Onesti Maria Giuseppina, Maruccia Michele, Sorvillo Valentina, Parisi Paola, Fanelli Benedetta, Ruggieri Martina, Manganaro Lucia, Scuderi Nicolò
Ann Ital Chir. 2014 Sep-Oct;85(5):454-8.
Congenital genitalia anomalies are a spectrum of malformation, difficult to classify because similar or identical phenotypes could have several different aetiology; therefore it's essential to assess an efficient diagnostic algorithm for a quick diagnosis and to develop an efficient therapeutic strategy. The aim of this study is to underline the importance of imaging in case of ambiguous genitalia due to its high sensitivity and specificity in detecting internal organs and urogenital anatomy.
We report a case of a young girl affected by a complex genitor-urinary malformation with an initial wrong anamnesis that led to a tricky diagnosis.
Imaging techniques - especially Magnetic Resonance Imaging (MRI) - together with karyotype, hormones and physical investigations, offered complete and reliable informations for the best surgical treatment of our patient.
Karyotype, hormones investigation, and radiological examinations are the main criteria considered in the diagnostic iter. Ultrasonography (US) is the primary modality for the detection of the presence or absence of gonads and müllerian derivatives, whereas Cystourethrography can define urethral and vaginal tract or the presence of fistulas. In our experience MRI, due to its multiplanar capability and superior soft tissue characterization, proved to be useful to provide detailed anatomic information.
先天性生殖器异常是一系列畸形，难以分类，因为相似或相同的表型可能有几种不同的病因；因此，评估一种有效的诊断算法以快速诊断并制定有效的治疗策略至关重要。本研究的目的是强调影像学在两性生殖器模糊病例中的重要性，因为其在检测内部器官和泌尿生殖解剖结构方面具有高敏感性和特异性。
我们报告一例年轻女孩，患有复杂的生殖泌尿系统畸形，最初的病史有误，导致诊断棘手。
影像学技术——尤其是磁共振成像（MRI）——与核型分析、激素检测及体格检查一起，为我们的患者提供了完整且可靠的信息，以进行最佳手术治疗。
核型分析、激素检测和放射学检查是诊断过程中考虑的主要标准。超声检查（US）是检测性腺和苗勒管衍生物有无的主要方式，而膀胱尿道造影可确定尿道和阴道通道或瘘管的存在。根据我们的经验，MRI因其多平面成像能力和出色的软组织特征，被证明有助于提供详细的解剖信息。
