Herlyn-Werner-Wunderlinch: An unusual presentation in a patient with Prader-Willi syndrome.

Herlyn-Werner-Wunderlich syndrome is an uncommon urogenital anomaly defined by uterus didelphys, obstructed hemi-vagina and unilateral renal anomalies. The most common clinical presentation is dysmenorrhoea following menarche, but it can also present as pain and an abdominal mass. Prader-Willi syndrome is a rare neuroendocrine genetic syndrome. Hypothalamic dysfunction is common and pituitary hormone deficiencies including hypogonadism are prevalent. We report the case of a 33-year-old female with Prader-Willi syndrome who was referred to the Gynaecology clinic due to vaginal bleeding and abdominal pain. Abdominal ultrasound revealed a haematometra and haematocolpos and computed tomography showed a uterus malformation and a right uterine cavity occupation (hematometra) as well as right kidney agenesis. Vaginoscopy and hysteroscopy were performed under general anaesthesia, finding a right bulging vaginal septum and a normal left cervix and hemiuterus. Septotomy was performed with complete haematometrocolpos drainage. The association of the two syndromes remains unclear.

A gynaecological examination could have prevented a long and painful diagnostic work-up of a patient with hymen imperforatus.

Haematocolpos, caused by imperforate hymen, is a rare condition where menstrual blood accumulates in the vagina. Adolescent girls presenting with amenorrhoea, cyclical abdominal pain, and pelvis mass should be evaluated for this condition. Diagnosis requires a gynaecological examination. However, myths surrounding the hymen may impede proper medical care. Addressing these misconceptions is essential for promoting gynaecological care and ensuring timely evaluation and treatment. This case report emphasises the significance of effective communication in preventing misdiagnoses and care delays.

OHVIRA-syndrome (Obstructed hemivagina with ipsilateral renal anomaly) as differential diagnosis of acute lower abdominal pain.

INTRODUCTION: OHVIRA-syndrome (obstructed hemivagina, ipsilateral renal agenesis/anomaly) is a rare Mullerian duct anomaly that can lead to complications in pubescent children. CASE REPORT: We report a case of a 13-year-old patient with acute right-sided lower quadrant abdominal pain who was referred for exclusion of appendicitis. As a result of the examination (transvaginal ultrasound scan and gynecological examination), a female genital tract anomaly was suspected in the form of obstructed hemivagina with hematocolpos and hematometra. The MRI scan showed hematocolpos and hematometra on the right side, uterus didelphys accompanied by right-sided renal agenesis, consistent with OHVIRA-syndrome. Excision of the vaginal septum was performed and the accumulated old menstrual blood, as represented by hematocolpos and hematometra, was evacuated. Postoperative recovery was uneventful. CONCLUSION: The early surgical management of this rare Mullerian duct anomaly is important in order to prevent longterm complications. This malformation should be considered in the differential diagnosis of acute lower abdominal pain in pubescent girls. KEY WORDS: Abdominal Pain, Genital Anomaly, Obstructed Hemivagina, Renal Anomaly.

Management of Hematometra and Hematocolpos in Obstructive Mullerian Anomalies by Image-Guided Drainage with Interventional Radiology: A Multi-Institutional Case Series.

