Eur J Pediatr Surg 2024; 34(06): 482-487
DOI: 10.1055/a-2244-4551
Original Article

Anatomical Variations of the External Genitalia in Posterior Cloaca: Clinical Consequences of Misdiagnosis—A Systematic Review of the Literature and the ARM-Net Consortium Experience

1   Department of Pediatric Surgery, Centro Hospitalar Universitário do Porto EPE Centro Materno-Infantil do Norte Dr Albino Aroso, Porto, Portugal
2   Department of Pediatric Surgery, Centro Hospitalar Universitário do Porto EPE, Porto, Portugal
,
Anna Morandi
3   Department of Pediatric Surgery, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milano, Italy
,
Inbal Samuk
4   Department of Pediatric Surgery, Schneider Children's Medical Center of Israel, Petah Tikva, Israel
,
Carlos Gine
5   Department of Pediatric Surgery, Vall d'Hebron University Hospital, Barcelona, Catalunya, Spain
,
Ramon Gorter
6   Department of Pediatric Surgery, Emma Childrens' Hospital UMC, Amsterdam, Noord-Holland, The Netherlands
,
Maria Jose Martinez-Urrutia
7   Department of Pediatric Urology, Hospital Universitario La Paz, Madrid, Spain
,
Alejandra Vilanova-Sánchez
8   Department of Pediatric Surgery, Hospital Universitário La Paz, Madrid, Spain
› Author Affiliations
 

Abstract

Purpose All types of cloacal malformations may be associated with anatomic variations of the external genitalia, including hypoplasia of the labia minora and enlarged clitoris; these variations could be even higher in posterior cloacas (PCs). If a careful physical examination is not performed, patients may be misdiagnosed with ambiguous genitalia (AG), leading to subsequent unnecessary testing, surgeries, or even wrong gender assignment. The aim was to analyze data of patients with PC within the ARM-Net registry, focusing on the description of the genitalia, gender assignment, and its consequences. Additionally, we investigated the presence of AG diagnosis in utero or at birth in patients with PC in the literature.

Methods The ARM-Net registry was scanned for PC cases and data on diagnosis were collected. A systematic literature search was conducted using the PubMed, EMbase, and Web-of-Science databases. Descriptive statistics was used to report data.

Results Nine patients with PC were identified in the ARM-Net registry. Five patients (55%) were diagnosed with AG, two (22%) were assigned as males and only two patients were correctly assigned as females and diagnosed with PC with respective variations of external genitalia. All patients diagnosed with AG had extensive blood testing including karyotype and hormonal studies. One of the patients who was diagnosed as a male, had surgery for pelvic cystic mass removal, which ultimately led to unaware salpingo-oophorectomy, hysterectomy, and vaginectomy. In the literature we identified 60 patients, 14 (23%) with AG, 1 with clitorolabial transposition and 1 with undeveloped vulva and vagina; 4 patients had normal anatomy. In 40 (67%) patients the anatomy of genitalia was not mentioned.

Conclusion Patients with PC are at high risk of being diagnosed with AG or even assigned the wrong gender at birth. In our series two patients were assigned as males, and consequently one of them underwent a highly mutilating surgery. A thorough physical examination together with a high index of suspicion and laboratory workup are mandatory to identify these variations, avoiding further investigations, unnecessary surgeries, and parental stress.


#

Introduction

Cloacal malformations involve a wide spectrum of anomalies of the lower genitourinary and colorectal tract, with different prognosis in terms of urinary, bowel, and sexual function, as well as quality of life. Establishing the correct diagnosis of persistent cloaca can sometimes represent a difficult task, because the classic appearance of a single perineal orifice with female external genitalia will not be evident.[1]

Posterior cloaca (PC) is a unique defect in which the urethra and the vagina fuse together into a urogenital sinus that deviates posteriorly and opens into the anterior rectal wall or immediately anterior to the anus. Typically, in this defect, the anus is correctly located and also has a pectinate line.[2]

