Anal canal duplication in children: a monocentric experience of 12 cases.

PURPOSE: Anal canal duplication is a rare malformation characterized by a second perineal opening positioned behind the anus, which is generally observed at 6 o'clock in the lithotomy position. The purpose was to describe six new cases of anal canal duplication (in addition to our previously reported series of six patients) with the aim of providing further clinical information about this anomaly. METHODS: We described 6 new cases of anal canal duplication in terms of symptoms, anatomical disposition, imaging results, and histopathology. Clinical details of these cases and those already reported (n = 12) were summarized and compared to existing literature. RESULTS: A total of 12 cases were reported over 34 years. 17% of the patients were male, constituting the only subgroup to present a communication with the digestive tract. A single patient, diagnosed at 12 years, was symptomatic. Half of the patients had at least one associated malformation. All patients underwent surgery, either with a posterior sagittal or perineal approach. CONCLUSION: Diagnosis of anal canal duplication should be suspected when a perineal opening positioned behind the anus is present, and necessitates further exploration by a comprehensive clinical examination and imaging. Surgery is always required, typically performed via a posterior sagittal approach. The postoperative course is usually uncomplicated.

Perineal Groove: An Anorectal Malformation Network, Consortium Study.

OBJECTIVE: To review the Anorectal Malformation Network experience with perineal groove (PG) focusing on its clinical characteristics and management. STUDY DESIGN: Data on patients with PG managed at 10 participating Anorectal Malformation Network centers in 1999-2019 were collected retrospectively by questionnaire. RESULTS: The cohort included 66 patients (65 females) of median age 1.4 months at diagnosis. The leading referral diagnosis was anal fissure (n = 20 [30.3%]): 23 patients (34.8%) had anorectal malformations. Expectant management was practiced in 47 patients (71.2%). Eight (17%) were eventually operated for local complications. The median time to surgery was 14 months (range, 3.0-48.6 months), and the median age at surgery was 18.3 months (range, 4.8-58.0 months). In the 35 patients available for follow-up of the remaining 39 managed expectantly, 23 (65.7%) showed complete or near-complete self-epithelization by a mean age 15.3 months (range, 1-72 months) and 4 (11.4%) showed partial self-epithelization by a mean age 21 months (range, 3-48 months). Eight patients showed no resolution (5 were followed for ≤3 months). Nineteen patients (28.7%) were primarily treated with surgery. In total, 27 patients were operated. Dehiscence occurred in 3 of 27 operated patients (11.1%). CONCLUSIONS: PG seems to be an underestimated anomaly, frequently associated with anorectal malformations. Most cases heal spontaneously; therefore, expectant management is recommended. When associated with anorectal malformations requiring reconstruction, PG should be excised in conjunction with the anorectoplasty.

Atypical rectoscrotal and rectoperineal fistula in male anorectal malformations: a case series of non-detaching strategies for preventing urethral injury.

Anorectal malformations (ARM) represent a broad spectrum of patients with different level of the rectum and type of a fistula. Standardized approaches are usually successful, but patients occasionally present with an unusual course of fistula which requires a modified surgical strategy. We present here three male ARM patients with an atypical fistula which did not have connection with the urinary tract, but ran near the fistula. Case 1 has a low-type ARM with a rectoscrotal fistula running deep and partly involved in the corpus spongiosum. Anorectoplasty was performed through an anterior sagittal incision and the anterior wall of the fistula was laid open leaving the posterior wall undetached. Case 2 was diagnosed with an intermediate-type ARM with a long rectoscrotal fistula running near and parallel the urethra. Posterior sagittal anorectoplasty (PSARP) was performed leaving the fistula untouched. Case 3 presented with an intermediate-type ARM with a rectoperineal fistula adherent to the urethra. The patient was treated by PSARP leaving the fistula and part of the muscle coat of the rectum in situ. All the cases were smoothly discharged and no urological complication nor problem associated with the residual fistula was observed at the latest follow-up (17 months-2 years). Preoperative distal colostography with the aid of diverting colostomy was importantly useful for deciding surgical procedure.

A cloacal anomaly is not a disorder of sex development.

