Herlyn-Werner-Wunderlich Syndrome Research Articles

A Rare Cause of Abdominal Pain: Herlyn-Werner- Wunderlich Syndrome

Herlyn-Werner-Wunderlich (HWW) syndrome is a congenital urogenital syndrome. Typical features are unilateral blind-ending hemivagina with uterine didelphy and ipsilateral renal agenesis. Patients usually progress asymptomatically until menarche, and they are diagnosed with radiological imaging by applying to the hospital with these conditions such as abdominal pain, abdominal bloating, primary amenorrhea along with menarche. In this case report, it is aimed to present a patient who applied to our emergency department with abdominal pain and is diagnosed with HWW syndrome. In this case, it is emphasized that emergency physicians should regard to HWW syndrome in the differential diagnosis of abdominal pain.

Herlyn-Werner-Wunderlich syndrome: Challenges in diagnosis and management.

Herlyn-Werner-Wunderlich syndrome (HWWS), also known as OHVIRA syndrome (obstructed hemivagina and ipsilateral renal anomaly) is a complex congenital malformation characterized by a triad including uterine didelphys, hemivaginal obstruction, and ipsilateral renal agenesis. In this case report, we present a case of HWWS along with the challenges in diagnosis and multi-step treatment processes. A 25-year-old woman presented to Dr. Zainoel Abidin Hospital in Banda Aceh, Indonesia with a chief complaint of lower back pain for the past six months (two months after the marriage). The patient also complained of late menstruation, followed by thick yellow vaginal discharge resembling malodorous pus occurring after menstruation. Additionally, a history of fever and pain during intercourse was reported. Vaginal examination revealed purulent fluid emerging from a pinpoint hole on the right vaginal wall. Vaginal palpation revealed a two-branched uterus, along with a palpable cystic mass on the right vaginal wall. Ultrasound examination indicated the presence of the right and left hemi-uteri, measuring 4.7x1.35 cm and 5.7x1.26 cm in size, respectively with both ovaries appearing normal. Fluid accumulation was observed in the right hemivagina, while the left kidney exhibited normal features, and the right kidney showed signs of hypoplasia. The patient was diagnosed with uterus didelphys, fluid accumulation in the hemivagina, and right kidney hypoplasia. Magnetic resonance imaging (MRI) confirmed uterus didelphys and revealed narrowing of the right hemivagina, suggestive of HWWS. Hysteroscopy was performed to resect the vaginal septum with laparoscopic guidance, along with drainage of hematocolpos, pyocolpos and placement of an intracervical mold. Despite HWWs having conservative gradual management, it was opted to perform vaginal septum resection, hematocolpos and pyocolpos drainage and placement of an intracervical mould in this case, in order to relieve symptoms and restore the reproductive and sexual functions.

Herlyn-Werner-Wunderlichov sindrom s piohematokolposom

Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare malformation syndrome of the women reproductive tract characterized by uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis. We report here a case of a 20 year-old patient presented to the emergency department with pain in the right lower quadrant. The clinical exam showed a vaginal fluctuant painful mass obliterating the right part of the vagina. Transvaginal ultrasound showed uterus didelphys, the right uterus was dilated with a dense fluid collection which corresponded to pyohematometra. It also revealed a dense vaginal collection which corresponded to pyohematocolpos. Abdominal ultrasound showed the absence of a right kidney. The laparoscopy showed uterus didelphys with a large right uterus. We performed the resection of the vaginal septum to reconstruct one vagina. The first follow-up visit revealed a healthy wound with no adhesion of the vaginal wall. Prompt and accurate diagnosis of female reproductive tract disorders, including HWWS, is necessary to prevent complications and preserve future fertility.

Clinical features of 102 patients with different types of Herlyn-Werner-Wunderlich syndrome.

Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare female genital tract malformation, and there are few large sample studies reported at home and abroad. The clinical manifestations of this syndrome are diverse, and insufficient understanding may delay the diagnosis and treatment of the patients. This study aims to analyze the clinical characteristics of different types of HWWS patients, and to improve the diagnosis and treatment of HWWS. The clinical data of patients with HWWS who were hospitalized in the Department of Obstetrics and Gynecology, Third Xiangya Hospital of Central South University from October 1, 2009 to April 5, 2022 were retrospectively analyzed. The age, medical history, physical examination, imaging examination and treatment of the patients were collected for statistical analysis. The patients were divided into an imperforate oblique vaginal septum type, a perforate oblique vaginal septum type, and an imperforate oblique vaginal septum and cervical fistula type. The clinical characteristics of different types of HWWS patients were compared. A total of 102 HWWS patients were enrolled, with age of 10-46 years old, including 37 (36.27%) patients with type I, 50 (49.02%) type II, and 15 (14.71%) type III. All patients were diagnosed after menarche, with an average age of (20.5±7.4) years. There were significant differences in the age of diagnosis and course of disease among the 3 types of HWWS patients (both P<0.05). Patients with type I had the youngest age of diagnosis [(18.0±6.0) years] and the shortest course of disease (median course of 6 months), while patients with type III had the oldest age of diagnosis [(22.9±9.8) years] and the longest course of disease (median course of 48 months). The main clinical manifestation of type I was dysmenorrhea, and the main clinical manifestation of type II and type III was abnormal vaginal bleeding. Of the 102 patients, 67 (65.69%) patients had double uterus, 33 (32.35%) had septate uterus, and 2 (1.96%) had bicornuate uterus. The vast majority of patients had renal agenesis on the oblique septum, and only 1 patient had renal dysplasia on the oblique septum. The oblique septum located on the left side in 45 (44.12%) patients and on the right side in 57 (55.88%) patients. There were no significant differences in uterine morphology, urinary system malformation, pelvic mass, and oblique septum among the 3 types of HWWS patients (all P>0.05). Six (5.88%) patients had ovarian chocolate cyst, 4 (3.92%) patients had pelvic abscess, and 5 (4.90%) patients had hydrosalpinx. All patients underwent vaginal oblique septum resection. Among them, 42 patients underwent hysteroscopic incision of the oblique vaginal septum without destroying the intact hymen because they had no sexual life history, and the remaining 60 patients underwent traditional oblique vaginal septum resection. Among the 102 patients, 89 patients were followed up for 1 month to 12 years. The symptoms of vaginal oblique septum in 89 patients such as dysmenorrhea, abnormal vaginal bleeding and vaginal discharge were improved after operation. Among the 42 patients who underwent hysteroscopic incision of the oblique vaginal septum without destroying the intact hymen, 25 patients underwent hysteroscopies again 3 months after operation, and there was no obvious scar formation at the oblique septum incision site. Different types of HWWS have different clinical manifestations, but all can be manifested as dysmenorrhea. The patient's uterine morphology can be manifested as double uterus, septate uterus, or bicornuate uterus. The possibility of HWWS should be considered if uterine malformation is combined with renal agenesis. Vaginal oblique septum resection is an effective treatment.

Herlyn-Werner-Wunderlich Syndrome: About an Uncommon Case Report

Herlyn-Werner-Wunderlich syndrome (HWWS), defined by the triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis, is a rare Mullerian duct malformation, usually diagnosed after menarche, when symptoms related to haematocolpos arise. HWW generally occurs at puberty and exhibits variable symptoms including pelvic pain shortly following menarche, dysmenorrhoea, palpable mass due to the associated haematocolpos or haematometra or haemoperitoneum due to retrograde menstruation. Ultrasonography and MRI are extremely useful in the diagnosis and classification of Müllerian duct anomalies. 3D ultrasound is more effective in the diagnosis of uterine malformation. Early detection of this relatively rare syndrome can lead to the provision of immediate treatment to preserve future fertility. We present a rare case report on Herlyn-Werner-Wunderlich syndrome from Morocco.