Independently on the type or prognosis, it is known that cloacal malformations are associated with anatomic variations of the external genitalia including hypoplasia of the labia minora and enlarged clitoris. Bischoff et al published that patients with more complex cloacal malformation such as patients with longer common channels have a greater chance of presenting with these anatomical variations.[3] These variations may lead to incorrect diagnosis such as a “disorder of sex development” previously referred as “ambiguous genitalia” or “intersex.” Overall, it is estimated that the incidence of female pseudohermaphroditism misdiagnosis in patients with cloacal malformation is approximately 7 to 18%[3] [4]; in the particular case of PC, the association appears to be even more common.[3]

These anatomical variations lead to questioning these females' gender, parental stress, and carrying unnecessary testing or/and surgical procedures. However, a meticulous palpation of the “phallic-appearing” structure would allow the clinician to confirm that there is only redundant skin and no palpable corpora, unlike in patients with congenital adrenal hyperplasia, where the clitoris is hypertrophied from excess of adrenal androgens and therefore will result enlarged, with palpable corpora or erectile tissue.[3]

Having this in mind, we aimed to investigate the presence of ambiguous genitalia in utero or at birth in patients specifically with PC in the literature. Parallelly, we analyzed the ARM-Net Consortium registry to find patients with PC, focusing on the description of the genitalia, gender assignment, and its consequences.


#

Material and Methods

A systematic literature search was conducted by two independent researchers in November 2022 using the PubMed, EMbase, and Web-of-Science databases. Studies in English were searched in PubMed using the following search terms: (cloaca[mesh] NOT enterobacter[mesh]) OR anus, imperforate[mesh]) AND posterior OR variant OR sinus (surger*[tw] OR surgic*[tw] OR operat*[tw] OR reconstruct*[tw]) AND (gender*[tw] OR genitalia*[tw] OR ((cloaca*[tw] OR anus*[tw] OR anal[tw] OR anorect*[tw] OR urorectal*[tw] OR rectal*[tw] OR rectum*[tw] OR urogenit*[tw] OR urologic*[tw] OR vagina*[tw]) AND (malform*[tw] OR abnormal*[tw] OR imperforat*[tw]) AND (surger*[tw] OR surgic*[tw] NOT (animals[mesh] NOT humans[mesh]) NOT medline[sb]).

For the other databases similar search terms were conducted which included all the publications describing patients with PC. We selected articles according to their title and abstracts for revision. Both researchers read the selected articles in full and analyzed them. Occasional divergence in selection was resolved by consensus (i.e., some articles did not describe properly the anatomy and was difficult to differentiate urogenital sinus from PC). Upon reading the articles, we performed a secondary search with the selection of articles from the bibliography contained in the primary documents of the previous search.

The ARM-Net Consortium is a group of European professionals including pediatric surgeons, epidemiologists, geneticists, and patient advocacy groups, that was established in 2010.[5] The aim of ARM-Net Consortium is to collect data and exchange knowledge, by promoting research on anorectal malformations (ARMs) to improve clinical care and quality of life of ARM patients.

The ARM-Net Consortium established the ARM-Net patient registry where data are included prospectively for patients born from 2011, and retrospectively for patients born from 2007 till 2011. This project of dedicated volunteers has successfully registered more than 2,600 ARM patients across Europe.

By November 2022 ARM-Net Consortium members and steering committee were reached out to ask for permission to search through the registry to identify all the patients classified as PC. Once the patients were identified, we contacted the ARM-Net members who included patients into the database via e-mail to ask whether they wanted to participate in the project. After agreement to participate was obtained, they were asked to collect further clinical data. Data were exported for analysis, creating an Excel database and stored according to the Data Protection Act. Results are reported using descriptive statistics.


#

Results

ARM-Net Registry Research

Until end of February 2023, a total of 2,619 patients were included in the ARM-Net registry. Nine patients in the registry (0.3%) were reported to have PC ([Table 1]).

