Unexpected diagnosis of stage IIA dysgerminoma in streak gonad in a patient with Swyer syndrome: a case report

Abstract

Patients with Swyer syndrome, which is also known as 46,XY pure gonadal dysgenesis, are at an increased risk of gonadoblastoma and germ cell tumor. Prophylactic gonadectomy is recommended for these patients. We report a case of stage IIA dysgerminoma arising in a streak gonad in a patient with Swyer syndrome, which was not diagnosable preoperatively and intraoperatively. The patient was primarily amenorrheic and identified as female phenotypically. She underwent gonadectomy at 27 years of age. Preoperative image analysis showed a relatively small uterus without adnexal masses. Laparoscopic findings showed bilateral streak gonads. Postoperatively, histopathological examination revealed that the patient had dysgerminoma in her left streak gonad. Preoperative and intraoperative diagnosis of dysgerminoma in normal size ovaries is thought to be difficult. Although it is rare, considering the occurrence of dysgerminoma in streak gonad with extension to the mesosalpinx, prompt prophylactic gonadectomy is strongly recommended for these patients regardless of the size of the ovaries.

Chinese abstract

Swyer综合征患者即染色体核型为46, XY的单纯性性腺发育不全者, 多为性腺母细胞瘤和生殖细胞肿瘤的高危人群。该病的常规治疗方案为预防性性腺切除术。本文报道了一例关于一名Swyer综合征患者确诊为IIA期条纹性腺无性细胞瘤且在术前及术中诊断失败的病案。该患者最初症状为具有女性表型但出现原发性闭经。在其27岁时行性腺切除术。术前影像学检查发现该患者子宫极小且不伴有附件肿物。腹腔镜检查显示具有双侧条纹性腺。术后病理学结果为左侧条纹性腺无性细胞瘤, 与术前及术中诊断的卵巢无性细胞瘤有很大出入。尽管条纹性腺无性细胞瘤伴有输卵管系膜浸润的情况十分罕见, 但仍建议对该类患者行预防性性腺切除术且不考虑患者卵巢大小。

Keywords:

• Swyer syndrome
• dysgerminoma
• gonadal dysgenesis
• streak gonad
• gonadetomy

Disclosure statement

The authors have no conflicts of interest to declare.