OHVIRA (OBSTRUCTED HEMIVAGINA WITH IPSILATERAL RENAL AGENESIS) WITH VERTEBRAL FUSION ANOMALY, SCOLIOSIS AND ABSENCE OF COCCYX: AN UNCOMMON MEDLEY!

OHVIRA(Obstructed hemi-vagina with ipsilateral renal agenesis),also known as Herlyn-WernerWunderlich syndrome(HWW) is a rare case of a complex uterine anomaly.Associationwith congenital vertebral fusion anomalies, curvature abnormality of spine and congenital absence of coccyx together in a single patient has been sparsely documented in literature. We present a case of 15 year old female with varied spectrum of radiographic, ultrasonographic and MRI ndings. MRI remains the gold standard investigation for diagnosing this rare congenital uro-genital anomaly

Anatomical variations, treatment and outcomes of Herlyn-Werner-Wunderlich syndrome: a literature review of 1673 cases.

This study aimed to perform a systematic review of patients with Herlyn-Werner-Wunderlich syndrome (HWWS) and present the prevalence of symptoms, anatomical variants, endometriosis, surgical interventions, and short- and long-term outcomes. A structured search was performed in PubMed, Scopus, Embase, and China National Knowledge Infrastructure, and studies published between 1 January, 2000 and 19 April, 2022 were included. The following data on HWWS were recorded: symptoms, anatomical variations, surgical interventions and short- and long-term outcomes. A total of 1673 patients were included in our analysis. The main symptoms were dysmenorrhea (53.8%), abnormal uterine bleeding (28.9%), and vaginal discharge (26.6%). The principal anomalies were right-obstructed hemivagina (57.3%), haematocolpos (81.7%), uterus didelphys (88.8%), and ipsilateral renal agenesis (93.1%). A majority of patients belonged to classification 1.1 (46.7%), with a blind hemivagina, and classification 2.1 (39.2%), with a small communication between two vaginas. The mainstay of treatment was vaginal septum excision (91.8%). Minimally invasive surgery (48.5%) was performed only after vaginal surgery (61.9%), and only a few patients required a second surgery (2.2%). Endometriosis was found in 9.6% of the patients. Fifty-two percent of them had ipsilateral ovarian endometriosis cysts. Pregnancy rate of these patients was 72.1%. The rate of adverse pregnancy outcomes was 22.4%. The caesarean section rate was 61.2%. Patients with HWWS presented with nonspecific symptoms and demonstrated various combinations of anomalies. The most common anatomical variants are classifications 1.1 and 2.1. Vaginal septum excision is effective in relieving symptoms and preventing complications, with hysteroscopic surgery as an option where there is concern about protecting the hymen from minor injury. The pregnancy rate for these patients after surgery was satisfactory, and the rate of adverse pregnancy outcomes after surgery was acceptable. We advise females with urological anomalies to be screened for Müllerian anomalies because of the close association between these two types of anomalies. Thus, HWWS contributes to the occurrence of endometriosis; however, more research is required to investigate the relationship between pelvic endometriosis and HWWS.

Double the trouble: A case report on uterine didelphys with unilateral cervical atresia

Genetic errors and teratogenic events during embryonic development can lead to congenital abnormalities of the female reproductive tract. Many patients are asymptomatic, while some have major abnormalities that can cause severe impairment of menstrual and reproductive functions. This case report focuses on Müllerian anomaly Class III, uterine didelphys, along with obstructed hemivagina and ipsilateral renal agenesis (the Herlyn–Werner–Wunderlich syndrome [HWWs]). The patient presented with cyclic pelvic pain due to the hematometra and hematocolpos. She initially underwent resection of the vaginal septum but had a recurrence of obstructive symptoms more than a year after vaginal surgery was performed. This prompted further evaluation with magnetic resonance imaging revealing cystic dilatation of the right uterine horn and a hypoplastic right vagina appearing to end blindly. The patient subsequently underwent hemihysterectomy. The right hemiuterus was noted to have a depression on its thickened inferior aspect, but no cervix was identified. This case is a variant of the classic HWWS, as there was cervical atresia on the right uterine corpus. A thorough preoperative evaluation and accurate intraoperative assessment of patients with Müllerian anomalies can decrease misdiagnoses, guide appropriate intervention, and decrease the risk of future reproductive complications.