Table 1

Patients with PC identified in the ARM-Net registry

Patients

1

2

3

4

5

6

7

8

9

Prenatal diagnosis and interventions

 Prenatal diagnosis

x

x

x

x

x

x

x

  Cystic pelvic mass

x

x

x

x

  Bilateral hydronephrosis

x

x

x

  Megacystis

x

x

  Ambiguous genitalia

x

x

  Male genitalia

x

x

  Fetal ascitis

x

x

  Oligohydramnios

x

x

x

  Colonic dilation

x

 Prenatal MRI

x

x

 Amniocentesis

x

x

x

 Fetal surgery (vesicoamniotic shunt)

x

Perinatal examination and study

 Gestational age (in wk)

34

33

38

34

NR

32

NR

32

36

 Physical examination at birth

  Single posterior perineal orifice

x

x

x

x

x

x

x

  Posterior perineal orifice with accessory atretic urethra

x

x

  Ambiguous genitalia

x

x

x

x

x

x

x

  “Male” genitalia

x

x

  Severe abdominal distension

x

  Acute kidney failure

x

x

 Female sex assignment

x

x

x

x

x

x

x

Neonatal intervention

 Colostomy

x

x

x

x

x

x

x

 Vesicostomy

x

x

x

x

x

 Vaginostomy

x

x

x

 Vaginal septum division and drainage

x

x

Hormonal and endocrine study

 Thyroid function

x

x

x

x

 Androgens

x

x

x

x

x

 Array CGH

x

x

Definitive repair

 Transrectal urogenital mobilization

x

x

x

x

x

 Age at definitive repair (in mo)

10

12

3

11

NR

6

6

NY

24

Abbreviations: CGH, comparative genomic hybridization; MRI, magnetic resonance imaging; NR, not reported; NY, not yet corrected; PC, posterior cloaca.


Patients were born between the years 2010 and 2022. Median maternal age was 29 years (27–49). Seven (78%) had prenatal diagnosis of an abnormality: pelvic mass (N = 4), bilateral hydronephrosis (N = 3), megacystis (N = 2), and fetal ascites (N = 3). Two patients had fetal imaging performed (magnetic resonance imaging [MRI]; patients 2 and 4).

Of our cohort, five patients (56%) were diagnosed with ambiguous genitalia (patients 1, 2, 3, 8, and 9), either pre- or postnatally, and two (patients 4 and 7) were assigned with male gender at birth. [Fig. 1] shows the appearance of the external genitalia of one of the patients described as having ambiguous genitalia.

Zoom Image
Fig. 1 Patient with posterior cloaca (PC) diagnosed with ambiguous genitalia pre- and postnatally. Hormonal and karyotype studies were performed and she was then assigned as female.

All these patients were intensively investigated, namely, with endocrine and hormonal studies and karyotype. Of the patients identified as males, patient 4 had a prenatally diagnosed cystic pelvic mass, bilateral hydronephrosis, polyhydramnios, and fetal hydrops. A fetal MRI was obtained, identifying a cystic pelvic mass of 72 × 75 × 87 mm, a caudal cyst of 20 × 17 × 25 mm, bilateral hydronephrosis, bladder compression, and polyhydramnios. At birth, this patient was assigned as male, based on external genitalia examination. The patient required high-frequency oscillatory ventilation due to massive abdominal distension that caused severe respiratory distress. Urgent laparotomy was required, an intraoperative biopsy of the mass reported the diagnosis of “teratoma” and the cystic mass was therefore removed. The postoperative definitive pathology reported the cystic mass as uterine body with dilated vaginal cavity, together with ovarian tissue. Subsequent karyotype confirmed female gender (46, XX). Patient 7 was born and given male gender based on physical examination; after extensive investigation, karyotype was consistent with female gender.

Only two patients (patients 5 and 6) were correctly assigned as females and diagnosed with PC with respective variations of external genitalia.