STUDY OBJECTIVE: To describe cases of image-guided drainage of symptomatic hematometrocolpos from obstructive Müllerian anomalies as a temporizing measure to manage acute pain symptoms and delay definitive management of the obstructive Müllerian anomalies that require complex reconstruction METHODS: Institutional Review Board exemption from all included institutions was obtained. A retrospective case series from 3 academic children's hospitals of 8 females under the age of 21 with symptomatic hematometrocolpos due to obstructive Müllerian anomalies drained by image-guided percutaneous transabdominal vaginal or uterine drainage with interventional radiology was reviewed and described. RESULTS: Eight pubertal patients with obstructive Müllerian anomalies (6 patients with distal vaginal agenesis, 1 patient with an obstructed uterine horn, and 1 patient with a high obstructed hemi-vagina) and symptomatic hematometrocolpos are reported. All patients with distal vaginal agenesis had greater than 3 cm lower vaginal agenesis, which would usually require complex vaginoplasty and use of postoperative stents. Given their immaturity and inability to use stents or dilators postoperatively or medical complexity, they subsequently underwent ultrasound-guided drainage of hematometrocolpos with interventional radiology to relieve pain symptoms, followed by menstrual suppression. The patients with obstructed uterine horns had complex medical and surgical histories requiring perioperative planning; they also underwent ultrasound-guided drainage of hematometra as a temporizing measure to manage acute symptoms. CONCLUSION: Patients presenting with symptomatic hematometrocolpos due to obstructive Müllerian anomalies might not be psychologically mature enough to undergo definitive complex reconstruction, which requires vaginal stent or dilator use postoperatively to prevent stenosis and other complications. Image-guided percutaneous drainage of symptomatic hematometrocolpos serves as a temporizing measure by offering pain relief until patients are ready to undergo surgical management and/or to allow time for complex surgical planning.

Distal vaginal agenesis and differential diagnosis of other causes of hematocolpos.

Distal vaginal agenesis is an obstructive congenital malformation of the female reproductive tract. The distal part of the vagina is replaced by fibrous tissue and the outflow of the menstrual blood and secretion of the cervical glands is disabled. This congenital anomaly most often manifests during expected menarche by primary amenorrhea and cyclic lower abdominal pain caused by cryptomenorrhea with gradually increasing hematocolpos and hematometra. The dia-gnosis is based on gynecological examination and the suspected anomaly is confirmed by ultrasound examination and magnetic resonance imaging. Therapy of distal vaginal agenesis is exclusively surgical. A pull-through vaginoplasty is the method of choice for distal vaginal agenesis not exceeding 3cm. With a greater extent of agenesis and the risk of postoperative vaginal stenosis, replacement of the missing part of the vagina with other tissues or modified balloon vaginoplasty can be used. The aim of the treatment is to enable the evacuation of the menstrual blood, ensure quality sexual intercourse and the possibility of reproduction.

Young adolescent with trisomy 13.

A young adolescent girl with trisomy 13 was admitted twice to the paediatric department: the first time because of haematocolpos due to uterus didelphys and unilateral transverse vaginal septum, and the second time because of heart failure due to ruptured sinus of Valsalva aneurysm. As a consequence of the historical early high mortality rate in trisomy 13, we are not aware of known complications in older patients. With better survival nowadays through childhood, we advise structural ultrasonographic cardiac and female genital screening in trisomy 13 patients reaching adolescent age.

Obstructed Hemivagina and Ipsilateral Renal Agenesis Syndrome: A Case Report.

Obstructed hemivagina and ipsilateral renal anomaly syndrome also known as Herlyn-Werner-Wunderlich syndrome is a rare congenital urogenital anomaly characterised by Mullerian duct anomalies associated with mesonephric duct anomalies. A 10-year old female presented with acute lower abdominal pain, urinary retention and scanty menstrual flow during her first menstruation. Ultrasonography and contrast computed tomography showed uterine didelphys, hematocolpos, obstructed hemivagina and left renal agenesis. Hemivaginal septal resection and drainage of the hematocolpos were done and operative findings also confirmed the final diagnosis. She was discharged and followed up after 2 weeks and her symptoms had resolved completely. Being a rare entity many clinicians and radiologists are unaware of this disease so this may lead to misdiagnosis whenever these cases present. So strong suspicion and knowledge of this disease entity are essential for a precise diagnosis. Keywords: case reports; hematocolpos; mullerian ducts; unilateral renal agenesis.

Hymenal atresia - a rare congenital anomaly with the risk of late diagnosis.