Two Cases of Herlyn-Werner-Wunderlich Syndrome with Severe Dysmenorrhea, One Misdiagnosis and One Missed Diagnosis

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare variant of mullerian duct anomalies characterized by the triad of uterine didelphys, obstructed hemivagina and ipsilateral renal agenesis. We report two cases of HWW syndrome in young women with abdominal pain. This diagnosis can easily be missed if a clinician is not aware of the syndrome. In one case, the computed tomography image of obstructed hemivagina with hematocolpos was initially mistaken for a cystic tumor of adnexa by the radiologist; in the other case, correct diagnosis was missed for years despite numerous visits to different hospitals due to lack of awareness of the syndrome.

MRI presentations of Müllerian duct anomalies in association with unilateral renal agenesis

To evaluate the presentations of Müllerian duct anomalies (MDAs) associated with unilateral renal agenesis (URA) on magnetic resonance imaging (MRI). From 2014 to 2021, 92 patients with MDAs coexisting with URA who had undergone MRI were reviewed, and imaging patterns were analysed. Based on the different imaging patterns, there were 74 cases of Herlyn-Werner-Wunderlich (HWW) syndrome (80.4%), nine cases of unicornuate uterus (10.9%), and nine cases of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome (8.7%). In HWW syndrome, URA was ipsilateral to the vaginal or cervical obstruction. All the nine cases of unicornuate uterus were obstructive, and the most common subtype was unicornuate uterus with a non-communicating functioning rudimentary horn. The other two cases of unicornuate uterus with no rudimentary horn were obstructed due to cervical os obliteration, one of which was complicated with contralateral absent ovary. URA was contralateral to the unicornuate uterus in all cases. In MRKH syndrome, seven patients had bilateral rudiments and ovaries, all of which were unilaterally or bilaterally located above the pelvic brim, and URA was ipsilateral to the ectopic ovary in all cases. The other two patients had unilateral absent rudiment, ovary, and ipsilateral URA. MRI presentations of URA-associated MDAs are diverse, with HWW syndrome being the most common form, followed by different patterns of unicornuate uterus and MRKH syndrome. An ectopic or absent ovary might be associated with URA in MRKH syndrome and unicornuate uterus.

Malformasi Genital Perempuan: Kasus di RSUP Dr. Sardjito Yogyakarta Tahun 2019

BackgroundReproductive tract malformations are rare in general population but are commonly encountered in women with infertility and recurrent pregnancy loss. Their true prevalence in the general population is not absolutely known mainly owing to methodological bias. Common uterine anomalies are important owing to their impact on fertility, and certain Mullerian malformations are particularly important because they cause serious clinical symptoms and affect woman’s quality of life. Identification of symptoms and timely diagnosis are an important key to the management of these defects. Although MRI being gold standard in delineating uterine anatomy, recent advances in imaging technology, specifically 3-dimensional ultrasound, achieve accurate diagnosis. Surgical management depend on the type of anomaly and its complexity and also involves multiple specialties; thus, patients should be referred to centres with experience in the treatment of complex genital malformationsObjectiveDetermined the description of cases of female genital malformation at Dr. Sardjito Hospital in 2019.MethodThis is descriptive study. The subject in this study were all new patient with female genital malformation at Obgyn Polyclinic Dr. Sardjito Hospital January-December 2019. Obtained 30 cases of female genital malformation.ResultThere is 30 cases of genital malformation in 2019. They were 4-44 years with mode at group 16-20 years. They consist of vaginal and cervicovaginal agenesis 14 cases, Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrom 6 cases, hematometra of hemiuterine 4 cases, Herlyn-Werner-Wunderlich (HWW) syndrome 3 cases, imperforate hymen, didelphys uterus and genital ambiguous each 1 case. Five cases of cervicovaginal agenesis have been done sigmoid vaginoplasty, all of them have good sexual function after procedure. One case MRKH syndrome has been done sigmoid vaginoplasty with good sexual function after that. Two cases HWW syndrome have been surgical treatment that are vaginal septectomy and vaginal septectomy with laparascopic cystectomy.ConclusionThe correct knowledge of embryology of the genitourinary is essential for the understanding, study, diagnosis and management of genital malformations, especially complex ones and those that lead to reproductive problems. Surgical techniques for correcting genital malformations depend on the type of anomaly and complexity.