#

Systematic Review

After revision of our search (see [Fig. 2]), a total of 14 articles with case reports of patients with PC were identified, encompassing a total of 60 patients ([Table 2]).[1] [2] [6] [7] [8] [9] [10] [11] [12] [13] [14] [15] [16] [17]

Zoom Image
Fig. 2 Systematic review search flow.
Table 2

Systematic review of PC patients

Reference

N

External genitalia description

Posterior cloaca with accessory urethra[7]

1 patient

Clitoromegaly

Posterior cloaca—further experience and guidelines for the treatment of an unusual anorectal malformation[2]

29 patients

No mention to genitalia

Posterior cloaca: a rare subtype of a complex anorectal malformation[8]

1 patient

Ambiguous genitalia; late diagnosis

Posterior cloaca: a unique defect[9]

9 patients[a]

No mention to genitalia

Posterior cloaca: a urogenital rather than anorectal anomaly[10]

7 patients

5 patients with ambiguous genitalia, of which 2 had clitoromegaly

Posterior cloaca variant with clitorolabial transposition and a rectoperineal fistula[12]

1 patient

Clitorolabial transposition

Rare association of female pseudohermaphroditism, phallic urethra and posterior cloaca[13]

1 patient

Ambiguous genitalia

A unique defect – persistent posterior cloaca: An example of staged genito-urinary and digestive tract reconstruction with an alternative vaginal creation using the urinary bladder wall[15]

1 patient

No external genitalia

An unusual case of type a posterior cloaca associated with 46xx disorder of sexual differentiation with y duplication of urethra[16]

1 patient

Ambiguous genitalia

Unusual variety of posterior cloaca[17]

2 patients

No mention to genitalia

Posterior cloaca: multicenter experience of a very rare and unusual anorectal and genitourinary malformation[11]

4 patients

3 patients with ambiguous genitalia

Reverse (posterior) cloaca with congenital rectal stenosis and pseudohermaphroditism: a rare entity with rare association[14]

1 patient

Ambiguous genitalia

Newborn with persistent cloaca presenting with accessory phallic urethra and ambiguous genitalia[1]

1 patient

Ambiguous genitalia

Duplication of accessory phallic urethra (urethra triplication) in the female, signaling mesenchymal interruptions of the cloacal membrane as a cause for sagittal urethral duplications[6]

1 patient, demised soon after birth

Ambiguous genitalia

Abbreviation: PC, posterior cloaca.


Note: A total of 60 patients were identified.


a Two articles from Peña et al were included, with two groups of posterior cloaca patients; we assumed they were different patient groups.


Of these patients, only 20 (33%) had descriptions of the external genitalia; 14 (23%) had anatomical variations described as with ambiguous genitalia, 1 had clitorolabial transposition, and 1 had underdeveloped vulva and vagina. Only four patients (7%) had normal female anatomy. In this review, in 8 out of the 14 case reports, patients had extensive analytical investigation, namely, with karyotype definition and hormonal studies, all revealing 46, XX female patients with no hormonal abnormalities.


#
#

Discussion

In the current study, we present a systematic review on PC with special emphasis on the reported findings of ambiguous genitalia and the consequences of this misdiagnosis in female patients with PC; this came after we realized how common it appears to incorrectly diagnose these patients and conduct unnecessary tests, sometimes invasive ones, for expected anomalies associated with PC.

After our ARM-Net registry revision, nine patients were identified. As we previously described, more than half had genital anomalies, and two patients were wrongly assigned as males.

The first description of PC was published by Peña and Kessler in 1998[9] and it represents a rare variant of cloacal anomaly with only 60 cases reported in the literature.[1] [2] [6] [7] [8] [9] [10] [11] [12] [13] [14] [15] [16] [17] Opposing classic cloaca, where a single perineal orifice is located at the urethral situs, draining the fusion of the urethra, vagina, and rectum, in PC the urogenital sinus is posteriorly deviated, opening in the anterior rectal wall, which is normally located or slightly anterior to the sphincter complex.[2] [8] [9] [18] However, differences between classic cloaca and PC go beyond anatomy; it has been described by Peña that there is a greater association of both hydrocolpos (65 vs. 25%) and urological malformations (93 vs. 59–91%) compared with classic cloaca, even in cases of long common channel.[2] In the case of genital abnormalities, it is no exception, and genital ambiguity appears to be more common in PC than in other cloacal variants.[3] The first description of genital anomalies and phallus-like in cloaca girls or patients with urogenital sinus defects was by Broster in 1956.[19] In the literature, many papers do not describe these anatomical variations (only 20/60 patients had anatomical genital descriptions); however, in the small number where a description is made, a very significant proportion of anatomical genital variations is reported, with 14/20 described with ambiguous genitalia or other variations. In our revision of the ARM-Net registry, we found that 55% of PC girls had some form of ambiguous genitalia. This comes in line with our notion that in PC the incidence of genital abnormalities is very high, even higher than in other cloacal anomalies. This had been previously noted by Bischoff et al, where 21% of cloaca patients with misdiagnosis of disorders of sexual development had PC variant, a percentage which largely surpasses the 4% of PC incidence in their study.[3] Other studies had described the incidence of this pseudohermaphroditism in cloaca patients of around 7.4%[4]; again, in PC it appears to be higher.

