Chavhan Govind B, Parra Dimitri A, Oudjhane Kamaldine, Miller Stephen F, Babyn Paul S, Pippi Salle Foao L
Department of Diagnostic Imaging, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
Radiographics. 2008 Nov-Dec;28(7):1891-904. doi: 10.1148/rg.287085034.
Disorders of sex development (DSDs) are congenital conditions in which the development of chromosomal, gonadal, or anatomic sex is atypical. DSDs can be classified broadly into four categories on the basis of gonadal histologic features: female pseudohermaphroditism (46,XX with two ovaries); male pseudohermaphroditism (46,XY with two testes); true hermaphroditism (ovotesticular DSD) (both ovarian and testicular tissues); and gonadal dysgenesis, either mixed (a testis and a streak gonad) or pure (bilateral streak gonads). Imaging plays an important role in demonstrating the anatomy and associated anomalies. Ultrasonography is the primary modality for demonstrating internal organs; genitography is used to assess the urethra, vagina, and any fistulas or complex tracts; and magnetic resonance imaging is used as an adjunct modality to assess for internal gonads and genitalia. Early and appropriate gender assignment is necessary for healthy physical and psychologic development of children with ambiguous genitalia. Gender assignment can be facilitated with a team approach that involves a pediatric endocrinologist, geneticist, urologist, psychiatrist, social worker, neonatologist, nurse, and radiologist, allowing timely diagnosis and proper management.
性发育障碍（DSDs）是一种先天性疾病，其中染色体、性腺或解剖学性别的发育是不典型的。根据性腺组织学特征，DSDs可大致分为四类：女性假两性畸形（46,XX，有两个卵巢）；男性假两性畸形（46,XY，有两个睾丸）；真两性畸形（卵睾性DSD）（既有卵巢组织又有睾丸组织）；以及性腺发育不全，包括混合型（一个睾丸和一条条索状性腺）或单纯型（双侧条索状性腺）。影像学在显示解剖结构和相关异常方面起着重要作用。超声检查是显示内部器官的主要方式；泌尿生殖系统造影用于评估尿道、阴道以及任何瘘管或复杂管道；磁共振成像用作辅助方式来评估内部性腺和生殖器。对于生殖器模糊的儿童，早期且恰当的性别指定对于其身心健康发展是必要的。采用团队协作方法可促进性别指定，该团队包括儿科内分泌学家、遗传学家、泌尿科医生、精神科医生、社会工作者、新生儿科医生、护士和放射科医生，从而实现及时诊断和妥善管理。