AIM OF THE STUDY: Misdiagnosing a cloaca as a disorder of sex development may lead to inappropriate testing, treatment, and negative emotional consequences to families. We were impressed by the fact that a significant number of patients suffering from a cloaca were referred to us with the diagnosis of a "disorder of sex development" previously referred as "ambiguous genitalia" or "intersex". On re-evaluation, none of them truly had a disorder of sex differentiation. This prompted us to conduct the following retrospective review to try to find the cause of the misdiagnosis and the way to prevent it. METHODS: A retrospective review of our colorectal database was performed to identify the total number of patients with cloacas and the number initially diagnosed as "ambiguous genitalia, intersex"/disorder of sex development. The external appearance of their genitalia and unnecessary testing or treatment received were recorded. MAIN RESULTS: A total of 605 patients with cloacas were identified. Of these, 77 (12.7%) were referred to us with the diagnosis of "ambiguous genitalia" and 13 of them (17%) went on to receive an intervention that was not indicated: karyotyping (10), steroids (3), and ovarian biopsy (1). The karyotype result in all patients was XX. The misdiagnosis was triggered by the external appearance of the perineum, simulating a case of virilization with a hypertrophic clitoris, but was simply prominent labial skin. Careful examination of the perineal structure allowed us to determine that it consisted of folded skin with no evidence of corpora. CONCLUSION: Patients born with a cloaca are at risk for mismanagement from being erroneously labeled as disorders of sex development. The diagnosis of a cloacal anomaly is a clinical one. The practitioner must distinguish between phallus-like clitoral hypertrophy and a normal clitoris with prominent labial skin.

Risk factors for the recurrence of perineal canal.

PURPOSE: The aim of this study was to investigate risk factors for recurrence in the perineal canal (PC). METHODS: Patients with PC who underwent operations were enrolled in this study and were divided into recurrence and non-recurrence groups. Preoperative infection, the age at the operation, the presence of colostomy and the treatment procedure for fistula were retrospectively investigated. Regarding the treatment procedure for fistula, either closure of the rectal wall with stitches or ligation of fistula in the rectum was performed. These factors were compared between the two groups. RESULTS: Six of 17 patients with PC who underwent surgical treatment had recurrence. There were no significant differences in the incidence of preoperative infection, age at operation or presence of colostomy (p = 0.60, 0.38, 1.00, respectively). In the recurrence group, all patients were treated by closure of the rectal wall. In the non-recurrence group, five were treated by the closure of the rectal wall with stitches and six by ligation of the fistula. There was a significant association between recurrence and the treatment procedure for fistula (p = 0.04). CONCLUSION: Closure of the rectal wall with stitches is a risk factor for the recurrence of PC.

Gynecological anomalies in patients with anorectal malformations.

PURPOSE: The association of gynecological anomalies in all anorectal malformations (ARM) is firmly established. Our goal is to study this pathology in our patients to focus attention to this important issue. METHODS: Retrospective study of female patients operated for ARM and who underwent magnetic resonance imaging in our center. The type of malformation, the presence and type of vaginal, uterine, tubaric and urological anomalies were studied. RESULTS: 63 patients were included: 34.9% cloaca, 28.6% vestibular and 12.7% perineal. Half of patients had some type of müllerian anomaly; 19 vaginal, most frequent being the longitudinal vaginal septum (66.7%); 30 had uterine alterations, most frequent being the uterus didelphys (60%). Eighty percent of patients with complex ARM (cloaca, exstrophy) presented some type of gynecological malformation compared to 21.8% found in simple ARM (stenosis, perineal, vestibular) (p < 0.001). Vaginal anomalies are associated with a uterine anomaly in 100% of cases. Conversely, patients with uterine anomalies have concurrent vaginal anomaly in 63.3% of cases. CONCLUSION: Screening for gynecological anomalies is indicated in all patients with ARM. We recommend a vaginal examination in any girl with ARM during definitive repair and a subsequent MRI during follow-up. Collaboration with a gynecologist is essential.

Four Cases of Perineal Groove-Experience of a Greek Maternity Hospital.

