the presenting symptoms of CAH. Here, we describe a case of simple virilizing CAH with TARTs, in a 15-year-old boy. The patient showed physical signs of precocious puberty. The levels of blood adrenocorticotropic hormone (ACTH), urinary 17-ketone steroids (17-KS), dehydroepiandrosterone sulfate (DHEA-S), and serum progesterone (PRGE) were elevated, whereas those of follicle-stimulating hormone (FSH), luteinizing hormone (LH), and CO were reduced. Computed tomography (CT) of the adrenal glands and magnetic resonance imaging (MRI) of the testes showed a soft tissue density (more pronounced on the right side) and an irregularly swollen mass (more pronounced on the left side), respectively. Pathological examination of a specimen of the mass indicated polygonal/circular eosinophilic cytoplasm, cord-like arrangement of interstitial cells, and lipid pigment in the cytoplasm. Immunohistochemistry results precluded a diagnosis of Leydig cell tumors. DNA sequencing revealed a hackneyed homozygous mutation, I2g, on intron 2 of the CYP21A2 gene. The patient's symptoms improved after a three-month of dexamethasone therapy. Recent radiographic data showed reduced hyperplastic adrenal nodules and testicular tumors. A diagnosis of TART should be considered and prioritized in CAH patients with testicular tumors. Replacement therapy using a sufficient amount of dexamethasone in this case helps combat TART.
21-羟化酶缺乏症（21-OHD）所致先天性肾上腺皮质增生症（CAH）是一组常染色体隐性遗传疾病，由肾上腺皮质中参与皮质醇（CO）合成的基因突变引起。睾丸肾上腺残余瘤（TARTs）很少是CAH的首发症状。在此，我们描述一例15岁男性单纯男性化型CAH合并TARTs的病例。该患者表现出性早熟的体征。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）及血清孕酮（PRGE）水平升高，而促卵泡生成素（FSH）、黄体生成素（LH）及CO水平降低。肾上腺计算机断层扫描（CT）及睾丸磁共振成像（MRI）分别显示肾上腺软组织密度（右侧更明显）及睾丸不规则肿大肿块（左侧更明显）。肿块标本的病理检查显示多边形/圆形嗜酸性细胞质、间质细胞条索状排列及细胞质内脂色素。免疫组化结果排除了Leydig细胞瘤的诊断。DNA测序显示CYP21A2基因第2内含子存在常见的纯合突变I2g。患者接受三个月地塞米松治疗后症状改善。近期影像学数据显示增生的肾上腺结节及睾丸肿瘤缩小。对于患有睾丸肿瘤的CAH患者，应考虑并优先诊断TART。本例中使用足量地塞米松进行替代治疗有助于对抗TART。
