Neonatal Single-Stage Surgical Management of Complicated Distal Vaginal Atresia: Revisiting an Appropriate and Feasible Technique.

BACKGROUND/PURPOSE: Hydrometrocolpos is distension of the vagina and uterus with fluid other than pus or blood. It is due to distal vaginal obstruction, and one of its possible causes is agenesis of the distal vagina. Patients with distal vaginal atresia may present in the neonatal period due to stimulation of uterine and cervical glands by maternal estrogen. In this study, we presented our results in managing neonates with complicated hydrometrocolpos due to distal vaginal atresia through a single-stage abdomino-perineal pull-through vaginoplasty. METHODS: During the period from July 2003 to June 2018, neonates presented to the Department of Pediatric Surgery, Faculty of Medicine, Ain Shams University with complicated hydrometrocolpos (complicated with obstructive uropathy, intestinal obstruction, urinary tract infection, or systemic sepsis) due to distal vaginal atresia were included in the study. All the patients underwent single-stage abdomino-perineal pull-through vaginoplasty with drainage of the accumulated fluid. The patients were followed up for re-accumulation of fluid or vaginal stenosis for at least 4 years after the procedure. RESULTS: During the specified period, 14 neonates with complicated hydrometrocolpos due to distal vaginal atresia (complicated with obstructive uropathy, intestinal obstruction, urinary tract infection, or systemic sepsis) presented to the Department of Pediatric Surgery, Faculty of Medicine, Ain Shams University and underwent single-stage abdomino-perineal pull-through vaginoplasty with drainage of the accumulated fluid. Their age ranged between 4 and 18 days (mean 10, median 8). Two patients (14%) developed vaginal stenosis, which responded well to dilatation, and none of the patients had re-accumulation of the fluid during the follow-up period. CONCLUSION: Single-stage abdomino-perineal pull-through vaginoplasty in neonates with complicated distal vaginal atresia (complicated with obstructive uropathy, intestinal obstruction, urinary tract infection, or systemic sepsis) is an appropriate and feasible technique with a satisfactory outcome. TYPE OF THE STUDY: Treatment study. LEVEL OF EVIDENCE RATING: IV.

Hydrometrocolpos: a Contemporary Review of the Last 5 Years.

PURPOSE OF REVIEW: The goal of this review is to provide a comprehensive overview of hydrometrocolpos, covering disease etiology, pathophysiology, clinical presentation, and diagnostic and management techniques, and known outcomes. RECENT FINDINGS: This narrative review presents the literature on hydrometrocolpos in the pediatric population from the past 5 years. We highlight the 69 reported cases of hydrometrocolpos and classify them based on type of obstruction or associated anomaly, discuss new diagnostic algorithms based on imaging, and present novel and underutilized surgical techniques for definitive management. Hydrometrocolpos, a condition characterized by retained fluid causing a distended vagina and uterus in the setting of a distal vaginal outflow obstruction, has a wide range of presentation severity based on the type of obstruction. Whether hydrometrocolpos is due to an isolated condition like imperforate hymen, a complex abnormality like cloacal malformation, or a part of a large congenital syndrome, the mainstay of treatment is decompression of the dilated vagina and surgical correction of the outflow obstruction. Imaging-based diagnostic algorithms and new treatment techniques reported in the literature, as well as longitudinal and patient-reported outcome research, can improve the lives of children affected by this condition.

McKusick-Kaufman Syndrome: A Case Report With an Emphasis on Perinatal Diagnosis and Genetic Counseling.

McKusick-Kaufman syndrome is a rare genetic disorder that affects limb development, genital formation, and heart function. It is caused by mutations in the MKKS gene on chromosome 20. Individuals with this condition may have extra fingers or toes, fused labia or undescended testes, and, less commonly, severe heart defects. Diagnosis involves a physical examination and genetic testing, while treatment focuses on symptom management, including surgical intervention if necessary. The prognosis varies depending on the severity of associated complications. In a recent case, a 27-year-old woman with fetal hydrometrocolpos gave birth to a female neonate with extra digits on both hands and feet, fused labia, and a small vaginal opening. The neonate also had a large abdominal cystic mass, and echocardiography revealed a patent foramen ovale. Genetic testing confirmed an MKKS gene mutation, and the hydrometrocolpos required surgical management. Early diagnosis and intervention can improve outcomes for individuals with this syndrome.