OBJECTIVE: Comprehensive analysis of causes, clinical signs, dia-gnostic process, differential dia-gnosis and therapy of hymenal atresia. METHODS: Literature search using the Web of Science, Google Scholar and PubMed databases with keywords and analysis of articles published in high impact and reviewed journals. RESULTS: Hymenal atresia is a congenital malformation of a womans genitals, which is manifested by complete obstruction of the vaginal introitus by a closed hymen. It should be dia-gnosed in the neonatal period, but clinically it usually manifests itself only during puberty as a result of menstrual blood retention (cryptomenorrhea) with the cyclic abdominal pain at monthly intervals. The therapy is based on optimally timed surgical creation of communication in the hymen (hymenotomy, hymenectomy) enabling free evacuation of menstrual contents. The aim of this simple treatment method is immediate subjective relief from pain and a permanent solution to this congenital anomaly. CONCLUSION: Knowledge of all types of congenital malformations of the female genitalia is a basic condition for an early and effective dia-gnostic process in adolescent girls with abdominal pain. The girl who has not yet menstruated and has cyclic lower abdominal pain and a tumor behind the pubic symphysis should be examined by a specialist in pediatric and adolescent gynecology who will confirm hymenal atresia according to a bluish and closed hymen, and suggest prompt and effective therapy.

Conservative Treatment of Didelphyc Uterus with Obstructed Hemivagina and Ipsilateral Renal Agenesis.

STUDY OBJECTIVE: To show a conservative surgical treatment for a female adolescent affected by Wunderlich syndrome with didelphys uterus and obstructed hemivagina. DESIGN: Stepwise demonstration of the technique with narrated video footage. SETTING: In the context of obstructive congenital müllerian anomalies, involving a stagnation of menstrual blood, the Wunderlich syndrome is the most common and constantly characterized by the duplicity of the uterine body, by the presence of an imperforate hemivagina, and by renal agenesis ipsilateral to the obstructed hemivagina. The imperforate hemivagina leads to dysmenorrhea and abdominal pain, owing to the hematocolpos and the hematometra, which arose immediately after the menarche. This is the case of a 14-year-old female adolescent affected by Wunderlich syndrome referred to the San Raffaele Hospital adolescent center (Milan, Italy) for dysmenorrhea and abdominal pain. At vaginal exploration, a right imperforated hemivagina and hematocolpos were highlighted. A diagnostic magnetic resonance imaging (MRI) found the duplicity of the uterine body, the hematometra, and the right renal agenesis. INTERVENTIONS: A combination of explorative laparoscopy and surgical vaginal time leads to the excision of the vaginal septum that allows the drainage of the hematocolpos and of the hematometra. Three surgical steps are described: 1. First laparoscopic step: exploration of the abdominal cavity with the detection of a double uterine body, an enlarged hemiuterus, and an enlarged hemivagina caused by the hematometra and the hematocolpos. Careful evaluation of adnexa for eventual presence of hematosalpinx. 2. Vaginal step divided into the following: (A) puncture of the vaginal tumescence (corresponding to the imperforated hemivagina) with a 19-gauge needle mounted on a syringe. Aspiration results in thick creamy black material (old menstrual blood). (B) In correspondence with the needle puncture, a full-thickness incision of the vaginal wall widely opening the second uterine cervix and (C) stabilization of the opening by the marsupialization of the edge of the obstructed hemivagina were performed. 3. Second laparoscopic step: having emptied the hematocolpos of the left hemiuterus, the didelphys uterus and the disappearance of the hematocolpos can be clearly seen. CONCLUSION: Here, we demonstrate a conservative surgical approach for the treatment of Wunderlich syndrome. This rare malformation is characterized by an extreme variability of the anatomic presentation, and the precise identification of the variety together with the early diagnosis is of fundamental importance for the surgical correction.

Abdominal swelling and obstructive uropathy due to hematometrocolpos secondary to imperforate hymen: a case report.