Preoperative MRI presentations of Herlyn-Werner-Wunderlich syndrome.

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare complex female urogenital anomaly, with diverse anatomical presentations. Due to obstruction, most patients with HWW syndrome need to be addressed surgically. The treatment strategy should be tailored to the different anatomical variants of each patient. Therefore, a detailed and comprehensive preoperative evaluation is needed. In this review, we describe the embryology and clinical manifestations of HWW syndrome and discuss and illustrate its diverse preoperative magnetic resonance imaging presentations to guide clinical treatment.

Herlyn-Werner-Wunderlich syndrome with double hematocolpos in one side hemivagina

Background: Herlyn-Werner-Wunderlich syndrome (HWWS) is an extremely rare Mullerian anomaly consisting of uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis. Although few HWWS cases had been reported in the gynecological literature, most of the reported cases were combined with single hematocolpos. Case: We report here on a case of HWWS with double hematocolpos on one side of a hemivagina combined with ipsilateral renal agenesis. This is the first report of HWWS with double hematocolpos on one side of a hemivagina that was successfully treated with the resection of the vaginal septum. Conclusion: It is important to understand the pathogenesis and clinical features of these anomalies for diagnosis.

An incidental presentation of Herlyn–Werner-Wunderlich syndrome with secondary infertility: A case report

Rationale: Herlyn-Werner-Wunderlich syndrome, also known as obstructed hemi-vagina with ipsilateral renal agenesis (OHVIRA) syndrome, is a rare congenital anomaly of the Müllerian and Wolffian ducts. It is often asymptomatic until puberty and is usually misdiagnosed as infertility.Patient concerns: A 39-year-old woman desirous of pregnancy was referred to our radiodiagnosis unit for imaging evaluation on account of secondary infertility.Diagnosis: Incidental discovery of uterine bicornis bicollis and blind-ending hemivagina was noted at hysterosalpingography.Interventions: This necessitated the search for other genitourinary tract anomalies, and ipsilateral renal agenesis was also discovered.Outcomes: A diagnosis of Herlyn-Werner-Wunderlich syndrome was made.Lessons: Magnetic resonance imaging (MRI) is considered the gold standard imaging modality for the assessment of uterine malformations. However, in resource-poor centers where MRI is unavailable, a heightened clinical suspicion with the combination of available imaging modalities is important and reliable in making an accurate diagnosis, hence, successful management.

Incidental diagnosis of Herlyn-Werner-Wunderlich Syndrome in a nulliparous woman: a case report in Bhutan

Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare congenital syndrome with features of uterus didelphys, ipsilateral absent kidney and obstructed hemivagina. Ultrasound findings of absent kidney or abnormalities in the kidney should alert the clinicians about the syndrome. Complications like endometriosis, infertility and pelvic inflammation occurs with late diagnosis.A 42-yearold nulliparious married woman who presented with right sided abdominal pain to the National Referral Hospital was diagnosed to have HWWS. The diagnosis was supported by ultrasound, CT and MRI findings. Patient was treated for endometriosis and had symptomatic improvement. The diagnosis of the syndrome is challenging as it is rare but clinicians should suspect the syndrome in women who present with infertility. Ultrasound scan is the basic investigation to screen the syndrome which is available in most hospitals.

