Transition Care from Adolescence to Adulthood: A 10-Year Service Review of the Gynecological Implications for Young Women and Girls Born with Cloacal Anomalies

doi:10.1016/j.jpag.2021.01.001

Journal of Pediatric and Adolescent Gynecology

Volume 34, Issue 3, June 2021, Pages 412-414

https://doi.org/10.1016/j.jpag.2021.01.001 Get rights and content

Abstract

Study Objective

To establish the gynecological and reproductive outcomes for girls born with a cloacal anomaly, seen in a pediatric specialist cloaca clinic.

Design

Local approval was granted to conduct this review. Outcomes were retrospectively identified using healthcare records.

Participants

Girls with known cloacal anomaly, seen in the cloaca clinic between 2009 and 2019, who had attained menarche or received gynecological input.

Results

Nine females met the inclusion criteria, who were 12-30 years old. The mean age of menarche was 12 years (SD = 1.29). Two developed obstructed menstruation, requiring surgical intervention. Vaginal stenosis affected all women. Three women underwent revision surgery, and 1 is awaiting surgery. None of the women have attempted a pregnancy, to our knowledge.

Conclusion

Cloacal anomaly is a rare complex condition. Female individuals with cloacal anomaly require multidisciplinary gynecology specialist care throughout adolescence and adulthood. Provision of a dedicated gynecological service could improve the quality of life of these women.

Introduction

Cloacal anomaly is a rare congenital malformation in which the urethra, vagina, and rectum drain into a shared tract with a single exit through the perineum. Cloacal anomaly is estimated to affect 1 in 50,000 live births.¹ It is commonly associated with other congenital anomalies, including VACTERL anomalies (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities).² Prompt surgical intervention is required at birth to manage immediate complications, to establish anatomy, and to reduce the risk of complications in the postnatal period.¹^,³ Formal cloaca repair is normally performed during the first year of life.³

Advancements in surgical and medical practice have significantly improved the life expectancy and quality of life of women with cloacal malformation. With this improvement, the gynecological outcomes for these young women, including sexual functioning and reproductive goals, have become more significant. Although gynecological complications are known to be common among these women, there is a lack of data regarding long-term gynecological and reproductive outcomes.⁴ This limits the capacity for healthcare providers to deliver informed counseling to women and their families.

The pediatric cloaca service, a highly specialized multidisciplinary clinic, was established in 2009, at The Great North Children's Hospital in Newcastle upon Tyne in England. It is designed to address the complex needs of girls born with cloacal anomalies. The service involves a range of specialities including pediatric surgery, pediatric urology, and psychology services, as well as specialist gynecological input. We aimed to conduct a service review to establish the gynecological and reproductive outcomes of women cared for in this clinic. We hope that the findings will provide insight into the gynecological implications for women with cloacal anomalies.

Section snippets

Materials and Methods

We conducted a service review of the pediatric cloaca clinic to identify the gynecological and reproductive outcomes of girls born with cloacal anomalies. Healthcare records of all women cared for in the clinic between September 2009, when the clinic was first established, and October 2019 were retrospectively reviewed. The inclusion criteria were young girls and women with a documented cloacal anomaly who had either attained menarche or required gynecological input. Information extracted

Results

We identified 29 young women cared for in the clinic between September 2009 and October 2019. Of these, 9 met the inclusion criteria. Fifteen girls were excluded because they had not yet reached menarche or received gynecological input; 2 girls had moved to different regions prior to receiving gynecological input; and 3 girls did not have a documented cloacal anomaly. The age range of the included girls was 12-30 years of age, and the average age was 20 years. The gynecological outcomes

Discussion

The gynecological outcomes identified in this review are comparable to those reported elsewhere in the literature.⁴^,⁵ Most girls with cloacal anomaly will require gynecology input during adolescence and adulthood. Gynecology services were introduced at the time of expected menarche; this is when complications such as obstructed menstruation first manifest.⁴^,⁵ Young girls may benefit from having gynecological services, in the form of an experienced pediatric gynecologist, introduced at an

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Cloaca, the most severe degree of imperforate anus: experience with 195 cases
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Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association
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Cloacal malformations: lessons learned from 490 cases
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Gynecologic concerns in the treatment of teenagers with cloaca
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Long-term gynecological outcome of patients with persistent cloaca
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Cited by (9)