Imperforate hymen is an uncommon congenital anomaly of the female genital tract and can lead to the collection of blood in the vagina and the uterus. Most patients are not diagnosed until menarche when they present with symptoms such as cyclic abdominal and pelvic pain, constipation, tenesmus, back pain, and difficulties with urination in association with lack of menses. We discuss the case of an adolescent female who presented with the complaint of an increasing abdominal swelling along with the urgency and a sense of incomplete urination. She had not attained menarche. A diagnosis of hematometrocolpos was made based on computed tomography findings. Subsequent perineal examination revealed a bulging imperforate hymen. Hymenotomy was performed with complete resolution of the symptoms. This case highlights the importance of keeping a high index of suspicion for this condition in patients presenting with these symptoms and the importance of appropriate gynecologic examination.

Aqueous vaginal contrast and scheduled hematocolpos with magnetic resonance imaging to delineate complex müllerian anomalies.

OBJECTIVE: To demonstrate the advantage of using aqueous vaginal contrast and scheduled hematocolpos with magnetic resonance imaging (MRI) to improve the delineation of gynecologic anatomy and to recommend that this modality be considered in patients with complex müllerian anomalies. DESIGN: Video demonstration of MRI adjuncts to improve visualization of gynecologic anatomy. SETTING: Academic Hospital. PATIENT(S): A patient with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) who presented for definitive surgical management. INTERVENTION(S): OHVIRA is a unilateral obstructed müllerian anomaly that presents typically after menarche with progressively worsening dysmenorrhea caused by progressive distension of the obstructed hemivagina and uterine horn. The definitive treatment for this anomaly is resection of the unilateral obstruction. When the obstructed hemivagina is within close proximity to the patent hemivagina, vaginal septum resection should be performed to relieve the obstruction successfully. However, when the obstructed hemivagina and uterine horn are not adjacent to the patent hemivagina, a simple septum resection is not feasible and there is a high rate of restenosis if anastomosis is attempted. In this case, laparoscopic removal of the obstructed uterine horn, fallopian tube, cervix, and vagina should be considered as an alternative approach to resolving the obstruction. A surgical approach can be recommended only once the surgeon has a clear understanding of the patient's pelvic anatomy and the magnitude of the obstruction. In the presented case, a 17-year-old patient with OHVIRA presented for definitive surgical management. While on hormonal suppression, a pelvic MRI was performed that identified a uterus didelphys with a left hemiuterus and cervix communicating with a patent vagina. The right hemiuterus and cervix were measured 2.5 cm from the patent vagina. However, because of hormonal suppression, the vaginal cavity was decompressed, making it very difficult to discern the relationship between the two uteri and vaginas. To better determine whether vaginal septum resection to relieve the obstruction was feasible, norethindrone was discontinued to allow menstrual blood to fill the obstructed hemivagina followed by a subsequent pelvic MRI with aqueous vaginal contrast to fill the patent vagina with contrast gel to improve the visualization of the decompressed vaginal cavities. MAIN OUTCOME MEASURE(S): Advantage of aqueous vaginal contrast and scheduled hematocolpos with MRI to image pelvic anatomy in a patient with a complex müllerian anomaly to guide surgical decision-making. RESULT(S): The addition of vaginal aqueous contrast clearly delineated the course and caliber of the patent vagina and its relationship to the obstructed hemivagina, now filled with blood. The inferior margin was in closer proximity to the patent vagina, but with only a very narrow segment (<1 cm) adjacent to the patent vagina and the obstructed cervix was displaced superiorly, now measuring 3.5 cm above the patent vagina. Surgical management options were discussed with the patient, and given the superior location of the obstructed uterus and cervix with only a narrow border of the vagina in continuity with the patent vagina, the risk of postoperative stenosis after vaginal septum resection was determined to be too high. The decision was made to proceed with a laparoscopic resection of the obstructed right side, and the patient underwent laparoscopic resection of the right hemiuterus, fallopian tube, cervix, and vagina. Intraoperatively, a survey of the pelvis again confirmed that the two vaginas were too far to reconnect safely without a high risk of stenosis. The patient recovered without complications postoperatively and her menses resumed without any pain. CONCLUSION(S): We highlight the use of two techniques to optimize MRI imaging of pelvic anatomy in a patient with a complex müllerian anomaly. First, the use of aqueous vaginal contrast with MRI is advantageous to clearly delineate the course and caliber of the patent vagina in patients with complex gynecologic anatomy. Second, cessation of hormonal suppression to allow menstruation to cause hematocolpos helped delineate the relationship between the obstructed vagina and patent vagina. In the presented case, these MRI adjuncts provided necessary detail that could not be appreciated with standard MRI to confirm that vaginal septum resection to preserve the right uterus would be too high a risk for postoperative stenosis in this patient. Aqueous vaginal contrast and scheduled hematocolpos should be considered as adjuncts to MRI when standard imaging modalities are unable to clearly describe the relationship between pelvic structures in cases of complex müllerian anomalies to help guide treatment recommendations.