As we can infer from normal karyotype and hormonal studies, genital anomalies in cloaca patients are not hormonal-mediated and there are some theories explaining these genital variations. McMullin and Hutson suggested that masculinization of the external genitalia is secondary to fundamental derangement of urogenital development, where the early perineal anomaly permits an independent phallic growth and genital folds fusion, independently of androgen control.[20]

As described by Karlin et al, these phallus-like structures do not contain developed corpora cavernosa and the urethra may be absent, very narrow, and hypoplastic or near normal. This canal may represent the common cloacal channel, the urethrovaginal channel, or an accessory opening into the malformation.[4] [21] A careful physical examination at birth is sufficient to differentiate these girls from disorders of sexual development, as in cloacas the phallus-like structure is represented only by excess clitoral skin, with an absence of penile erectile components.[3]

As we realized from our cohort, unawareness of this condition may lead to disastrous situations. In cases of PC, a careful physical examination is sufficient to diagnose and lead the necessary investigations and surgical procedures. It was almost global that these patients had intense endocrinological and genetical testing, as they were probably studied as disorders of sexual development. From previous reports, we know that cloacas are not associated with disorders of sexual development and should not be studied as such.[3]

This invasive and expensive testing, not exempt from possible complications for the patients, only feeds high level of parental stress and uncertainty, with no advantage for the patients' care.


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Conclusion

PC is a rare subtype of cloacal malformation, with only 60 cases reported in the literature, and is the subtype mostly associated with genital anomalies. For this reason, patients with PC are at risk of misdiagnosis of ambiguous genitalia, disorders of sexual development, or even wrongful gender assignment. In the ARM-Net database, of the nine PC patients, two were assigned as males; after this misdiagnosis, one of them suffered mutilating surgery with unaware salpingo-oophorectomy, hysterectomy, and vaginectomy. With a high suspect index together with a careful physical examination, this is avoidable and a correct diagnosis is possible, preventing all the unnecessary and possibly harmful testing and surgical procedures.


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Conflict of Interest

None declared.

