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INTRODUCTION: Herlyn-Werner-Wunderlich syndrome , a rare Müllerian ducts congenital disease, is characterized by a diphtheritic uterus, blind hemivagina, and ipsilateral renal agenesis. Diagnosis is at young age by ultrasound and magnetic resonance imaging, and the prognosis is good. Usually, complications evolve endometriosis and secondary pelvic inflammation. CASE REPORT: A 40-year-old female patient, Brazilian, white, primigravida, diagnosed at 30 years with a didelphic uterus on ultrasound, and 4 years later, with a left ovarian endometrioma, multiple ovarian cysts, and left renal agenesis on magnetic resonance imaging. Subsequently, due to dyspareunia and a feeling of swelling, the patient underwent transvaginal ultrasound with bowel preparation, and a hematocolpos was found and Herlyn-Werner-Wunderlich syndrome was suspected; 10 years after the diagnosis she had a planned pregnancy. She presented frequent contractions following the 15th week of pregnancy and fortunately there were no complications or premature labor. Labor was inducted at 40 weeks and 6 days without progress and a cesarean section was indicated and performed without complications. Herlyn-Werner-Wunderlich syndrome often goes unnoticed, leading to inadequate treatment. Individuals with Herlyn-Werner-Wunderlich syndrome commonly face fertility issues, such as high miscarriage rate (21-33%), and obstetric complications, such as spontaneous abortions (40% risk), intrauterine growth restriction, postpartum hemorrhage, increased fetal mortality, preterm delivery (21-29%), and elevated rates of cesarean sections. In addition, there is higher susceptibility of developing endometriosis, especially with hemivaginal obstruction, and pelvic adhesions. CONCLUSION: Early diagnosis enables timely treatment and, consequently, fewer complications. Still, when these factors are absent, vaginal birth may still be possible. The true prevalence and incidence of complications related to Herlyn-Werner-Wunderlich syndrome are still unknown.

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Endometriosis , Humanos , Femenino , Adulto , Endometriosis/complicaciones , Embarazo , Útero/anomalías , Útero/diagnóstico por imagen , Cesárea , Riñón/anomalías , Conductos Paramesonéfricos/anomalías , Anomalías Múltiples , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/diagnóstico por imagen , Vagina/anomalías , Complicaciones del Embarazo , Enfermedades Renales/congénito , Enfermedades Renales/diagnóstico

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Obstructed hemivagina and ipsilateral renal anomaly syndrome (OHVIRA) also known as Herlyn-Werner-Wunderlich syndrome is a rare type of Müllerian duct anomaly with concomitant mesonephric duct anomalies. It is characterized by uterus didelphys, obstructed hemi-vagina, and commonly renal agenesis however; other types of mesonephric duct anomalies such as duplicated kidneys, dysplastic kidneys, rectovesical bands, or crossed fused ectopia have also been reported. We present a case report of a 21-year-old female patient experiencing new-onset vaginal bleeding and pelvic pain over the past month. Subsequent multi-sequence MRI revealed characteristic features indicative of OHVIRA syndrome. Clinical manifestations typically encompass pelvic pain and menstrual abnormalities but mainly depend upon the presence of communication between the hemi-uterus. This article aims to discuss the clinical presentation, types, and diagnostic utility of ultrasound and MRI in OHVIRA syndrome. Additionally, we discuss the possible management plans.

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INTRODUCTION: Herlyn-Werner-Wunderlich syndrome (HWWS) is characterized by uterine didelphys, unilateral cervical obstruction, and ipsilateral renal defects. Owing to its rarity, no standard surgical approach exists. PRESENTATION OF CASE: An 11-year-old girl with severe dysmenorrhea had a duplicated uterus, a right cervical hemorrhagic cyst, and right ipsilateral kidney agenesis, indicative of HWWS. As transvaginal surgery was challenging, we turned to laparoscopic surgery for abdominal cavity inspection and surgical assistance. A longitudinal incision was made on the right uterus, followed by inserting a catheter tube fixed to an intrauterine device (IUD) into the right cervical canal from the anterior wall of the right uterine horn. Subsequently, the right external cervical os was inverted to prevent restenosis. Postoperatively, the hemorrhagic cyst at the right cervix disappeared. The patient had no symptom recurrence 24 months after the surgery. DISCUSSION: The preoperative diagnosis for female genital malformations is complicated, and transvaginal manipulation is often difficult in adolescent girls. Laparoscopy is a valuable tool for evaluating female genital malformations, allowing for a thorough diagnosis and safe surgical treatment. In cases of female genital malformation with cervical obstruction, as in this case, reconstruction of the uterine cervix is important to prevent restenosis after surgery. CONCLUSION: In female genital malformations, laparoscopy provides a comprehensive evaluation of the malformation, assisting in a precise diagnosis and safe surgical treatment. Insertion of the catheter tube with IUD into the uterus and reconstruction of the cervix contribute to preventing restenosis.