Perineal groove is a well-defined clinical entity that belongs to a broader group of anorectal malformations. It is characterized by a non-epithelialized mucous membrane that appears as an erythematous sulcus in the perineal midline, extending from the posterior vaginal fourchette to the anterior anal orifice. The defect is gradually cicatrized, unless there are complications like infection, defecation disorders, trauma, and bleeding. The differential diagnosis includes several other conditions like trauma, infection, irritant dermatitis, lichen sclerosis, and ulcerated hemangioma. Since it is a rare malformation, it is often misdiagnosed and its presence often elicits unnecessary diagnostic workup and intervention. In this respect, neonatologists, dermatologists, or pediatric surgeons may under- or overestimate it. We report four cases of perineal groove out of 2250 live births at a Greek Maternity Hospital between September 2016 and April 2019. The "high" incidence of perineal groove cases in our Department allowed us to familiarize with this rare defect and minimize our clinical interventions.

Short-term outcomes of laparoscopic ventral rectopexy for obstructed defecation in patients with overt pelvic structural abnormalities-a Chinese pilot study.

AIM: As laparoscopic ventral rectopexy (LVR) gained increasing popularity in the past decade, studies from non-western area remain rare. The aim of this pilot study is to evaluate the efficacy and safety of LVR for obstructed defecation (OD) in Chinese patients with overt pelvic structural abnormalities. METHODS: A series of 19 consecutive patients is presented undergoing LVR for OD. All patients showed various forms of pelvic structural abnormalities which were verified by dynamic defecography exam. Data was prospectively recorded and the functional outcomes were evaluated using the Cleveland Clinic Constipation Score (CCCS) and Patients Assessment of Constipation Quality of Life Score (PAC-QoL). RESULTS: Pelvic structural abnormalities of the 19 patients included external rectal prolapse (ER) in 10.5% (2/19), high grade internal rectal prolapse (IR) in 57.8% (11/19), rectocele in 52.6% (10/19), enterocele in 15.7% (3/19), cystocele/vaginal prolapse in 15.7 (3/19), descending perineum (DP) in 63.5% (12/19). 89.4% patients (17/19) showed at least two co-existed abnormalities and 15.7% (3/19) showed multicompartmental abnormalities. The mean follow-up was 9 months (range 1-18). No mesh-related complication was observed. At last available follow-up (LAFU), improvement of OD symptom was observed in 15 (78.9%) patients, the mean scores of CCCS decreased from 17 to 10 (p < 0.05), all four subsets of PAC-QoL scores improved, and three of them (physical discomfort, worries and concerns, satisfaction) showed statistical significance (p < 0.05). CONCLUSION: Laparoscopic ventral rectopexy appears to be a safe and effective procedure for obstructed defecation in Chinese patients with overt pelvic structural abnormalities in short-term follow-up.

Perineal groove in female infants: A case series and literature review.

BACKGROUND: Perineal groove is a rare congenital malformation that is unknown to many clinicians and is often misdiagnosed. Although it may be self-resolving during childhood, this nonepithelized mucous membrane can pose the risk of local irritation and infection, particularly urinary tract infection. METHODS: A retrospective study of female infants diagnosed with a perineal groove was performed, demographic characteristics and clinical features were analyzed, and a photographic review was conducted. RESULTS: Five patients with perineal groove were observed in our clinic in 2015-16. The mean age was 14 months. None had symptoms, and no treatment was required. During follow-up of 1 year, all remained asymptomatic. CONCLUSIONS: Our retrospective review suggests that perineal groove may be an underdiagnosed condition. Most cases resolve spontaneously, but confusion in diagnosis may lead to misdiagnosis or misinterpretation of sexual abuse and unnecessary treatments.

Newborn With a Perineal Lesion.

• Perineal groove is described as a wet sulcus lined with mucoumembrane extending from the posterior fourchette to the anterior anus • Perineal grooves are rarely described in literature but ar likely more common in practice. • The underlying pathogenesis and embryologic origin of perineal grooves are poorly understood. • Perineal grooves generally self-resolve by 1 year of age. • Surgical intervention is rarely indicated but can be considered for rare complications (infections, mucus drainage) or for cosmetic purposes, usually after 2 years of age. • Recognition of this mild anomaly can eliminate unnecessary (and potentially invasive) testing and procedures.

Bowel functional outcomes in females with perineal or vestibular fistula treated with anterior sagittal anorectoplasty: controlled results into adulthood.

