国际妇产科学杂志

国际妇产科学杂志 ›› 2026, Vol. 53 ›› Issue (3): 306-310.doi: 10.12280/gjfckx.20251190

• 妇科肿瘤研究:病例报告 • 上一篇    下一篇

46,XY单纯性腺发育不全合并性腺生殖细胞肿瘤的临床和影像特征分析

周盼盼, 黄宏亮, 徐世祯, 郭桃英, 汪泉, 宛四海()   

  1. 332000 江西省九江市妇幼保健院放射科（周盼盼， 黄宏亮， 徐世祯，宛四海），妇科（郭桃英），病理科（汪泉）
  • 收稿日期:2025-10-23 出版日期:2026-06-15 发布日期:2026-07-06
  • 通讯作者: 宛四海 E-mail:35961050@qq.com
  • 基金资助:
    江西省卫生健康妇幼遗传病筛查与诊断重点实验室开放课题基金(JJBJYKFSYS-FY2024-005)

Clinical and Imaging Features Analysis of 46, XY Pure Gonadal Dysgenesis Complicated with Gonadal Germ Cell Tumors

ZHOU Pan-pan, HUANG Hong-liang, XU Shi-zhen, GUO Tao-ying, WANG Quan, WAN Si-hai()   

  1. Department of Radiology (ZHOU Pan-pan, HUANG Hong-liang, XU Shi-zhen, WAN Si-hai), Department of Gynecology (GUO Tao-ying), Department of Pathology (WANG Quan), Maternal and Child Health Hospital of Jiujiang City, Jiujiang 332000, Jiangxi Province, China
  • Received:2025-10-23 Published:2026-06-15 Online:2026-07-06
  • Contact: WAN Si-hai E-mail:35961050@qq.com

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摘要：

46,XY单纯性腺发育不全（pure gonadal dysgenesis，PGD）是一种少见的性发育异常，患者社会性别为女性，染色体核型为46,XY，原始条索状性腺易发生恶性生殖细胞肿瘤。报告1例16岁社会性别女性的46,XY PGD患者，因下腹部疼痛就诊，影像学发现盆腔实性包块，手术后病理诊断为左侧卵巢无性细胞瘤ⅠC2期、双侧卵巢性腺母细胞瘤。该病临床表现为原发性闭经和青春期第二性征延迟，促性腺激素（卵泡刺激素、黄体生成素）水平升高，性激素（雌激素、睾酮、抗米勒管激素）水平降低。性腺母细胞瘤影像学特征为体积大小不一，包块内可见多发结节状钙化；无性细胞瘤影像学特征为体积巨大，包块内可见多发纤维血管分隔、明显不均匀强化。一经明确诊断为46,XY PGD，应尽早预防性切除双侧性腺，至少在青春期启动前完成性腺切除，以预防发生性腺恶性生殖细胞肿瘤。

关键词: 性腺发育不全，46,XY, 性腺母细胞瘤, 无性细胞瘤, 磁共振成像, 体层摄影术，X线计算机

Abstract:

46, XY pure gonadal dysgenesis (PGD) is a rare disorder of sex development. Patients have a female social gender and a 46,XY karyotype. The primitive streak gonads are prone to malignant germ cell tumors. This report describes a 16-year-old phenotypic female with 46, XY PGD who presented with lower abdominal pain. Imaging revealed a solid pelvic mass. Postoperative pathology confirmed stage ⅠC2 left ovarian dysgerminoma and bilateral ovarian gonadoblastomas. The clinical manifestations of this condition include primary amenorrhea and delayed puberty with poor development of secondary sexual characteristics, elevated gonadotropin (follicle-stimulating hormone, luteinizing hormone) levels, and decreased sex hormone (estradiol, testosterone, anti-Müllerian hormone) levels. The imaging features of gonadoblastoma are variable-sized masses containing multiple nodular calcifications. The imaging features of dysgerminoma are large masses exhibiting multiple fibrovascular septa and marked heterogeneous enhancement. Once a diagnosis of 46, XY PGD is established, prophylactic bilateral gonadectomy should be performed as early as possible, at least before the onset of puberty, to prevent the development of malignant gonadal germ cell tumors.

Key words: Gonadal dysgenesis, 46, XY, Gonadoblastoma, Dysgerminoma, Magnetic resonance imaging, Tomography, X-ray computed