Hydrometrocolpos With Polydactyly in Consanguineous Parents: A Case Report and Review of Literature.

Neonatal hydrometrocolpos (HMC) is a cystic dilatation of a neonate's vagina and uterus occurring secondary to congenital vaginal obstruction, with or without maternal estrogenic stimulation of uterine and cervical glands causing increased secretions during the prenatal and postnatal period. Diagnosis is made using ultrasonography and further confirmed by MRI. HMC in a neonate can rarely present with congenital anomalies such as polydactyly, which may indicate a variety of underlying genetic syndromes. There is a deficit in the literature as to whether the development of HMC in a neonate of consanguineous parents is an isolated finding or solely related to an underlying syndrome. We hope to help bridge this gap by reporting a case of a 12-day-old neonate presenting with hydrometrocolpos and polydactyly, born to consanguineous parents.

Fetal hydrometrocolpos: Challenges of prenatal differential diagnosis on ultrasound.

Hydrometrocolpos is a pelvic cystic mass representing the distension of the vagina and uterus due to a lower genital tract obstruction causing accumulation of utero-cervical-vaginal secretions or urine in the vagina and endometrial cavity. Prenatal diagnosis is uncommon and differential diagnosis of the underlying etiologies is quite challenging in the prenatal period. We present three cases of female fetuses with hydrometrocolpos and discuss the prenatal differential diagnoses in the light of ultrasound findings along with postnatal diagnoses and outcomes.

Reproductive health challenges of an African school girl: a case report on non-bulging imperforate hymen with haematocolpometra during Covid-19 pandemic.

Background: Several schoolgirls attain reproductive age with undiagnosed gynaecological problems which pose challenges in their livelihood. These conditions include precocious puberty, congenital reproductive tract abnormalities, and delayed sexual development. Many children with these conditions face additional challenges including physical pain, psychological trauma and delayed diagnosis. Methods: A 14-year-old girl presented with acute on chronic pelvic pain and haematocolpometra due to imperforate hymen during COVID-19 pandemic. She has not undergone cultural virginity test in her community. The hymenal membrane was unusually non-bulging despite the haematocolpometra. A partial hymenotomy with a narrow margin of excision was performed. Results: The hymenal orifice later obliterated and resulted in a repeat partial hymenectomy where a wide surgical margin of the hymen was excised. Conclusions: A wide rather than narrow partial hymenectomy prevents obliteration of the hymenal orifice after surgery for imperforate hymen. There is a need for timely interventions such as counselling and community awareness that prevent undue consequences of an imperforate hymen and its treatment including pain and possible inability to pass cultural virginity test in some African communities.

Case report: Hydrometrocolpos conditioning recurrent urinary tract infections.

We present a case of a 12.5-year-old girl who has suffered from recurrent urinary tract infections for many years but has never undergone a detailed diagnostic process. Only as a teenager did she complain of acute pain in her lower abdomen and it turned out that her genital organs had not properly developed. She had an obstructive defect in the reproductive tract. When there was a significant amount of discharge collected in the lumen of the genital tract and the organs had distended, acute pain appeared, which allowed us to make the diagnosis. In the diagnostic process, transperineal ultrasonography turned out to be extremely helpful, allowing us to establish the type and thickness of the obstruction. The patient underwent excision of transverse vaginal septum, and postoperative silicon dilators were used to prevent the recurrence of the obstruction. There was no recurrence of urinary infection or complications during the 11 months of follow-up.

A case of McKusick-Kaufman syndrome with perinatal diagnosis: Case report and literature review.

