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Background: Persistent urogenital sinus is a rare cloacal anomaly in which the urinary and genital tracts cannot be differentiated during embryonic development. However, the presence of concomitant recto-urogenital sinus or recto- vaginal fistula is much rarer. In the literature, only two cases with accompanying fistula have been presented so far. Case presentation: We present the diagnosis and treatment management of a persistent urogenital sinus case with recto-vaginal fistula. We also aimed to reveal the difference between our patient, who is the 3rd case in the litera- ture, and the other two and the described cloacal anomalies. By performing total urogenital sinus mobilization and fistula repair, the three systems were separated from each other, and both a functional and cosmetic appearance was obtained. Conclusion: It should be kept in mind that there may be different variants other than the defined cloacal malforma- tions. In patients with cloacal malformation, cystoscopy and rectoscopy should be performed to reveal the anatomy before reconstructive surgery in order to avoid any unexpected situation. Keywords: Cloaca, Urogenital sinus, Dysgenesis, Fistula, Hydrocolpos Background . In this article, we present a new variant of cloacal The developmental mechanisms of malformations affect - anomaly, a case of PUGS with a recto-vaginal fistula in ing the urogenital and anorectal systems are still under which the anus is normally positioned. debate . The urorectal septum divides the cloaca into two different systems, the urogenital and anorectal sys - Case presentation tems. These two systems are named differently based Our case was born by cesarean section from the first on the number and location of the perineal openings. pregnancy of a 23-year-old mother at the 36th gestational In the presence of two perineal openings the urogenital week, weighing 2300 g. The patient was referred to our and the anus, the possibilities include the persistent uro- clinic on the 4th day of delivery for the disorder of sex- genital sinus (PUGS), the cloaca variant or the posterior ual development (DSD) and intraabdominal cystic mass. cloacal variant [1, 2]. PUGS is a cloacal anomaly with an A 9 × 6 cm cystic structure with thick walls pressing on incidence of 6/100,000 . This situation may occur as a the bladder was reported in ultrasonography (Fig. 1a). result of high intrauterine androgen exposure, anorectal On physical examination, there was a hypertrophic phal- malformation, or an isolated form independently of both lus with a single opening at the tip. The anus was seen in normal localization and diameter on the perineal exami- nation. In addition, bilateral gonads were not palpable, *Correspondence: email@example.com and the scrotum was undeveloped (Fig. 1b). Urinary drainage was observed from both the urogeni- Faculty of Medicine, Department of Pediatric Surgery, Gaziantep University, Gaziantep 27310, Turkey tal opening and anus during the abdominal examination. © The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. Zeytun et al. Annals of Pediatric Surgery (2023) 19:2 Page 2 of 5 Fig. 1 a Hydrocolpos ultrasound image. b Hypertrophic phallus and external UGS meatus. c Genitography. d Rectoscopy image (c, catheter; v, vagina; u, urethra) No abnormalities were detected in the hormone and mobilization (TUM) and fistula repair were performed electrolyte results of the patient with the 46-XX geno- in the patient at the 6th month of life (Fig. 2). Proplem type. The bladder and vagina could not be visualized in was not observed in the patient’s controls. The presen - the genitogram because the given contrast agent passed tation and photographing of this case were carried out into the rectum (Fig. 1c). When entering through the with the written consent of the parents. urogenital opening with the cystoscope, stenosis which did not allow the passage was detected. Subsequently, Discussion the urethral opening was catheterized, and it was seen Anorectal and urogenital malformations resulting that the inserted catheter was in the rectum when rec- from defective cloacal development can cause seri- toscopy was performed. During rectoscopy, the wide ous health problems in children . The spectrum of recto-vaginal fistula which the catheter passed, the anomalies associated with cloacal malformation likely dilated vagina, and just above it the urethra were seen results from the timing of the embryological devel- (Fig. 1d). PUGS with recto-vaginal fistula was consid - opmental arrest . The cloaca is a normal, transient ered, and intra-abdominal cystic structure was inter- embryologic structure in the 4- to 5-week embryo. By preted as hydrocolpos. It was determined that the the sixth week, the urorectal septum divides the gas- position of the anus was normal with anal stimulator trointestinal system from the still combined urinary examination, and its calibration was normal with an and genital systems. At 9 weeks, the urogenital septum 11-mm Hegar dilator. Subsequently, the patient under- divides UGS in the female fetus into the urinary and went a colostomy. Simultaneously, a Foley catheter was genital tract [1, 6, 7]. inserted into the bladder while a percutaneous catheter Depending on the disruptions in this developmen- was placed in the uterine cavity. Total urogenital sinus tal process, 6 variants of cloacal anomalies have been Z eytun et al. Annals of Pediatric