Discrepancies Between Imaging Reports and Operative Findings in Patients With Cloaca: A Call for Expansion of the Mullerian Anomalies Classification
2024, Journal of Pediatric Surgery
There is wide variation in the language used to describe Mullerian structures. To standardize terminology, the American Society of Reproductive Medicine (ASRM) created the Mullerian Anomalies Classification (MAC) in 2021. The objective of this study was to evaluate the applicability of the MAC nomenclature to pediatric patients with cloaca.
A retrospective review of all patients with cloaca was performed at a single institution. Descriptions of Mullerian structures were evaluated and compared to the ASRM MAC categories. Descriptive statistics were used to report findings.
36 patients with cloaca were identified, 13 (36%) of whom had congenital Mullerian structures that could not be adequately described by the MAC terminology. All 13 patients had two hemiuteri that were not connected in the midline and were not accurately described as uterus didelphys. Additionally, 5 of these 13 patients had reproductive anatomy that was connected by a fistula or ectopic connection to other pelvic structures.
Despite the ASRM expansion of the Mullerian anomalies nomenclature, more than a third of our patients with cloaca could not have their Mullerian structures accurately described. Describing anatomy with accurate and consistent language can improve communication between healthcare providers and may allow patients and families to better anticipate fertility options.
Retrospective.
IV.
Considerations and Outcomes for Adolescents and Young Adults With Cloacal Anomalies: A Scoping Review of Urologic, Colorectal, Gynecologic and Psychosocial Concerns
2024, Urology
The objective of this scoping review is to provide a summary of the current literature regarding adolescents and young adults with histories of cloacal anomalies. Preferred Reporting Items for Systematic Reviews and Meta-analysis Extension for Scoping Reviews were used. Data were categorized into four domains—urologic, colorectal, gynecologic/obstetric, and sexual/psychosocial. The current literature has poor study quality and mostly consists of retrospective studies of small cohorts with varying definitions of outcomes. Women with cloacal anomalies are at high risk for urologic dysfunction but can maintain kidney health and achieve social continence with medical and surgical management. Sexual function and adult healthcare transition are areas ripe for improved future research.
Successful Use of Acellular Small Intestinal Submucosa Graft in Vaginal Reconstruction
2024, Journal of Pediatric Surgery
Various techniques for neovaginal construction have been employed in the pediatric and adult populations, including the use of intestinal segments, buccal mucosal grafts, and skin grafts. Small intestinal submucosa (SIS) extracellular matrix grafts have been described as a viable alternative, though prior experience is limited. Our purpose was to assess operative characteristics and patient outcomes with neovaginal construction using SIS grafts.
Thirteen patients underwent vaginoplasty with acellular porcine SIS grafts at our institution between 2018 and 2022. Operative and clinical data, postoperative mold management, vaginal dilating length, and complications were reviewed.
Age at time of repair ranged from 13 to 30 years (median 19 years). Patient diagnosis included cloacal anomalies (n = 4), Mayer-Rokitansky-Küster-Hauser syndrome (n = 4), isolated vaginal atresia with or without a transverse vaginal septum (n = 4), and vaginal rhabdomyosarcoma requiring partial vaginectomy (n = 1). Following dissection of the neovaginal space, a silicon mold wrapped with SIS graft was placed with retention sutures and removed on postoperative day 7. Median (IQR) operative time was 171 (118–192) minutes, estimated blood loss was 10 (5–20) mL, and length of stay was 2 (1–3) days. The follow-up period ranged from 3 to 47 months (median 9 months). Two patients developed postoperative vaginal stenosis that resolved with dilation under anesthesia. Mean vaginal length on latest follow-up was 8.97 cm. All thirteen patients had successful engraftment and progressed to performing self-dilations or initiating intercourse to maintain patency. There were no cases of graft reaction or graft extrusion.
We conclude that acellular small intestinal submucosa grafts are effective and safe alternatives for mold coverage in neovaginal construction. Our experience demonstrates minimal perioperative morbidity, early mold removal, and progression to successful dilation with maintenance of a functional vaginal length. Future study on sexual outcomes, patient satisfaction, and comparison against alternative techniques has been initiated.
IV.
Retrospective Study.
After anoplasty for anorectal malformations: Issues continue in adolescence and adulthood
2023, Seminars in Colon and Rectal Surgery
Advancements in the surgical and medical care of anorectal malformation (ARMs) have led to greater life expectancy and improved quality of life. Patients with ARM frequently experience fecal incontinence (17–77 %), constipation (23–87 %), and rectal prolapse (4–60 %). Upper urinary tract abnormalities occur in 40-83 %, leading to end-stage renal disease in 5–18 % and kidney transplantation in 2–8 %. Urinary incontinence occurs in 0–41 % of patients. Mullerian anomalies occur in up to 60 % of patients, and 36–41 % present with hematometra, which may impact fertility. Cryptorchidism is seen in 19 % and may lead to reduced paternity rates. Sexual dysfunction impacts 6–66 % of patients and coital debut is delayed, often due to fear of flatus or soiling. While fertility rates vary, childbirth is still possible. However, pregnancies carry a higher risk of miscarriage and premature delivery, and delivery via Cesarean section is recommended. Malignancy is uncommon, but patient anatomy is imperative to consider when assessing cancer risk, screening needs, and the impact of cancer treatment. Depression and anxiety occur in 80 %, with up to 15 % reporting suicidal ideation, yet only 12–40 % receive treatment. The high prevalence of ongoing complications highlights the need for continued multidisciplinary care after index ARM repair.