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Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized genital anomalies have been reported in adolescents and young adults with VACTERL association. We sought to determine the frequency and severity of genital anomalies in VACTERL patients and identify which core features were more frequently associated with genital anomalies. A retrospective chart review from January 2010 to October 2021 identified 211 patients with two or more core VACTERL features, 34% of whom had a genital anomaly. The majority of genital anomalies (83% of those in males and 90% in females) were classified as functionally significant (requiring surgical intervention or causing functional impairment). The frequency of genital anomalies in the VACTERL cohort was higher if anorectal malformations or renal anomalies were present in both males and females and if vertebral anomalies were present in females. Due to their functional significance, genital anomalies should be assessed in all patients with two or more core features of VACTERL association, especially in those with anorectal or renal anomalies. Most genital anomalies in males will be detected on physical examination but additional investigation is often needed to detect genital anomalies in females. The timing and type of investigation are subjects for future study.

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Canal Anal , Esófago , Cardiopatías Congénitas , Riñón , Deformidades Congénitas de las Extremidades , Columna Vertebral , Tráquea , Humanos , Masculino , Femenino , Canal Anal/anomalías , Canal Anal/patología , Deformidades Congénitas de las Extremidades/patología , Deformidades Congénitas de las Extremidades/genética , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/epidemiología , Esófago/anomalías , Esófago/patología , Columna Vertebral/anomalías , Columna Vertebral/patología , Tráquea/anomalías , Tráquea/patología , Adolescente , Cardiopatías Congénitas/patología , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/diagnóstico , Riñón/anomalías , Riñón/patología , Adulto , Estudios Retrospectivos , Niño , Adulto Joven , Preescolar , Anomalías Urogenitales/epidemiología , Anomalías Urogenitales/genética , Anomalías Urogenitales/diagnóstico , Anomalías Urogenitales/patología , Lactante , Malformaciones Anorrectales/epidemiología , Malformaciones Anorrectales/genética , Malformaciones Anorrectales/diagnóstico , Malformaciones Anorrectales/patología , Genitales/anomalías , Genitales/patología

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INTRODUCTION AND IMPORTANCE: Crossed fused renal ectopia is one of the rare congenital anomalies in which a kidney is found on the side opposite to its normal anatomical location and is fused with the contralateral kidney. Most patients are asymptomatic and diagnosed incidentally. CASE PRESENTATION: In this case report we present a 60 year old woman diagnosed with a left to right crossed fused renal ectopia with fusion of the left kidney to the inferior pole of the right kidney. The patient presented with vague abdominal pain and diagnosis was made with abdominal ultrasound and CT urography. CLINICAL DISCUSSION: Though usually asymptomatic, a number of anomalies and complications can be associated with crossed fused renal ectopia including obstruction, stone disease, and tumors. Evaluation and diagnosis usually requires cross sectional imaging. Patients who are asymptomatic and without complications can be managed conservatively. CONCLUSION: Crossed fused renal ectopia is one of the rare congenital anomalies which can be associated which needs cross-sectional imaging for adequate evaluation. Associated anomalies and complications should be carefully looked for since management depends on it.

