Zinner and Mayer-Rokitansky-Küster-Hauser syndromes: when unilateral renal agenesis meets genital anomalies

Abstract

Congenital unilateral renal agenesis is a relatively frequent condition at birth diagnosed mostly incidentally. Despite the excellent prognosis, unilateral renal agenesis is associated with an increased risk of other structural abnormalities, including genital malformations. The authors present two cases of asymptomatic adolescents with known congenital unilateral renal agenesis and associated genital malformations solely diagnosed during puberty-a man with Zinner syndrome and a female with Mayer-Rokitansky-Küster-Hauser syndrome.

Keywords: congenital disorders; infant health; paediatrics; radiology.

Figure 1

Asymmetry of the right seminal vesicles, showing a structure that seems to correspond to the enlarged seminal vesicle measuring about 65 mm of greater longitudinal diameter. These changes are admitted to be in a probable relationship with the known congenital abnormalities that may involve the Wolffian ducts.

Figure 2

Ectasia of the ejaculatory ducts of the seminal vesicles, conferring a ‘cystic’, polyploid and partially septate morphology to the seminal vesicles. This feature is more evident on the right side, although it is also evident a more discreet left ductal ectasia. These changes extend to the insertion of the drainage ducts of the seminal vesicles in the prostate.

Figure 3

On the right side of the uterus is identified a tubular structure of homogeneous liquid content, closely related to the right lateral contour of the cervix, isthmus and uterine body. The superior contours are polyploid, which evokes the possibility of excretory renal ectasia, not excluding the possibility of this image correspond to an atrophic and dysmorphic right kidney with ectasia of the excretory system, located in ectopic topography in the pelvic cavity and adjacent to the uterine contour, making a differential diagnosis with hydrometrium and hydrocolpos in the right hemiuterus.