Surgery (2023) 19:2 Page 3 of 5 our case, it is stated that the anus is stenotic and ante- riorly 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 local- ization (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 con - genital anomalies with XX-DSD due to high androgen exposure in fetal life . A single urogenital opening and hypertrophic phallus can be observed in a female with CAH due to the effect of androgens. The urogeni - tal 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 electro- lyte profile is recommended to avoid life-threatening Fig. 2 Stages of total urogenital sinus mobilization ( TUM) surgery situations. Hydrocolpos is a common condition in cloacal anomalies due to both urinary retention and accumu- lation of vaginal secretions . Hydronephrosis and described . (1) Cloacal dysgenesis: The genitouri - fetal ascites may accompany hydrocolpos due to urine nary and gastrointestinal tracts merge into a single or meconium backflow [11, 12]. In our case, aspiration common canal that terminates without opening to the had applied due to fetal ascites in the antenatal period perineum. (2) Classic or persistent cloaca: The common and grade II hydronephrosis was detected in the post- canal opens into the anterior perineum, where the ure- natal period. In these patients, the affected urinary and thra needs to be opened. (3) Posterior cloaca: The com - genital tract should be catheterized to relieve pressure. mon canal with a single orifice in the region where the In addition, in the presence of a recto-vaginal or recto- anus should be. (4) Persitant urogenital sinus: While urogenital fistula, a protective colostomy should be the UGS opens to the anterior perineum where the performed. urethra should be, the anus is positioned in its normal Although there are some anatomical differences position (Fig. 3a). (5) The cloacal variant: As distinct between the different types of UGS, surgical techniques from the persistent urogenital sinus, the anus is posi- are similar . Initially, the urethra was being completely tioned immediately in front of the place that should be separated from the vagina, the UGS was being opened (Fig. 3b). (6) Posterior cloaca variant: The anus is in its into the perineum as the urethra, and the distal vagina normal location, but the urogenital sinus is located just was being created with a skin or mucosal flap [13–15]. In in front of the anus (Fig. 3c) . Our case shows that 1997, Peña  described TUM in which UGS was mobi- different cloacal anomalies can be seen apart from these lized en-block. With TUM, both a good cosmetic appear- definitions (Fig. 3 d). ance and a result in which all three systems are functional There are only two cases of the cloacal variant with (Fig. 2). However, recto-vaginal closure was also possible recto-urogenital fistula reported by Patankart et al.  in the same session. and Gupta et al.  in the literature. However, unlike Zeytun et al. Annals of Pediatric Surgery (2023) 19:2 Page 4 of 5 Fig. 3 a Persitant urogenital sinus. b The cloacal variant. c Posterior cloacal variant. d Persistant urogenital sinus with recto-vaginal fistula (A, anus; R, rectum; U, uterus; B, bladder; F, fistula; UGS, urogenital sinus) Declarations Conclusion As a result, it should be kept in mind that there may Ethics approval and consent to participate be different variants other than the defined cloacal The ethics committee the Faculty of Medicine, Gaziantep University, does not require ethical approval for reporting individual cases or case series. malformations. Cystoscopy and rectoscopy are vital in investigating the common canal length and pres- Consent for publication ence of a fistula. TUM appears to be a good option The presentation and photographing of this case were carried out with the written consent of the parents. for the surgical treatment of PUGS with long com- mon canal and rectovaginal fistula. However, close Competing interests follow-up for urinary incontinence and retention is The authors declare that they have no competing interests. recommended after surgery. With a well-planned Received: 24 April 2022 Accepted: 22 November 2022 one-stage surgical approach, a good cosmetic appear- ance can be achieved in which all three systems are functional. Acknowledgements References Not applicable 1. Dannull KA, Browne LP, Meyers MZ. The spectrum of cloacal malforma- tions: how to differentiate each entity prenatally with fetal MRI. Pediatr Authors’ contributions Radiol. 2019;49:387–98. H.Z. wrote the article and performed the surgical operation. A.D. per- 2. Ludwikowski BM, González R. The surgical correction of urogenital sinus formed the surgical operation and took photographs. B.H.O. contributed in patients with DSD: 15 years after description of total urogenital mobili- to the critical review of the article. The authors read and approved the final zation in children. 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A new 1-stage procedure for clitorovaginoplasty in severely masculinized female pseudohermaprodites. J Urol. 1989;142:565–8. 16. Peña A. Total urogenital mobilization - an easier way to repair cloacas. J Pediatr Surg. 1997;32:263–8. Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in pub- lished maps and institutional affiliations.
Annals of Pediatric Surgery – Springer Journals
Published: Jan 9, 2023
Keywords: Cloaca; Urogenital sinus; Dysgenesis; Fistula; Hydrocolpos
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