Recurrent formation of haematocolpos in a young girl with multiple congenital anomalies of the urogenital tract.

An 11-year-old girl, a known case of left crossed fused renal ectopia and sacral hypoplasia presented to the gynaecological OPD in Karachi, Pakistan, in February 2019 with complaints of abdominal pain. On examination, she was found to have a septum covering her vaginal orifice. She was subsequently diagnosed with haematocolpos secondary to imperforate hymen. Incision and drainage was done. However, despite surgical management, she continued to have recurrent formation of haematocolpos for the next two months secondary to multiple complete and partial transverse vaginal septa and post-operative formation of adhesions. Definitive management was done with ultrasound guided needle puncture and drainage, followed by post-operative tampon use to maintain patency.

A Novel Technique for the Reconstructive Formation of an Annular Hymen in Cases of Postpubertal Imperforate Hymen.

OBJECTIVES: Imperforate hymen (IH) is a common genital tract anomaly in women which usually presents after puberty. However, surgical treatment is often considered controversial in religious or conservative communities for sociocultural reasons. This study therefore aimed to assess the efficacy of a novel reconstructive technique involving the preservation of the annular hymen. METHODS: This prospective interventional study was performed between July 2013 and October 2019 at the minimally invasive surgery unit of a tertiary university hospital in Egypt. A total of 36 women presenting with primary amenorrhoea and haematocolpus were diagnosed with postpubertal IH. A circular hymenotomy was performed on each patient using a 10 mm laparoscopy trocar tip and sleeve to form a new annular hymen under general anaesthesia while preserving the annular hymen. The primary outcome measure was the persistence of hymenal patency and integrity at follow-up. The secondary outcome measure included post-operative patient satisfaction and pain relief. RESULTS: The reported technique was feasible in all cases without intraoperative complications. Patency of the reconstructed annular hymen was confirmed at follow-up in all cases; moreover, no intraoperative complications were reported. There was a significant post-operative improvement in pain scores (P <0.001). Both the patients and their parents/guardians reported a high level of satisfaction with the technique. CONCLUSION: This novel technique for the correction of IH involving the reconstruction of an annular hymen was found to be a safe, minimally invasive and effective procedure. This technique should be considered a feasible alternative to a conventional hymenotomy as it allows for the resumption of normal hymenal anatomy without overtreatment.

Preventing the O in OHVIRA (Obstructed Hemivagina Ipsilateral Renal Agenesis): Early Diagnosis and Management of Asymptomatic Herlyn-Werner-Wunderlich Syndrome.

INTRODUCTION: Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare variant of Mullerian ductal anomaly associated with ipsilateral renal agenesis. Most patients are diagnosed after menarche with complications of uterovaginal obstruction, genitourinary infection and pelvic adhesions. Patients often undergo additional operations for misdiagnosis or treatment of complications. Our institution manages several HWWS patients diagnosed before symptoms by screening for antenatally-diagnosed renal agenesis. This study aims to improve the presymptomatic management of HWWS patients. METHODS: We carried out retrospective case review of patients diagnosed with HWWS from 2010 to 2017 on patient demographics, symptoms, clinical course and operative management and summarize the sparse literature published to date. RESULTS: There were 8 patients with HWWS but only 2 symptomatic patients presented acutely with hematocolpos requiring urgent vaginal surgery. The other six patients had early diagnosis through postnatal ultrasound screening. No patient required further operation for diagnosis or complications related to obstructed hemivagina. CONCLUSION: Our case series and literature review show that the majority of prepubertal patients with HWWS do not require early gynecological surgery. We recommend that female babies with renal agenesis should be screened for HWWS syndrome with ultrasound. Early diagnosis and presymptomatic elective surgery may prevent urogynecological complications that cause fertility and renal impairment. STUDY DESIGN: Case series, level IV evidence.