Surgical therapy for herlyn-werner-wunderlich (HWW) syndrome cases

Introduction: One of the rare forms of Mullerian congenital ducts is Herlyn-Werner-Wunderlich (HWW) syndrome. HWW syndrome is usually found at puberty with nonspecific symptoms. Pelvic pain can be found both acute and chronic, dysmenorrhoea, as well as hematometra and hematocolpos. Early detection and treatment results in a good prognosis with fertility preservation. Case presentation: Two cases of Herlyn-Werner-Wunderlich (HWW) syndrome surgically performed were reported at Dr. Sardjito Yogyakarta Indonesia Central General Hospital in 2017-2018. Both cases are still children and at the age of puberty. The chief complaint in both cases it was reported to have the same main complaint, abdominal pain, with the condition having never experienced menstruation yet. On further examination it is known that pain is caused due to hematometra and hematosalping that occur in both cases. The first case with hematometra in the right hemiuterus and right hematosalpinx, while second case with hematometra in the uterus didelphys and bilateral hematosalpinx. One case with a normal vagina, and the other case of vaginal agenesis. There was previous history of surgery in both of cases. There are abnormalities in the urinary tract that occur together with these genital abnormalities. Surgical therapy is carried out with the main goal being to drain menstrual blood from hematometra and hematosalpinx. In first case which has a vagina within the normal range (9 cm long) and the inferior area of ​​the right hemiuterus which is bulging toward the vagina, an area can be identified for the drainage incision to drain the entire hematometra and hematosalpinx. In the second case with vaginal agenesis, neovagina which is made by sigmoid colon vaginoplasty surgery can be a way of menstrual blood flow for a lifetime. Conclusion: Clinical manifestations of Herlyn-Werner-Wunderlich (HWW) syndrome cases can be classified into 2 groups, complete and incomplete. Surgical treatment is based on the condition of the uterus and vagina. In the condition of cervical agenesis but with a normal vagina, surgery can be done by making an incision in the drainage of the uterine cervical tissue. If vaginal agenesis is obtained, vaginoplasty surgery can be performed, and one of the options is sigmoid colon vaginoplasty.

OBSTRUCTED HEMIVAGINA AND IPSILATERAL RENAL ANOMALY SYNDROME: A NONCLASSICAL PRESENTATION WITH AN INTERCERVICAL COMMUNICATION

To describe a nonclassical presentation and infertility management of Obstructed Hemivagina with Ipsilateral Renal Agenesis Syndrome (OHVIRA), also known as Herlyn-Werner-Wunderlich Syndrome (HWWS). This is a case report of a 31-year-old female with OHVIRA syndrome who presented to a community-based medical center and fertility office. A 31-year-old female presented to her obstetric provider with a missed abortion (MAB) and decision was made for surgical management. Intraoperatively, a uterine didelphys was incidentally found due to an inability to evacuate the correct cavity during suction dilation and curettage. Additionally, the right cervix was dilated three centimeters, likely due to chronic hematocolpos and hematometria. MRI imaging suggested OHVIRA syndrome with a patent cervical connection at the level of the internal cervical os. Subsequently, she underwent complete vaginal septum excision and marsupialization. A prophylactic robotic-assisted transabdominal cerclage was then placed for concern of an incompetent cervix from chronic obstruction and intercervical communication. Finally, in vitro fertilization was undertaken, leading to a successful pregnancy outcome. OHVIRA syndrome classically presents in adolescence with nonspecific complaints of dysmenorrhea or pelvic pain. We report a nonclassical presentation of OHVIRA syndrome and illustrate a stepwise management strategy for women with this heterogenic Mullerian anomaly to achieve and maintain a pregnancy to term.

