青春期前女孩伴混合性性腺发育不全（45,X/46,XY）和特纳表型发生卵巢交界性黏液性肿瘤导致附件扭转。
Adnexal Torsion Due to Borderline Mucinous Tumor of the Gonad in a Prepubertal Girl with Mixed Gonadal Dysgenesis (45,X/46,XY) and a Turner Phenotype.
机构信息
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas.
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas; Division of Pediatric and Adolescent Gynecology, Texas Children's Hospital, Houston, Texas.
出版信息
J Pediatr Adolesc Gynecol. 2022 Aug;35(4):492-495. doi: 10.1016/j.jpag.2022.01.002. Epub 2022 Jan 16.
BACKGROUND
Turner syndrome (TS) is a sex chromosome condition characterized by complete or partial loss of the X chromosome. Patients with mixed gonadal dysgenesis (45,X/46,XY) and a Turner phenotype are predisposed to gonadoblastoma with malignant transformation.
CASE
We present the case of a TS patient with 45,X/46,XY with 2 episodes of left adnexal torsion (AT). Biopsies during detorsion showed benign mucinous cystadenoma. Pathology following bilateral gonadectomy revealed a left gonad with mucinous borderline tumor and right gonad with gonadoblastoma, both of which have malignant potential.
SUMMARY AND CONCLUSION
Gonadectomy is recommended in XY gonadal dysgenesis to decrease risk of malignant transformation from gonadoblastoma. Although rare in pediatric patients, ovarian malignancies have been identified among AT cases. To our knowledge, we present the first case of AT due to borderline ovarian mucinous tumor of the ovary and contralateral gonadoblastoma in a patient with mixed gonadal dysgenesis (45,X/46,XY) and a Turner phenotype.
背景
特纳综合征（TS）是一种性染色体疾病，其特征是 X 染色体完全或部分缺失。具有混合性腺发育不全（45,X/46,XY）和特纳表型的患者易发生伴有恶性转化的性腺母细胞瘤。
病例
我们报告了一例 TS 患者，其核型为 45,X/46,XY，有 2 次左侧附件扭转（AT）发作。扭转复位时的活检显示良性黏液性囊腺瘤。双侧性腺切除术后的病理显示左侧性腺为交界性黏液性肿瘤，右侧性腺为性腺母细胞瘤，均具有恶性潜能。
总结和结论
建议对 XY 性腺发育不全行性腺切除术，以降低性腺母细胞瘤恶变的风险。尽管在儿科患者中罕见，但在 AT 病例中已发现卵巢恶性肿瘤。据我们所知，我们报告了首例由于交界性卵巢黏液性肿瘤和对侧性腺母细胞瘤导致的混合性腺发育不全（45,X/46,XY）和特纳表型患者的 AT。
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