混合性腺发育不良患者的早期双侧性腺母细胞瘤（核型45，X/46，XY）：病例报告和文献复习。

Q3 Medicine Acta Medica Lituanica Pub Date : 2022-01-01 Epub Date: 2022-06-29 DOI:10.15388/Amed.2022.29.2.5

Ignas Trainavičius, Darius Dasevičius, Birutė Burnytė, Robertas Kemežys, Gilvydas Verkauskas

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摘要

背景：混合性腺发育不全是一种罕见的先天性和挑战性疾病，主要表现为45、X/46、XY染色体组型嵌合体、性腺发育不对称和各种内外生殖器解剖。由于生殖器发育经常紊乱，生殖细胞瘤形成的风险更高，这些患者的管理很复杂，需要多学科的方法。病例：我们报告了一名45，X/46，XY混合性腺发育不全患者，该患者在1岁时双侧性腺切除术后被诊断为双侧性腺母细胞瘤。结论：由于恶性转化的风险很高，建议在早期对条纹状性腺进行性腺切除术，并用睾丸固定术进行活检或对遗传异常的睾丸进行性腺切除。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature.

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.

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