Gynatresia in Herlyn-Werner-Wunderlich Syndrome: A Case Report

Background: Female genital malformations are a consequence of abnormalities in the differentiation of the Müllerian ducts at different phases during embryogenesis, resulting in a variety of clinical outcomes. HerlynWerner-Wunderlich (HWW) syndrome is a rare congenital anomaly of the female urogenital tract involving the paramesonephric ducts (Müllerian ducts). The syndrome is characterized by the triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. Case: This paper describes the case of a 14-year-old girl presenting with pelvic pain, abdominal swelling and the triad that is characteristic of HWW syndrome. Diagnosis was based on the patient’s clinical history and imaging findings. The patient underwent surgery involving complete drainage of a hematocolpos retained in the obstructed vaginal cavity and resection of the vaginal septum. The procedure was successful in providing symptomatic relief. Twelve months following surgery, the patient’s menstrual cycles were regular, with no dysmenorrhea. Discussion: Greater understanding of this syndrome is crucial in ensuring that diagnosis is reached at an early stage, thus preventing complications such as retrograde menstruation, endometriosis, infections, adhesions, infertility, and acute or chronic pelvic pain.

СИНДРОМ ХЕРЛИНА–ВЕРНЕРА–ВУНДЕРЛИХА: КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ ПАЦИЕНТКИ 17 ЛЕТ

Herlyn–Werner–Wunderlich syndrome (HWWS) is a rare syndrome in clinical practice in which there is a combination of complete uterus didelphys and OHVIRA syndrome (obstructed hemivagina and ipsilateral renal agenesis). HWWS refers to associative defects of the reproductive and urinary systems and occurs due to anomalies in the development of the Müllerian ducts. The review part of the article presents questions of its epidemiology, and provides historical information. The clinical picture, methods of examination and treatment are considered. Particular attention is paid to the difficulty of diagnosing HWWS and the need for its early diagnosis in order to preserve the reproductive health of girls. A clinical case of a 17-year-old patient with HWWS diagnosed during urgent laparoscopy, the complication of which was hematopiocolpos, is presented. The patient was referred to a level 3 hospital for specialized medical care, where she was operated on.

Renal agenesis-related genes are associated with Herlyn-Werner-Wunderlich syndrome

To explore the genetic causes of Herlyn-Werner-Wunderlich syndrome (HWWS) using whole-exome sequencing. Retrospective genetic study. Academic medical center. Twelve patients with HWWS. Whole-exome sequencing was performed for each patient. Sanger sequencing was used to confirm the potential causative genetic variants. In silico analysis and American College of Medical Genetics and Genomics guidelines were used to classify the pathogenicity of each variant. Rare sequence variants associated with müllerian duct development and renal agenesis were identified and included in subsequent analyses. A total of 11 variants were identified in 10 of 12 patients (83.3%) and were considered to constitute a molecular genetic diagnosis of HWWS. These 11 variants were related to 9 genes: CHD1L, TRIM32, TGFBR3, WNT4, RET, FRAS1, FAT1, FOXF1, and PCSK5. All variants were heterozygous and confirmed by Sanger sequencing. The changes included one frameshift variant, one splice-site variant, and eight missense variants. All of the identified variants were absent or rare in Genome Aggregation Database East Asian populations. One of the 11 variants (9.1%) was classified as a pathogenic variant according to the American College of Medical Genetics and Genomics guidelines, and 8 of the 11 variants (72.7%) were classified as variants of uncertain significance. To our knowledge, this is the first report of the genetic causes of HWWS. Renal agenesis-related genes, such as CHD1L, TRIM32, RET, and WNT4, may be associated with HWWS. Identification of these variants can not only help us understand the etiology of HWWS and the relationship between reproductive tract development and urinary system development, but additionally improve the level of genetic counseling for HWWS.