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INTRODUCTION: There are several well-described presentations of uterine didelphys (UD): UD without vaginal septum, UD with non-obstructed longitudinal vaginal septum, or UD with duplicated vaginas and an obstructed hemivagina on one side with ipsilateral renal anomaly. STUDY OBJECTIVE: To describe another variant of UD and compare the presentation and management across different institutions METHODS: This was a retrospective case series approved by the NASPAG Fellows Research Consortium. Participating institutions obtained IRB approval. Inclusion criteria included a diagnosis of UD and unilateral cervicovaginal agenesis/dysgenesis (CVAD). Descriptive statistics were used. RESULTS: Five patients met the inclusion criteria, with ages ranging from 13 to 27 years. Presenting symptoms included dysmenorrhea (80%), irregular bleeding (40%), acute onset left lower quadrant pain (20%), and abdominal mass (20%). Three patients had additional known abnormalities, including solitary kidney and solitary adrenal gland. All patients underwent pelvic magnetic resonance imaging. Two cases were only suspicious for unilateral CVAD on imaging and required pathology review postoperatively to confirm diagnosis. Two cases required a 2-staged approach with an initial diagnostic surgery followed by a second definitive procedure. Three patients were noted to have endometriosis intraoperatively. Postoperative follow-up ranged from 2 months to 2 years, with 1 patient reporting chronic pelvic pain. CONCLUSION: Diagnosis on the basis of pelvic imaging can be difficult, as this unique variant may mimic classic obstructed hemivagina with ipsilateral renal anomaly. In patients with UD with unilateral CVAD, standard management is removal of the obstructed uterine horn. This multicenter series stresses awareness about the clinical presentation, distinguishes cases of cervical agenesis from dysgenesis, and reviews approaches to management.

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Enfermedades Renales , Anomalías Urogenitales , Didelfo Uterino , Femenino , Humanos , Riñón/anomalías , Vagina/cirugía , Vagina/anomalías , Estudios Retrospectivos , Útero/cirugía , Útero/anomalías , Imagen por Resonancia Magnética

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STUDY OBJECTIVE: Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) includes uterine didelphys, unilateral obstructed hemivagina, and ipsilateral renal anomaly. Surgical management of this condition relies on accurate diagnosis to excise the obstructed longitudinal vaginal septum (OLVS). Vital considerations involve identifying the side affected, ipsilateral renal anomaly (IRA), thickness of the septum (TS), septal axis (SA), and distance of the septum to perineum (DSP). The study aimed to evaluate the preoperative characteristics, imaging findings, and surgical outcomes of OHVIRA. METHODS: Institutional review board approval was obtained for this retrospective chart review. ICD-10 codes identified OHVIRA cases between 2012 and 2019 at a single children's hospital. Patient demographic characteristics, magnetic resonance imaging findings, surgical management, outcomes, and complications were reviewed. Descriptive statistics were utilized. RESULTS: Twenty-six patients met inclusion criteria. Most were diagnosed at puberty (92%). Abdominal pain (50%) was the most common presenting complaint. The mean age of diagnosis was 13.2 years overall and 11.2 years for those with regular cycles vs 13.4 years for those with irregular cycles. Preoperative imaging showed predominant right-sided OLVS (50%), IRA (77%), and oblique SA (65%). All patients underwent vaginoscopy, septum resection, and vaginoplasty, except 1 who was managed with an abdominal drain as a neonate. Four required postoperative vaginal stent or Foley, with DSP greater than 5 cm in all cases. One intraabdominal abscess complication occurred. No instances of hematocolpos re-accumulation or reoperation were observed during the 3-year follow-up period. CONCLUSION: This study demonstrates that detailed preoperative planning and a systematic surgical approach lead to favorable outcomes in OHVIRA irrespective of the OLVS laterality, TS, SA, or DSP.

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Anomalías Múltiples , Enfermedades Renales , Enfermedades Vaginales , Niño , Femenino , Recién Nacido , Humanos , Adolescente , Riñón/anomalías , Anomalías Múltiples/cirugía , Estudios Retrospectivos , Enfermedades Renales/diagnóstico , Útero/anomalías , Vagina/cirugía , Vagina/anomalías , Imagen por Resonancia Magnética/métodos