BACKGROUND: Anterior sagittal anorectoplasty is a standardized operative treatment for females with congenital rectoperineal or vestibular fistula. The controlled, long-term outcomes require characterization. OBJECTIVE: The aim of this study was to define the bowel functional outcomes following anterior sagittal anorectoplasty in relation to age- and sex-matched controls. DESIGN: This cross-sectional study was conducted at a single institution. PATIENTS: All females treated for congenital perineal or vestibular fistula with anterior sagittal anorectoplasty between 1983 and 2006 were invited to answer a detailed, previously validated questionnaire on bowel function. Each patient was matched to 3 controls who had answered identical questionnaires. Ethical approval was obtained. Social continence was defined as soiling or fecal accidents <1/week and no requirement for changes of underwear or protective aids. SETTING: This study was conducted at the Hospital for Children and Adolescents, University of Helsinki, Finland. INTERVENTIONS: No interventions were performed. MAIN OUTCOME MEASURES: The primary outcomes measured were the prevalence of problems with rectal sensation, voluntary bowel control, soiling, fecal accidents, constipation, and social problems. Bowel function score (out of 20 items) was considered, as well as the age at completion of toilet training for stool. RESULTS: Of 34 respondents (79%; median age, 13 (4-28) years), all had voluntary bowel movements. Problems withholding defecation, soiling, and fecal accidents were significantly more common among patients than controls (p ≤ 0.001). Eighty-five percent of patients and 100% of controls (p = 0.001) were socially continent; 41% of patients and 76% of controls were totally continent (p = 0.0003). Constipation tended to decline with age (from 59% to 25%; p = 0.16). The bowel functional outcome was good in 68% of patients, satisfactory in 26% of patients, and poor in 6% of patients. Diapers for stool had been discontinued at the same median age as controls. LIMITATIONS: Number of patients in comparative analysis of symptoms by age group. CONCLUSIONS: After anterior sagittal anorectoplasty for perineal or vestibular fistula, 2 of 3 of patients are likely to achieve bowel control comparable to normal in the long term, and the vast majority will be socially continent. The effective treatment of constipation is essential.

[Relationship between anogenital distance and cryptorchidism in human newborns].

OBJECTIVE: To explore the relation of the anogenital distance (AGD) with cryptorchidism in male newborns. METHODS: This study included 350 male infants delivered in two community hospitals between September 2013 and September 2014. Within 24 hours after birth, a pediatric surgeon measured the AGD of the neonates and determined whether they had cryptorchidism. According to the testicular position, we divided the undescended testes into three types: upper scrotal, inguinal, and non-palpable. RESULTS: Totally 39 cases of cryptorchidism were found in the 350 newborns. The AGD of the cryptorchidism infants was significantly shorter than that of the normal neonates ([2.01 ± 0.22] vs [2.35 ± 0.19] cm, P < 0.01), and statistically significant differences remained even when preterm and low birth-weight infants were excluded ([2.32 ± 0.14] vs [2.06 ± 0.19] cm; (2.37 ± 0.17) cm vs (2.12 ± 0.12) cm, all P < 0.01). The newborns with higher-position cryptorchidism had a shorter AGD, though with no significant difference (F = 0.434, P > 0.05). No significant differences were observed in the AGD between unilateral and bilateral cryptorchidism ([1.96 ± 0.13] vs [2.02 ± 0.17] cm, P > 0.05). CONCLUSION: Shorter AGD is associated with a higher incidence of cryptorchidism in male newborns. AGD could serve as a potential biomarker for disruption of androgen action during the male programming window period.

[Perineal groove in pediatric gynecology: a report of 2 cases]. / Surco perineal en ginecología infantil: reporte de 2 casos clínicos.

INTRODUCTION: the perineal groove is a very uncommon anorectal anomaly. It is the result of an unknown embryology anomaly. The perineal groove is a wet sulcus extending from de fourchette to the anus. It is a benign pathology and tends to resolve spontaneously. OBJECTIVE: We report two cases of girls diagnosed with perineal groove and their follow up. CASES REPORTS: The first case is an 18 days old baby girl, that during her first clinical examination there was found a painless lineal lesion in the perineum from the fourchette to the anus, which created a big anxiety in her family. She was cared at the Pediatric Gynecology Unit, with local lubrication, doing well with the epithelization of it. The second case is an 8 year-old girl who consulted because, when being a child, she was diagnosed with a perineal lesion, but she didn't receive any special treatment and now she feels some aches in the perineum. CONCLUSIONS: The perineal groove is a benign entity pretty unknown by general practitioners or pediatricians. It is important to be up to date with this condition to avoid alarming misinterpretations.