  • References

  • 1 Braga LH, Whelan K, DeMaria J, Pippi-Salle JL. Newborn with persistent cloaca presenting with accessory phallic urethra and ambiguous genitalia. Urology 2011; 78 (03) 680-683
  • 2 Peña A, Bischoff A, Breech L, Louden E, Levitt MA. Posterior cloaca–further experience and guidelines for the treatment of an unusual anorectal malformation. J Pediatr Surg 2010; 45 (06) 1234-1240
  • 3 Bischoff A, Trecartin A, Alaniz V, Hecht S, Wilcox DT, Peña A. A cloacal anomaly is not a disorder of sex development. Pediatr Surg Int 2019; 35 (09) 985-987
  • 4 Karlin G, Brock W, Rich M, Peña A. Persistent cloaca and phallic urethra. J Urol 1989; 142 (04) 1056-1059
  • 5 de Blaauw I, Wijers CH, Schmiedeke E. et al. First results of a European multi-center registry of patients with anorectal malformations. J Pediatr Surg 2013; 48 (12) 2530-2535
  • 6 van der Putte SC. Duplication of accessory phallic urethra (urethra triplication) in the female, signaling mesenchymal interruptions of the cloacal membrane as a cause for sagittal urethral duplications. Pediatr Dev Pathol 2009; 12 (06) 487-492
  • 7 Fathi K, Dávidovics S, Pintér A. Posterior cloaca with accessory urethra [in Hungarian]. Orv Hetil 2005; 146 (16) 753-755
  • 8 Eshiba A, Eshiba S, Kotb M, Khairi A, Hassan H. Posterior cloaca: a rare subtype of a complex anorectal malformation. Congenit Anom (Kyoto) 2021; 61 (06) 234-235
  • 9 Peña A, Kessler O. Posterior cloaca: a unique defect. J Pediatr Surg 1998; 33 (03) 407-412
  • 10 AbouZeid AA, Mohammad SA, Shokry SS, El-Naggar O. Posterior cloaca: a urogenital rather than anorectal anomaly. J Pediatr Urol 2021; 17 (03) 410.e1-410.e7
  • 11 Kapoor R, Gupta A, Yadav PS, Mandelia A. Posterior cloaca: multicenter experience of a very rare and unusual anorectal and genitourinary malformation. J Indian Assoc Pediatr Surg 2022; 27 (06) 707-712
  • 12 Maistry N, Brisighelli G, Westgarth-Taylor C. Posterior cloacal variant with clitorolabial transposition and a rectoperineal fistula. European J Pediatr Surg Rep 2021; 9 (01) e46-e49
  • 13 Macarthur M, Mahomed A. Rare association of female pseudohermaphroditism, phallic urethra, and posterior cloaca. J Pediatr Surg 2006; 41 (03) 576-579
  • 14 Ahmed I, Kureel SN, Chandra N. Reverse (posterior) cloaca with congenital rectal stenosis and pseudohermaphrodism: a rare entity with rare association. BMJ Case Rep 2010; 2010: bcr0620103071
  • 15 Komasara L, Bryks-Laszkowska A, Sroka M, Gołębiewski A, Czauderna P. A unique defect - persistent posterior cloaca: an example of staged genito-urinary and digestive tract reconstruction with an alternative vaginal creation using the urinary bladder wall. Int J Urol 2017; 24 (06) 468-471
  • 16 Gupta RK, Tiwari P, Parelkar SV. et al. An unusual case of type a posterior cloaca associated with 46xx disorder of sexual differentiation with y duplication of urethra. J Indian Assoc Pediatr Surg 2022; 27 (02) 251-254
  • 17 Sau I, Warne SA, Wilcox DT. Unusual variety of posterior cloaca. J Urol 2004; 171 (03) 1291
  • 18 Jacobs SE, Tiusaba L, Al-Shamaileh T. et al. Fetal and newborn management of cloacal malformations. Children (Basel) 2022; 9 (06) 888
  • 19 Broster LR. A form of intersexuality. BMJ 1956; 1 (4959) 149-151
  • 20 McMullin ND, Hutson JM. Female pseudohermaphroditism in children with cloacal anomalies. Pediatr Surg Int 1991; 6: 56-59
  • 21 Chadha R, Kothari SK, Tanwar US, Gupta S. Female pseudohermaphroditism associated with cloacal anomalies: faulty differentiation in the caudal developmental field. J Pediatr Surg 2001; 36 (07) E9

Address for correspondence

Catarina Carvalho, MD
Department of Pediatric Surgery, Centro Hospitalar Universitário do Porto EPE Centro Materno-Infantil do Norte Dr Albino Aroso
Largo da Maternidade Júlio Diniz, Porto 4450
Portugal   

Publication History

Received: 01 November 2023

Accepted: 10 January 2024

Accepted Manuscript online:
12 January 2024

Article published online:
12 February 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