Reproductive and Family Building Considerations for Female Patients with Anorectal And Urogenital Malformations
2023, Journal of Pediatric Surgery
Citation Excerpt :
These challenges are important for clinicians to be aware of and their suggested management are reported below reflect the experience of the authors, their patients, and available literature on the topic. Multiple series have reported impaired fertility among women with complex ARM [1–3,10,15]. Within our series, three women pursued IVF, for which two became pregnant, and another woman had children via surrogacy.
Little is known about fertility and pregnancy outcomes in patients with anorectal malformations (ARM), particularly those with long common channel cloaca and cloacal exstrophy who may have impaired fertility. The purpose of this study is to describe pregnancy and offspring data from a cohort of patients with ARM.
A retrospective review of female patients with ARM from our database, which includes patients operated on since 1980, was performed as well as a review of the literature. Demographic, operative, and self-reported fertility, obstetric, and offspring data were collected.
There were 37 females identified in our database who reported any pregnancy or having children. There were 59 pregnancies, 48 (81.3%) of which resulted in live birth. The most common mode of delivery was cesarean delivery. There were five patients with long channel cloaca (>3 cm) and one with cloacal exstrophy that reported 11 total pregnancies, eight of which resulted in live birth. Four cloaca patients in which the native vagina was pulled through were able to conceive spontaneously. Three patients with cloacal anomalies required in vitro fertilization to conceive; one was unsuccessful. No patients who underwent bowel partial vaginal replacement became pregnant. Women with ARM face many unique challenges in assisted reproduction, pregnancy, and delivery owing to their anatomy and associated anomalies.
Women with recto-perineal, recto-vestibular, and cloacas in which the native vagina was pulled through are capable of spontaneous pregnancy. Assisted reproduction, however, may be needed those with more complex anomalies and surgical repairs.
IV.
Single institution experience of cloacal malformation
2023, Journal of Pediatric Surgery
Citation Excerpt :
The aim of this study is to report long-term outcomes of patients with a cloacal malformation, managed at our institution, with urological and colorectal outcomes, and most importantly the long-term renal function. The gynaecological outcomes have been published previously in 2021 [18] We have recorded the details of all cloacal malformation patients receiving definitive care more than the last 28 years.
The aim of this study is to report on the outcomes of patients born with cloacal malformation, managed at a single institution more than the last 28 years. The focus of this study is the long term renal and colorectal outcomes.
Patients were identified from the departmental database from 1994 to 2021. The medical records and operative notes were retrospectively reviewed.
Twenty-one patients fulfilled the inclusion criteria. Eleven long common channel (LCC) and ten short common channel (SCC) cloacae patients were identified. Median age at the time of primary reconstruction was 11 months in both groups. In the LCC group, seven (63.6%) patients underwent a Total Urogenital Mobilisation (TUM), and 4 (36.4%) required a vaginal replacement. 6/11 (54.5%) of patients required drainage of a hydrocolpos. In the SCC group, four patients required a TUM, two patients underwent mobilisation of the rectum and vagina alone, and three underwent rectal mobilisation alone. Two patients have required renal transplant for congenital renal dysplasia, and two have developed chronic renal failure associated with the sequalae of vesicoureteric reflux. Eleven (52.3%) of the patients manage their bowels with an antegrade continent enema (ACE), and two of the LCC cloaca are defunctioned with a colostomy. Clean intermittent catheterisation is performed by 12 (57%) of the patients, either per urethra or via a Mitrofanoff channel.
The urinary and faecal continence are the main challenges in the management of cloaca patients. Many require surgical intervention to achieve social continence.
Level IV.

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: The authors report no proprietary or commercial interest in any product mentioned or concept discussed in this article.

: The findings in this paper were reported as a prize-winning presentation at the Annual Update in Paediatric and Adolescent Gynaecology Meeting, London UK, March 2020.

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Brief ReportTransition Care from Adolescence to Adulthood: A 10-Year Service Review of the Gynecological Implications for Young Women and Girls Born with Cloacal Anomalies

Abstract

Study Objective

Design

Participants

Results

Conclusion

Introduction

Section snippets

Materials and Methods

Results

Discussion

Cloaca, the most severe degree of imperforate anus: experience with 195 cases

Ann Surg

Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association

Congenit Anom (Kyoto)

Cloacal malformations: lessons learned from 490 cases

Semin Pediatr Surg

Gynecologic concerns in the treatment of teenagers with cloaca

J Pediatr Surg

Long-term gynecological outcome of patients with persistent cloaca

J Urol

Brief Report
Transition Care from Adolescence to Adulthood: A 10-Year Service Review of the Gynecological Implications for Young Women and Girls Born with Cloacal Anomalies