Posterior cloaca: A rare subtype of a complex anorectal malformation

Eshiba, Ahmed; Eshiba, Samar M.; Kotb, Mostafa; Khairi, Ahmed; Hassan, Hebatallah Hassan Mamdouh

doi:10.1111/cga.12440

Cited by 2 publications

(3 citation statements)

References 5 publications

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“…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.…”

Section: Discussionmentioning

confidence: 99%

“…2), a total of 14 articles with case reports of patients with PC were identified, encopassing a total of 60 patients (Table 2). [1,2,[6][7][8][9][10][11][12][13][14][15][16][17]. 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.…”

Section: Accepted Manuscriptmentioning

confidence: 99%

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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

Carvalho,

Morandi,

Samuk

et al. 2024

Eur J Pediatr Surg

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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 (PC). If a careful physical examination is not performed, patients may be misdiagnosed with ambiguous genitalia, 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 ambiguous genitalia (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 2 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 forty (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 lab workup are mandatory to identify these variations, avoiding further investigations, unnecessary surgeries, and parental stress.

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Section: Discussionmentioning

confidence: 99%

Section: Accepted Manuscriptmentioning

confidence: 99%

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

Carvalho,

Morandi,

Samuk

et al. 2024

Eur J Pediatr Surg

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“…[Figure 1a] Initial diagnosis is difficult in girls with normal looking external genitalia as they have a normal anal opening and manual separation of the labia reveals the absence of urethral and vaginal openings. [1] The ideal repair is Total Urogenital Mobilization by an anterior sagittal incision via transperineal (in cases with a short common channel or 2 separated orifices) [Figure 1b] or transanorectal approach (in longer common channels or when the UGS opens in anterior rectal wall). As the rectum is usually normally located within its sphincteric mechanism, these girls have normal sensation, a normal sphincter mechanism and potential for full bowel control, except those having severe sacral deformities.…”

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confidence: 99%

Posterior cloaca: A rare complex anomaly

Banerjee

Bendre

2022

WJWCH

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Coined by Alberto Peña, "posterior cloaca" is a unique defect in females in which a urogenital sinus (UGS) deviates posteriorly to open into the anterior wall of a normally located anorectum (type A) or in the perineum slightly anterior to the anus (type B). [Figure 1a] Initial diagnosis is difficult in girls with normal looking external genitalia as they have a normal anal opening and manual separation of the labia reveals the absence of urethral and vaginal openings. [1] The ideal repair is Total Urogenital Mobilization by an anterior sagittal incision via transperineal (in cases with a short common channel or 2 separated orifices) [Figure 1b] or transanorectal approach (in longer common channels or when the UGS opens in anterior rectal wall). As the rectum is usually normally located within its sphincteric mechanism, these girls have normal sensation, a normal sphincter mechanism and potential for full bowel control, except those having severe sacral deformities. [2]

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Posterior cloaca: A rare subtype of a complex anorectal malformation

Cited by 2 publications

References 5 publications

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

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

Posterior cloaca: A rare complex anomaly

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