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Congenital anomalies of the kidneys and urinary tracts（CAKUT）include a wide range of structural malformations resulting from defects in the morphogenesis of the kidney and the urinary tract. Congenital renal anomaly is common in CAKUT. The pathogenesis of congenital renal anomaly is considered to be multi-factor，involving maternal or external environment，and heredity. With the continuous progress of molecular diagnosis technology，genetic factors have attracted more and more attention. The PBX1 gene was initially discovered by the formation of an E2A-PBX1 fusion gene from a t（1；19）（q23；p13.3）chromosome translocation，which results in pre-B-cell lymphoblastic leukemia.PBX1 gene mutation can cause congenital renal and urogenital malformation syndromes with or without hearing loss，ear abnormalities，and developmental delay. This review deepens the understanding of the role of genes in regulating kidney development by describing the embryonic basis of kidney development，the structure and function of the PBX1 gene，and the pathogenesis of renal anomalies caused by mutations. Further，it summarizes the phenotype and genotype of the PBX1 gene，in order to promote the diagnosis，treatment，and determination progression of congenital renal anomaly.

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STUDY OBJECTIVE: To compare the anatomic variation between patients with a diagnosis of an obstructed hemivagina with an anorectal malformation (ARM) and those without an ARM. METHODS: This was a retrospective chart review conducted at a single tertiary children's hospital. Patients with an obstructed hemivagina seen from 2004 to 2019 were included. RESULTS: We identified a total of 9 patients diagnosed with an obstructed hemivagina: 4 patients with a history of ARM and 5 patients without an ARM. Patients presented with obstructive symptoms between the ages of 11 and 20. Two-thirds of patients had a left-sided obstruction. All patients without an ARM had ipsilateral congenital anomalies of the kidney and urinary tract. Half the patients with a history of ARM had an ipsilateral renal anomaly, and the other half had a contralateral renal anomaly. CONCLUSION: Obstructed hemivagina occurs in patients with a history of ARM. However, unlike patients with isolated obstructed hemivagina and ipsilateral renal anomaly (OHVIRA), patients with an ARM and an obstructed hemivagina can present with associated renal anomalies on either the ipsilateral or contralateral side. In our small case series, patients with a history of ARM had high septa and required more complex surgical management due to the inability to access the septum vaginally. Knowledge of renal anatomy and ureteral path is important because a hysterectomy may be needed to relieve the obstruction in patients with ARMs. A larger case series is needed to better characterize the spectrum of complex anomalies in patients with ARMs.

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Malformaciones Anorrectales , Enfermedades Renales , Niño , Femenino , Humanos , Adolescente , Adulto Joven , Adulto , Malformaciones Anorrectales/complicaciones , Malformaciones Anorrectales/cirugía , Útero/anomalías , Vagina/cirugía , Vagina/anomalías , Estudios Retrospectivos , Enfermedades Renales/congénito , Riñón/anomalías

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Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a very rare type of Müllerian duct anomaly. Cases of OHVIRA syndrome have varied clinical manifestations. We report the case of a 15-year-old virgin with endometrial cyst and OHVIRA syndrome. Magnetic resonance imaging confirmed the diagnosis of OHVIRA syndrome. A salpingo-oophorectomy laparotomy was performed, but the patient refused to perform a septotomy or vaginal septal resection. We compared the cases of OHVIRA syndrome that we found with several other reports. The complaints of patients with OHVIRA syndrome may vary from one another, with different histories. Imaging investigations can confirm the diagnosis. The main treatment in OHVIRA syndrome is intended to alleviate symptoms that appear.

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Herlyn-Werner-Wunderlich syndrome, also known as obstructed hemivagina and ipsilateral renal anomaly (OHVIRA), is a Müllerian duct anomaly. It is a rare clinical condition consisting of a duplicated uterus with an oblique vaginal septum that causes partial genital tract outflow obstruction. A urinary tract anomaly, most commonly renal agenesis, is usually present on the obstructed side. The diagnosis of genital tract outflow obstruction is often delayed due to the normal functioning of the unaffected side. The most frequent complications are dysmenorrhea, chronic pelvic pain, infection, infertility and endometriosis. This report describes a 17-year-old G0P0 patient with a history of severe dysmenorrhea and left-sided renal agenesis, who was admitted for complaints of foul vaginal discharge over the past 3 months that was unsuccessfully treated with antibiotics. Transrectal ultrasound revealed the presence of 2 separate hemicavities on transverse and longitudinal views. A cystic lesion with ground-glass opacities was detected between the bladder and a normal-appearing cervix, which was determined to be hematocolpos. The diagnosis of OHVIRA was made. This case highlights the importance of excluding a Müllerian anomaly in the presence of renal system abnormalities. Being aware of the type of anomalies, combinations and variants is crucial to determine the diagnosis and the best surgical approach. Ultrasound was an invaluable imaging exam to determine the type of anomaly and its complexity. Awareness of this syndrome and its variants will prevent misdiagnosis and will help to define the appropriate treatment for these patients.