  • References

  • 1 Braga LH, Whelan K, DeMaria J, Pippi-Salle JL. Newborn with persistent cloaca presenting with accessory phallic urethra and ambiguous genitalia. Urology 2011; 78 (03) 680-683
  • 2 Peña A, Bischoff A, Breech L, Louden E, Levitt MA. Posterior cloaca–further experience and guidelines for the treatment of an unusual anorectal malformation. J Pediatr Surg 2010; 45 (06) 1234-1240
  • 3 Bischoff A, Trecartin A, Alaniz V, Hecht S, Wilcox DT, Peña A. A cloacal anomaly is not a disorder of sex development. Pediatr Surg Int 2019; 35 (09) 985-987
  • 4 Karlin G, Brock W, Rich M, Peña A. Persistent cloaca and phallic urethra. J Urol 1989; 142 (04) 1056-1059
  • 5 de Blaauw I, Wijers CH, Schmiedeke E. et al. First results of a European multi-center registry of patients with anorectal malformations. J Pediatr Surg 2013; 48 (12) 2530-2535
  • 6 van der Putte SC. Duplication of accessory phallic urethra (urethra triplication) in the female, signaling mesenchymal interruptions of the cloacal membrane as a cause for sagittal urethral duplications. Pediatr Dev Pathol 2009; 12 (06) 487-492
  • 7 Fathi K, Dávidovics S, Pintér A. Posterior cloaca with accessory urethra [in Hungarian]. Orv Hetil 2005; 146 (16) 753-755
  • 8 Eshiba A, Eshiba S, Kotb M, Khairi A, Hassan H. Posterior cloaca: a rare subtype of a complex anorectal malformation. Congenit Anom (Kyoto) 2021; 61 (06) 234-235
  • 9 Peña A, Kessler O. Posterior cloaca: a unique defect. J Pediatr Surg 1998; 33 (03) 407-412
  • 10 AbouZeid AA, Mohammad SA, Shokry SS, El-Naggar O. Posterior cloaca: a urogenital rather than anorectal anomaly. J Pediatr Urol 2021; 17 (03) 410.e1-410.e7
  • 11 Kapoor R, Gupta A, Yadav PS, Mandelia A. Posterior cloaca: multicenter experience of a very rare and unusual anorectal and genitourinary malformation. J Indian Assoc Pediatr Surg 2022; 27 (06) 707-712
  • 12 Maistry N, Brisighelli G, Westgarth-Taylor C. Posterior cloacal variant with clitorolabial transposition and a rectoperineal fistula. European J Pediatr Surg Rep 2021; 9 (01) e46-e49
  • 13 Macarthur M, Mahomed A. Rare association of female pseudohermaphroditism, phallic urethra, and posterior cloaca. J Pediatr Surg 2006; 41 (03) 576-579
  • 14 Ahmed I, Kureel SN, Chandra N. Reverse (posterior) cloaca with congenital rectal stenosis and pseudohermaphrodism: a rare entity with rare association. BMJ Case Rep 2010; 2010: bcr0620103071
  • 15 Komasara L, Bryks-Laszkowska A, Sroka M, Gołębiewski A, Czauderna P. A unique defect - persistent posterior cloaca: an example of staged genito-urinary and digestive tract reconstruction with an alternative vaginal creation using the urinary bladder wall. Int J Urol 2017; 24 (06) 468-471
  • 16 Gupta RK, Tiwari P, Parelkar SV. et al. An unusual case of type a posterior cloaca associated with 46xx disorder of sexual differentiation with y duplication of urethra. J Indian Assoc Pediatr Surg 2022; 27 (02) 251-254
  • 17 Sau I, Warne SA, Wilcox DT. Unusual variety of posterior cloaca. J Urol 2004; 171 (03) 1291
  • 18 Jacobs SE, Tiusaba L, Al-Shamaileh T. et al. Fetal and newborn management of cloacal malformations. Children (Basel) 2022; 9 (06) 888
  • 19 Broster LR. A form of intersexuality. BMJ 1956; 1 (4959) 149-151
  • 20 McMullin ND, Hutson JM. Female pseudohermaphroditism in children with cloacal anomalies. Pediatr Surg Int 1991; 6: 56-59
  • 21 Chadha R, Kothari SK, Tanwar US, Gupta S. Female pseudohermaphroditism associated with cloacal anomalies: faulty differentiation in the caudal developmental field. J Pediatr Surg 2001; 36 (07) E9

Zoom Image
Fig. 1 Patient with posterior cloaca (PC) diagnosed with ambiguous genitalia pre- and postnatally. Hormonal and karyotype studies were performed and she was then assigned as female.
Zoom Image
Fig. 2 Systematic review search flow.