PURPOSE Mixed gonadal dysgenesis is a difference of sex development that is often confused with other conditions. Individuals have a 45,X/46,XY karyotype. Gonads are characterized by a streak gonad and a dysgenetic testis at varying levels of descent. Persistent Müllerian structures are typical (eg, hemi-uterus). There is significant phenotypic heterogeneity of the internal and external genitalia that, together with different interpretations of the definition, have contributed to a poor understanding of the condition among pediatric urologists. Mixed gonadal dysgenesis is one manifestation of the 45,X/46,XY karyotype. 45,X/46,XY mosaicism can also be associated with typical female or male external genitalia. This review aims to clarify the mixed gonadal dysgenesis definition and to provide urologists with diagnostic and management considerations for affected individuals. MATERIALS AND METHODS We searched 3 medical databases for articles related to mixed gonadal dysgenesis. Two hundred eighty-seven full-text abstracts and manuscripts were reviewed for content pertinent to: (1) clarifying the definition of mixed gonadal dysgenesis, and (2) describing the following related to the care of affected individuals: prenatal and neonatal evaluation and management, genital surgery, gonadal malignancy risk and management, fertility, gender dysphoria/incongruence, puberty and long-term outcomes, systemic comorbidities, and transitional care. RESULTS Fifty articles were included. Key points and implications for each of the above topics were summarized. CONCLUSIONS Mixed gonadal dysgenesis exists on a wide phenotypic spectrum and management considerations reflect this heterogeneity. Care for individuals with mixed gonadal dysgenesis is complex, and decisions should be made in a multidisciplinary setting with psychological support.

中文翻译：

---

混合性性腺发育不全：泌尿科医生的叙述性文献综述和临床入门。


目的 混合性性腺发育不全是性发育的差异，经常与其他情况相混淆。个体具有 45，X/46，XY 核型。性腺的特征是性腺条纹和睾丸遗传不良，处于不同的下降水平。持续的苗勒管结构是典型的（例如，半子宫）。内外生殖器存在显着的表型异质性，再加上对定义的不同解释，导致儿科泌尿科医生对病情的理解不足。混合性性腺发育不全是 45，X/46，XY 核型的一种表现。45，X/46，XY 嵌合体也可能与典型的女性或男性外生殖器有关。本综述旨在阐明混合性性腺发育不全的定义，并为泌尿科医生提供受影响个体的诊断和管理考虑。材料和方法 我们在 3 个医学数据库中检索了与混合性性腺发育不全相关的文章。审查了 287 篇全文摘要和手稿的内容，内容与以下相关：（1） 阐明混合性性腺发育不全的定义，以及 （2） 描述与受影响个体护理相关的以下内容：产前和新生儿评估和管理、生殖器手术、性腺恶性肿瘤风险和管理、生育能力、性别焦虑/不一致、青春期和长期结局、全身性合并症、 和过渡期护理。结果 共纳入 50 篇文章。总结了上述每个主题的关键点和影响。结论 混合性性腺发育不全存在于广泛的表型谱上，管理考虑反映了这种异质性。 混合性性腺发育不全个体的护理很复杂，应在多学科环境中做出决策，并提供心理支持。