Lin Maria H, Shamszadeh Masoud, Pitukcheewanont Pisit
Children's Hospital Los Angeles, The Keck School of Medicine of University of Southern California, Los Angeles, 90027, USA.
J Pediatr Endocrinol Metab. 2012;25(5-6):547-51. doi: 10.1515/jpem-2012-0026.
Complete androgen insensitivity syndrome (AIS) is an X-linked disorder of sex development. Surgical management entails timely gonadectomy given the risk of malignant transformation. Our patient presented at age 15 years with primary amenorrhea. Initial laboratory testing showed elevated testosterone, luteinizing hormone, anti-Müllerian hormone levels, and 46,XY karyotype. Imaging studies showed no uterus, ovaries, and identified two candidate gonads. She underwent bilateral gonadectomy. Pathology reports revealed Sertoli cell and intratubular germ cell tumors located in separate gonads. Our case is the first report of the youngest patient with AIS with bilateral gonadal tumors derived from different histological origins. We also review literature for reports of AIS patients with gonadal tumors. Currently, there is no consensus for the timing of gonadectomy in AIS patients. However, given the varying potential for malignant transformation of gonads in AIS patients with different phenotypes, development of a standardized treatment guideline is indicated.
完全性雄激素不敏感综合征（AIS）是一种X连锁性性发育障碍。鉴于存在恶性转化风险，手术治疗需要及时进行性腺切除术。我们的患者15岁时因原发性闭经就诊。初始实验室检查显示睾酮、黄体生成素、抗苗勒管激素水平升高，核型为46,XY。影像学检查未发现子宫、卵巢，并确定了两个可疑性腺。她接受了双侧性腺切除术。病理报告显示，位于不同性腺中的支持细胞瘤和管内生殖细胞瘤。我们的病例是首例关于最年轻的AIS患者出现源自不同组织学起源的双侧性腺肿瘤的报告。我们还回顾了有关AIS患者性腺肿瘤报告的文献。目前，对于AIS患者性腺切除术的时机尚无共识。然而，鉴于不同表型的AIS患者性腺发生恶性转化的可能性各异，制定标准化治疗指南很有必要。
