Anorectal and urogenital malformations resulting from defective cloacal development can cause serious health problems in children [4]. The spectrum of anomalies associated with cloacal malformation likely results from the timing of the embryological developmental arrest [5]. The cloaca is a normal, transient embryologic structure in the 4- to 5-week embryo. By the sixth week, the urorectal septum divides the gastrointestinal system from the still combined urinary and genital systems. At 9 weeks, the urogenital septum divides UGS in the female fetus into the urinary and genital tract [1, 6, 7].
Depending on the disruptions in this developmental process, 6 variants of cloacal anomalies have been described [1]. (1) Cloacal dysgenesis: The genitourinary and gastrointestinal tracts merge into a single common canal that terminates without opening to the perineum. (2) Classic or persistent cloaca: The common canal opens into the anterior perineum, where the urethra needs to be opened. (3) Posterior cloaca: The common canal with a single orifice in the region where the anus should be. (4) Persitant urogenital sinus: While the UGS opens to the anterior perineum where the urethra should be, the anus is positioned in its normal position (Fig. 3a). (5) The cloacal variant: As distinct from the persistent urogenital sinus, the anus is positioned immediately in front of the place that should be (Fig. 3b). (6) Posterior cloaca variant: The anus is in its normal location, but the urogenital sinus is located just in front of the anus (Fig. 3c) [1]. Our case shows that different cloacal anomalies can be seen apart from these definitions (Fig. 3d).
There are only two cases of the cloacal variant with recto-urogenital fistula reported by Patankart et al. [8] and Gupta et al. [9] in the literature. However, unlike our case, it is stated that the anus is stenotic and anteriorly located in both cases. It is understood that both cases presented are cloacal variants with recto-vaginal fistula according to the classification described above. In our case, the anus was in normal diameter and localization (Fig. 2). Therefore, our case is the first and only case which PUGS and recto-vaginal fistula coexist in the literature.
Ultrasonography and MRI can be helpful in the diagnosis of such patients in the antenatal period. However, cystoscopy and rectoscopy are much more effective in investigating the common canal length and the presence of a fistula before surgery [1, 2]. In our case, since cystoscopy could not be performed due to UGS stenosis, recto-vaginal fistula could be detected by rectoscopy.
The PUGS is a common feature of a variety of congenital anomalies with XX-DSD due to high androgen exposure in fetal life [10]. A single urogenital opening and hypertrophic phallus can be observed in a female with CAH due to the effect of androgens. The urogenital opening is often located at the base of the phallus. In our case, there was a single opening at the tip of hypertorphic phallus (Fig. 2). In these cases, evaluation of the hormone and electrolyte profile is important for CAH. In the presence of findings suggestive of DSD, careful evaluation of the patient’s hormone and electrolyte profile is recommended to avoid life-threatening situations.
Hydrocolpos is a common condition in cloacal anomalies due to both urinary retention and accumulation of vaginal secretions [7]. Hydronephrosis and fetal ascites may accompany hydrocolpos due to urine or meconium backflow [11, 12]. In our case, aspiration had applied due to fetal ascites in the antenatal period and grade II hydronephrosis was detected in the postnatal period. In these patients, the affected urinary and genital tract should be catheterized to relieve pressure. In addition, in the presence of a recto-vaginal or recto-urogenital fistula, a protective colostomy should be performed.
Although there are some anatomical differences between the different types of UGS, surgical techniques are similar [2]. Initially, the urethra was being completely separated from the vagina, the UGS was being opened into the perineum as the urethra, and the distal vagina was being created with a skin or mucosal flap [13,14,15]. In 1997, Peña [16] described TUM in which UGS was mobilized en-block. With TUM, both a good cosmetic appearance and a result in which all three systems are functional (Fig. 2). However, recto-vaginal closure was also possible in the same session.