Introduction: and importance: McKusick-Kaufman syndrome (MKS) is a rarely reported autosomal recessive syndrome characterized by hydrometrocolpos (HMC), polydactyly and various gastrointestinal and renal manifestations. Case presentation: We present a case of suspected MKS in a prenatal ultrasound with dilated lateral ventricles of the brain and HMC. Clinical discussion: Main differential diagnosis includes Bardet-Beidel syndrome (BBS) which can present with HMC and polydactyly but retinal manifestations are a differentiating feature from MKS. Conclusion: Both of the disease syndromes are diagnosed clinically after birth.Keywords: McKusick Syndrome, Bardet-beidel syndrome, hydrometrocolpos, case report.

Characteristics of fetal physiological and pathological uterine effusion observed on prenatal ultrasonography: a case report.

BACKGROUND: The prenatal detection rate of fetal uterine effusion is very low, and current case reports mainly focus on pathological hydrometrocolpos. We presented two cases of fetal physiological uterine effusion with different ultrasonic characteristics and compared them with one case of hydrometrocolpos with the hope of identifying strategies to reduce misdiagnosis of fetal uterine effusion. CASE PRESENTATION: This paper reports the cases of two female fetuses with abnormal pelvic echoes in the third trimester, referred to a tertiary center to be screened for suspected pelvic teratoma and cystic mass, respectively. Ultrasound consultation revealed fetal uterine effusion. The two fetuses were delivered at our hospital after a full term. Re-examining the uterus and adnexa of the neonates revealed that the uterine effusion had subsided naturally. Another female fetus had a large cystic mass in the pelvic cavity in the third trimester, and prenatal examination indicated fetal hydrometrocolpos. The fetus was delivered at our hospital after a full term. The hydrometrocolpos existed even after birth. After consultation with a neonatal surgeon and gynecologist, the newborn was diagnosed with congenital imperforate hymen with hydrometrocolpos. Hymen puncture and open drainage led to a good prognosis. CONCLUSIONS: Prenatal ultrasonography plays an important role in diagnosing and differentiating between physiological and pathological fetal uterine effusion. It can help reduce misdiagnoses that can lead to incorrect clinical decisions.

Hydrometrocolpos in Infants: Etiologies and Clinical Presentations.

Hydrometrocolpos (HMC) is a rare condition where fluids or secretions accumulate in the vagina (hydrocolpos) or up to the uterus (hydrometrocolpos). This case series study reports three infants with different etiologies and presentations of HMC and aims to review literature for proper workup upon initial diagnosis. The first neonate antenatally presented with a huge cystic mass. HMC secondary to imperforate hymen was proved, and hymenotomy was performed at 2 days of age. The second participant presented with persistent urogenital sinus and hematopoietic chimerism, possibly due to transfusion from her twin brother via placenta anastomoses. At 2 months of corrected age, she had difficult defecating, and sonogram revealed HMC with normal appearance of uterus and ovaries. Regular follow-ups and surgical reconstruction will be conducted before puberty. The third patient had cloacal malformation and multiple congenital anomalies at birth. Vesicovaginal fistula-related HMC was detected and managed with surgical drainage in the neonate stage. The girl began menstruation with dysmenorrhea at 12 years. The image studies demonstrated hematometrocolpos secondary to left-side hemivaginal septum, uterine didelphy, and ipsilateral renal agenesis, indicating Herlyn-Werner-Wunderlich syndrome. HMC can be diagnosed easily via sonogram. Careful external genitalia examinations help to identify persistent urogenital sinus or cloacal malformation. Occasionally, the HMC may be part of syndrome manifestations or associated with sex chromosome anomalies. Clinicians may conduct surveillance of renal, cardiac, and skeletal systems as well as chromosome study for early diagnosis and management.

Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report.

This case report is of a 35-week female neonate with a cystic abdominal mass. Physical examination was notable for post-axial polydactyly, distended abdomen, and abnormal urethral opening. Differential diagnosis includes Bardet-Biedl Syndrome (BBS), an autosomal recessive ciliopathy. Genetic panel revealed she was a carrier for a BBS mutation.

Hydrometrocolpos and Post-axial Polydactyly Complicated With Acute Intestinal Obstruction and Hydroureteronephrosis.

