Abstract
To help physicians and radiologists in the diagnosis of female genito-urinary malformations, especially of complex cases, the embryology of the female genital tract, the basis for Müllerian development anomalies, the current classifications for such anomalies and the comparison for inclusion and cataloguing of female genital malformations are briefly reviewed. The use of the embryological system to catalogue female genito-urinary malformations may ultimately be more useful in correlations with clinical presentations and in helping with the appropriate diagnosis and treatment. Diagnostic imaging of the different genito-urinary anomalies are exposed, placing particular emphasis on the anomalies within group II of the embryological and clinical classification (distal mesonephric anomalies), all of them associated with unilateral renal agenesis or dysplasia. Similarly, emphasis is placed on cases of cervico-vaginal agenesis, cavitated noncommunicated uterine horns, and cloacal and urogenital sinus anomalies and malformative combinations, all of them complex malformations. Diagnostic imaging for all these anomalies is essential. The best imaging tools and when to evaluate for other anomalies are also analysed in this review.Teaching points• The appropriate cataloguing of female genital malformations is controversial.• An embryological classification system suggests the best diagnosis and appropriate management.• The anomalies most frequently diagnosed incorrectly are the distal mesonephric anomalies (DMAs).• DMAs are associated with unilateral renal agenesis or renal dysplasia with ectopic ureter.• We analyse other complex malformations. Diagnostic imaging for these anomalies is essential.
Highlights
It is important to identify abnormalities of the female reproductive tract as they are associated with a range of gynaecological and obstetric problems
Imaging and cataloguing of female genital malformations are important, but have the following prerequisites: (1) knowledge of the embryology of the female genito-urinary tract and interaction between the Wolffian/Müllerian ductal systems; (2) knowledge of anomalies involved in the classical Müllerian development as well as the septum resorption processes
Based on our experience and an updated literature review, the clinical presentation and different diagnostic imaging tools are briefly analysed for each female genital malformation
Summary
It is important to identify abnormalities of the female reproductive tract as they are associated with a range of gynaecological and obstetric problems. Imaging and cataloguing of female genital malformations are important, but have the following prerequisites: (1) knowledge of the embryology of the female genito-urinary tract and interaction between the Wolffian/Müllerian ductal systems; (2) knowledge of anomalies involved in the classical Müllerian development as well as the septum resorption processes. Several published cases showing a septate uterus with double cervix and vagina and normal uterus with septate cervix and vagina [23,24,25] questioned the classic hypothesis of unidirectional Müllerian development and supported the alternative embryologic hypothesis of Müller et al [26], which states that fusion and resorption begin at the isthmus and proceed simultaneously in both the cranial and caudal directions. Based on our experience and an updated literature review, the clinical presentation and different diagnostic imaging tools are briefly analysed for each female genital malformation
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