Perineal canal: a special entity of anorectal malformations in Vietnam.

PURPOSE: We report our clinical experience with the perineal canal and suggest the management. MATERIALS AND METHODS: Retrospective chart review of patients with perineal canal were classified by lesion characteristics into Group I: active perineal inflammation, Group II: vulvar excoriation and Group III: no active inflammation. Group III patients underwent primary surgical repair. Group I and II patients underwent repair after medical management. The fistula was repaired by the modified Tsuchida's technique consisting of an anterior anopullthrough and excision of the fistula tract (reverse order). RESULTS: Between September 1999 and August 2003, we treated 120 cases of perineal canal. Group I, II and III consisted of 74, 12 and 34 patients, respectively. In two patients of Group I (2.7%), the fistula tract spontaneously closed. The remaining 118 patients were surgically treated with the modified Tsuchida's technique. Recurrences were similar between patients treated with colostomy (1/28 or 3.6%) versus without colostomy (3/90 or 3.0%), as well as between patients initially treated with primary repair (3/102 or 2.9%) versus patients undergoing reoperation with redo repair (1/16 or 6.25%). CONCLUSIONS: With proper initial medical treatment, the perineal canal could be repaired successfully in one stage with the modified Tsuchida's technique.

Misdiagnosis of Congenital Posterior Urethroperineal Fistula and Comparison With Urethral Duplications and Rectourethral Fistula.

Congenital posterior urethroperineal fistula (CUPF) is a urothelium-lined tract between the posterior urethra and perineum. This condition is rare and has been proposed to be a urethral duplication variant. A case of CUPF that was misdiagnosed and surgically treated as a rectourethral fistula is presented. The clinical presentation, diagnosis, and treatment of CUPF are discussed and compared with those of Y-type urethral duplications and H-type rectourethral fistulas.

A double blind randomized controlled trial using copper impregnated maternity sanitary towels to reduce perineal wound infection.

OBJECTIVE: To investigate the effect of copper impregnated sanitary towels on the infection rate following vaginal delivery (VD). DESIGN: Single center double blind randomized controlled trial. PARTICIPANTS: Women aged 18 or over who had a sutured second-degree tear or episiotomy following VD. INTERVENTIONS: All women were randomized to receive either a copper-oxide impregnated sanitary towel (study group) or a non-copper sanitary towel (control group). MAIN OUTCOME MEASURES: The primary study outcome was the incidence of wound infection within a 30-day period from VD, assessed via telephone questionnaire. Secondary outcomes were length of hospital stay and risk factors of infection. RESULTS: 450 women were enrolled in the study of whom 225 were randomized to the copper impregnated sanitary towel (study group) and 225 to the non-copper sanitary towel (control group) group. Follow-up rate was 98.2%. A total of 102 women (23.1%) developed an infection within 30 days following VD, 19 in the study group (8.6%) and 83 (37.4%) in the control group (P = <0.001, absolute risk reduction (ARR) of 28.8%). The incidence of superficial/deep and organ/space infections was significantly lower in the study group (7.7% vs. 30.2%, P = <0.001 and 4.6% vs. 31.5%, P = <0.001 respectively) with an ARR of 22.5% and 27.0% respectively. Multivariable analysis reported Asian ethnicity and prolonged rupture of membranes as significant risk factors; for the development of infection (OR 1.91, P = 0.03 and OR = 1.97, P = 0.04 respectively). CONCLUSIONS: This is the first study to demonstrate a significant reduction in infection rate following VD with the use of copper impregnated sanitary towels.

Perineal groove-a case report.

The perineal groove is a rare congenital anomaly of the perineum. We present a case of this uncommon condition that had been misinterpreted as irritant dermatitis following treatment for diaper rash. To our knowledge this is the first report of this condition is the dermatology literature.