This report presents a case of a one-month three-day-old full-term female infant with hydrometrocolpos (HMC) and post-axial polydactyly whose first clinical sign was acute intestinal obstruction and hydroureteronephrosis, caused by compression of the structures due to the increasing size of the cystic-like pelvic mass. This is the first report of HMC with post-axial polydactyly complicated with acute intestinal obstruction in Peru. It raises importance on prenatal diagnosis, management and complications of HMC. Although it is rare, clinicians should have it as an option when discussing abdominal cystic masses in neonates to perform early management and avoid complications. Continuous follow-up should be carried out on patients presenting with HMC and post-axial polydactyly to assess for Bardet-Biedl syndrome, which could affect different systems in those patients long-term.

A rare case of symptomatic hydrometrocolpos in a 5y old female.

Late presentation of symptomatic hydrometrocolpos is uncommon. We present a 5 years old continent girl with prenatally diagnosed multicystic dysplastic left kidney and late-onset of lower abdominal pain. Investigations revealed a nonfunctioning left kidney with an ectopic ureter draining into the left hemivagina, and a vaginal duplication with an obstructed and urine-filled left hemivagina. Surgical therapy included resection of the vaginal septum and laparoscopic nephroureterectomy. Not only renal agenesis but also dysplasia or multicystic kidney may part of an OHVIRA syndrome. In girls with unilateral renal dysplasia, a duplication of the internal genitalia must always be considered.

Fetal hydrometrocolpos with pre-axial mirror polydactyly as a new variant of McKusick-Kaufman syndrome.

This report describes a variant of McKusick-Kaufman syndrome presenting with a large fetal abdominal cyst of hydrometrocolpos at 37 weeks of gestation. The diagnosis was based on the ultrasound findings of a large homogeneous hypoechoic cyst (diameter of >10 cm) with incomplete septum, thickened wall, superiorly connecting to the dilated uterus, consistent with hydrometrocolpos. Additionally, pre-axial mirror polydactyly of the left foot was suspected. Postnatal examination/work-up confirmed the prenatal findings. This is the first report of prenatal diagnosis of hydrometrocolpos with complex polydactyly of mirror image pre-axial duplications containing nine toes instead of six-toe postaxial polydactyly.

Vaginal reconstruction for distal vaginal atresia without anorectal malformation: is the approach different?

INTRODUCTION: Distal vaginal atresia is a rare condition and treatment approaches are varied, usually driven by symptoms. METHODS: A retrospective review was performed to identify patients with distal vaginal atresia without anorectal malformation. Data collected included age and symptoms at presentation, type and number of operations, and associated anomalies. RESULTS: Eight patients were identified. Four presented at birth with a hydrocolpos and four presented with hematometrocolpos after 12 years of age. Number of operations per patient ranged from one to seven with an average of three. The vaginal reconstruction was achieved by perineal vaginal mobilization in four patients and abdomino-perineal approach in four patients. One patient, with a proximal vagina approximately 7 cm from the perineum, required partial vaginal replacement with colon. In addition, she had hematometrocolpos with an acute inflammation at the time of reconstruction despite menstrual suppression and drainage which may have contributed to the difficulty in mobilizing the vagina. In five patients, distal vaginal atresia was an isolated anomaly. In the other three cases, associated anomalies included: mild hydronephrosis that improved after hydrocolpos decompression (2), cardiac anomaly (2), and vertebral anomaly (1). CONCLUSION: In this series, a distended upper vagina/uterus was a common presentation and the time of reconstruction was driven by the presence of symptoms. Drainage of the hydrocolpos/hydrometrocolpos with menstrual suppression in post-pubertal patients, followed by further work-up, and planned reconstruction is a good surgical strategy.

Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.