Imperforate Hymen Causing Hematocolpos and Urinary Retention.

BACKGROUND: Acute urinary retention is rare in the pediatric population and is typically caused by an obstructing entity. It may result from hematocolpos caused by imperforate hymen. Imperforate hymen is rare, with an associated incidence of 1 in 2000 people. Nonetheless, in a pediatric age female who presents with urinary retention and who has a history of primary amenorrhea or a history of cyclical pelvic pain an examination of the external genitalia should be performed to rule out this condition. CASE REPORT: A 12-year-old girl presented to the emergency department with urinary retention and was discharged with a diagnosis of urinary tract infection. She returned the following day to the emergency department with worsening abdominal pain. A computed tomography scan revealed a fluid-filled vagina measuring 12.5 cm. Her bladder measured 15.4 cm. The patient was taken to the operating room for further evaluation by the consulting gynecologist. At the time of surgery, 1000 mL of urine were evacuated after catheterization. Three hundred milliliters of chocolate-colored fluid, consistent with menstrual blood, were evacuated at time of hymenotomy. Hymenotomy was performed with a cruciate incision. No complications were encountered. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: To date, there have been >40 reported cases of imperforate hymen causing hematocolpos and subsequent urinary retention. However, given the rarity of imperforate hymen, hematocolpos leading to acute urinary retention can still be missed. Untreated urinary retention can lead to a compromise in bladder function and subsequent kidney damage.

Resolution of Hematocolpos in Adolescents Affected with Graft vs Host Disease.

BACKGROUND: Bone marrow transplantation is a lifesaving procedure for a range of serious benign or malignant hematological conditions. A proportion of patients, however, will develop graft vs host disease (GVHD), acute or chronic, with serious long-term sequalae. CASES: We present 2 cases of hematocolpos that developed in adolescence because of vaginal synechiae due to GVHD. The condition was initially asymptomatic, resolved spontaneously at first and recurred. In 1 girl blunt lysis of the adhesions was performed with the patient under general anesthesia, followed thereafter by local hydrocortisone and estriol treatment. SUMMARY AND CONCLUSION: Genital symptoms might not be readily reported by adolescents after bone marrow transplantation. Physicians should be aware of possible late effects of GVHD on genitalia, inquire about symptoms, and be acquainted with addressing complications, such as vaginal obstruction.

Novel management of vaginal chronic graft-versus-host disease causing haematometra and haematocolpos.

Genital chronic graft-versus-host disease (GVHD) in women posthaematopoietic cell transplantation may cause vaginal mucosal sclerosis. Human papillomavirus (HPV) reactivation, also common post-transplantation, limits local immunosuppressive, but not oestrogen treatment. A 36-year-old nulliparous woman developed coincidental genital chronic GVHD and HPV 22 months after transplant for aplastic anaemia. Topical immunosuppression for GVHD led to an eruption of warts successfully treated with laser surgery and cone biopsy. She maintained normal ovarian function and used extended cycle combined hormonal contraception. A vaginal oestrogen ring used continuously limited most scarring for 8 years. Progressive apical vaginal scarring obstructed menstrual flow leading to haematocolpos and haematometra. Normal anatomy was restored with a cruciate incision in the cervicovaginal scar performed during menses. When HPV disease limits use of topical immunosuppression in women with vaginal GVHD, the local scar-reducing effect of a vaginal oestrogen ring is limited, and surgery may be needed and can be successful in treating haematocolpos.This study was registered in ClinicalTrials.gov with trial registration number of NCT00003838.