一名患有混合性性腺发育不全（核型45,X/46,XY）患者的早期双侧性腺母细胞瘤：病例报告及文献复习
Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature.
作者信息
Trainavičius Ignas, Dasevičius Darius, Burnytė Birutė, Kemežys Robertas, Verkauskas Gilvydas
机构信息
Vilnius University, Faculty of Medicine, Vilnius, Lithuania.
National Center of Pathology, Affiliate of Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
出版信息
Acta Med Litu. 2022;29(2):194-200. doi: 10.15388/Amed.2022.29.2.5. Epub 2022 Jun 29.
BACKGROUND
Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder of genital development and a higher risk of germ cell neoplasia, management of these patients is complex and requires multidisciplinary approach.
CASE
We present a 45,X/46,XY mixed gonadal dysgenesis patient diagnosed with gonadoblastoma in both gonads after bilateral gonadectomy at 1 year of age.
CONCLUSIONS
Because of high risk for malignant transformation, gonadectomy of a streak-like gonad and biopsy with orchidopexy or gonadectomy of a dysgenetic testicle is recommended at an early age.
背景
混合性性腺发育不全是一种罕见的先天性疾病，具有挑战性，主要特征为45,X/46,XY核型嵌合体、性腺发育不对称以及各种内外生殖器解剖结构异常。由于生殖器官发育频繁紊乱且生殖细胞肿瘤形成风险较高，这些患者的管理较为复杂，需要多学科方法。
病例
我们报告一名45,X/46,XY混合性性腺发育不全患者，在1岁时接受双侧性腺切除术后，双侧性腺均被诊断为性腺母细胞瘤。
结论
由于恶性转化风险高，建议早期对条索状性腺进行性腺切除，并对发育异常的睾丸进行活检及睾丸固定术或性腺切除术。
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