AlJurayyan Nasir
Ann Saudi Med. 2013 Jul-Aug;33(4):363-7. doi: 10.5144/0256-4947.2013.363.
Disorders of sex development (DSDs), formerly termed ambiguous genitalia, are a group of conditions where the external genitalia appear abnormal. It represents a true medical and social emergency that needs a multidisciplinary team approach for elucidation. The pediatric radiologist plays an important role in defining the genital anatomy that remains one of the most important factors in sex determination, in addition to chromosomal analysis.
A retrospective study, conducted between January 1995 and December 2010.
Imaging studies (ultrasound, genitogram, and/or magnetic resonance imaging) were performed in patients with ambiguous genitalia, confirmed by chromosomal analysis and appropriate hormonal investigations.
The sensitivity of ultrasound is 89.5%, while its specificity reaches 100%. Retrograde genitogram is more invasive and less sensitive, as the yield of determining the presence of a uterus +/- vagina is 84.2%. However, magnetic resonance imaging (MRI) is more sensitive for gonadal tissue identification. Its specificity reaches up to 100% and can provide detailed internal structures (uterus, fallopian tubes, and gonads).
Ultrasound examination is still the main modality of choice for screening patients with ambiguous genitalia. It is cheap and readily available everywhere. In addition to elucidating the uterus in 89.5%, it can also give more information on the adrenal glands. However, genitography is good--84.2% in elucidating genital anatomy--but it gives no information of the gonads and it is time consuming and invasive. MRI is helpful in cases with equivocal ultrasound, reaches 100% in elucidating internal extractor, and therefore could be reserved for that.
性发育障碍（DSD），以前称为生殖器模糊，是一组外生殖器外观异常的病症。这是一种真正的医学和社会急症，需要多学科团队协作来进行诊断。除染色体分析外，儿科放射科医生在确定生殖器官解剖结构方面发挥着重要作用，而生殖器官解剖结构仍是性别确定的最重要因素之一。
一项回顾性研究，于1995年1月至2010年12月期间进行。
对经染色体分析和适当激素检查确诊为生殖器模糊的患者进行影像学检查（超声、生殖造影和/或磁共振成像）。
超声的敏感性为89.5%，而其特异性达到100%。逆行生殖造影的侵入性更强且敏感性较低，因为确定子宫±阴道是否存在的成功率为84.2%。然而，磁共振成像（MRI）在性腺组织识别方面更敏感。其特异性高达100%，并能提供详细的内部结构（子宫、输卵管和性腺）。
超声检查仍是筛查生殖器模糊患者的主要选择方式。它价格便宜且随处可得。除了能在89.5%的情况下明确子宫情况外，还能提供更多关于肾上腺的信息。然而，生殖造影在明确生殖器官解剖结构方面效果良好（成功率为84.2%），但无法提供性腺信息，且耗时且具有侵入性。MRI在超声检查结果不明确的情况下很有帮助，在明确内部生殖器官方面成功率达100%，因此可用于此类情况。