BACKGROUND: Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations. SUBJECTS AND METHODS: This was a retrospective study involving 20 fetuses with hydro(metro)colpos at two large tertiary referral centers in Germany over an 18-year period (2000-2017). RESULTS: The median diagnosis was made at 30+4 weeks of gestation, the earliest at 20+6 weeks, the latest at 37+2 weeks. All 20 fetuses presented with the typical cystic structure behind the fetal bladder. Additional malformations included urogenital malformations, hexadactyly, and heart defects. Postnatal follow-up revealed that hydro(metro)colpos was associated with anorectal malformation in 11/20 fetuses, McKusick-Kaufman syndrome or Bardet-Biedl syndrome in 4/20 fe tuses, Mayer-Rokitansky-Küster-Hauser syndrome in 3/20 fetuses, and Herlyn-Werner-Wunderlich syndrome in 1/20. In 1 fetus pressure from an intraabdominal teratoma resulted in prenatal hydro(metro)colpos. CONCLUSION: Hydro(me tro)colpos is a rare prenatal sonographic feature. Multidisciplinary prenatal counseling should include all potential syndromes that can present with hydro(metro)colpos in the prenatal setting.

Congenital vaginal obstruction in a newborn.

A transverse vaginal septum is a horizontal wall of tissue that has formed during embryologic development and essentially creates a blockage of the vagina. It can occur at different levels of the vagina. We report a neonate who was diagnosed antenatally with an enlarged lower abdominal mass suggestive of an enlarged urinary bladder with hydronephrosis and hydroureter. Shortly after birth, she developed urinary retention and neonatal sepsis. Following multiple postnatal investigations, she was found to have a vaginal septum with hydrometrocolpos.

A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome.

Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina, which has an estimated incidence of 0.6/10,000 female births. It could be the only known malformation or part of a syndrome. PUGS is commonly shown by a pelvic mass, related to a distended bladder, hydrometrocolpos which is due to an obstruction leading to the dilation of the vagina and uterus (i.e., imperforate hymen, transverse vaginal septum or atresia, and PUGS) or both. We present a case of female patient with classical congenital adrenal hyperplasia, diagnosed on the 7th day of life, with ambiguous genitalia, untreated surgically only with hormone therapy by parental decision. The patient, at the age of 5 years and 5 months, came to our observation for a pelvic ultrasound, which revealed retrovesical neoformation with anechoic content and regular walls. We performed the ultrasound examination that showed the dilation of the cervix and the vaginal canal with anechoic finely corpuscolated content in the declining portion, compatible with hydrometrocolpos from probable persistence of the urogenital sinus. The voiding cystourethrography (VCUG) confirmed the ultrasound diagnosis, with evidence of urogenital sinus. In conclusion, ultrasound is the first diagnostic tool, but need to be completed by other technical procedures, which VCUG or magnetic resonance imaging to observe the site of fusion of the urinary and genital tract.

Fetal hydrometrocolpos and congenital imperforate hymen: Prenatal and postnatal imaging features.

Congenital imperforate hymen is probably the most common obstructive anomaly of the female reproductive tract. The accumulation of fluid in the genital tract leads to a distended uterus and vagina, causing hydrometrocolpos. Prenatal diagnosis of fetal hydrometrocolpos is uncommon, with only 22 cases reported in the literature and only a few cases of prenatal imaging of this condition available to date. The main ultrasound finding is a fetal pelvic mass posterior to the bladder and anterior to the rectum. We present the case of a 37-week female fetus with a fetal pelvic mass detected in a routine obstetric ultrasound examination, and the correlation between the prenatal and postnatal findings.

Hydrometrocolpos etiology and management: past beckons the present.

Hydrometrocolpos is a rare condition in which the uterus and the vagina are grossly distended with a retained fluid other than pus or blood. It may present during the neonatal period or later at puberty. Most cases reported earlier were stillbirths and were diagnosed only on autopsy. Antenatal diagnosis is now possible with the advent of ultrasound. An early diagnosis and speedy management is the key to survival. Many previous case reports have focused on the varied clinical presentations, multiple causes, associated syndromes and/or the radiological diagnosis of this condition. However, management options for different types of hydrometrocolpos have not yet been concisely discussed. We have reviewed the literature and tried to summarize the management options applicable to most case scenarios of hydrometrocolpos.