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Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) is a rare malformation that not only causes severe menstrual cramps shortly after menarche but can also lead to endometriosis and infection in the future. We report a case of OHVIRA successfully managed by vaginoscopic excision of the vaginal septum. A 12-year-old virgin girl presented to our hospital with dysmenorrhea and lower abdominal pain. OHVIRA was diagnosed using magnetic resonance imaging. Vaginoscopic surgery was performed for drainage of hematocolpos and excision of the vaginal septum. Vaginoscopic excision of the vaginal septum was performed using a resectoscope, without a vaginal speculum. The procedure was completed safely without injuring the hymen. This is the first case report of successful excision of the vaginal septum by vaginoscopic surgery for OHVIRA in Japan. Vaginoscopic excision may be one of the effective options for the treatment of vaginal obstruction.

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Enfermedades Renales , Riñón , Femenino , Humanos , Niño , Riñón/cirugía , Riñón/anomalías , Vagina/anomalías , Endoscopía/métodos , Dismenorrea , Útero/cirugía , Útero/anomalías

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Anatomic variations in the urogenital tract have generally been diagnosed through intravenous urography as a modality of choice. In recent years, computerized tomography (CT) urogram has replaced the traditional intravenous imaging of the genitourinary tract. Hematuria, tumoral mass, obstructive uropathy, and congenital collecting system abnormalities are indications for CT imaging. In this report, we present a young woman with intermittent right flank pain and recent urinary tract infection. Her history was also positive for spontaneous abortion. She was referred to the Radiology Clinic for a CT urography. Our aim, in this case report, is to highlight the role of CT urography in the early diagnosis of anatomical variations of the urogenital system and appropriate prevention of clinical progression.

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INTRODUCTION: Despite the well-established embryological relationship in the development of renal and Müllerian structures, no clear guidelines exist regarding screening for Müllerian anomalies (MA) in the setting of a renal anomaly (RA). Delayed diagnosis of MA can have significant reproductive consequences. OBJECTIVE: To investigate the prevalence of coexisting MA in patients with congenital RA. STUDY DESIGN: This is a retrospective cohort study of females age 12-35 years with a diagnosis of RA, identified by diagnosis codes, who were followed for care between 2013 and 2020. Data were collected on demographics, medical history, clinical presentation, and imaging studies. Descriptive statistics were used to summarize the data. This study was IRB approved. RESULTS: A total of 465 patients were included in this study, of whom 326 patients (70.3%) had a pelvic evaluation during the study period. Of these 326 patients, 125 (38.3%) were found to have coexistent MA. About one-third of patients who underwent pelvic evaluation due to pain were found to have MA. For 69.6% (87/125) of patients with MA, the RA was diagnosed prior to the MA. The average age at time of RA diagnosis was 6.4 ± 8.8 years and the average age of MA diagnosis was 16.4 ± 6.9 years. Forty-eight (38.4%) patients had obstructive anomalies. Of the Müllerian obstructions, 93.8% were treated with urgent surgery and the remainder started on hormonal suppression. The prevalence of MA was dependent on the RA diagnosis (Figure). Of patients with a solitary kidney, 67.1% were diagnosed with MA. For other parenchymal RA, the prevalence of MA was 20-23%. In patients with solitary kidney, uterus didelphys was the most common MA (52.1%). Thirty percent of patients with a solitary kidney were diagnosed with an obstructive MA. CONCLUSIONS: In this study, 38% of patients with RA who underwent a pelvic evaluation were found to also have MA. Our study shows the strongest association between MA and solitary kidney, but also emphasizes a significant risk with other RA. Almost 40% of patients with diagnosed MA were found to have an obstruction that required urgent treatment. Delays in diagnosis and treatment of Müllerian obstructions can be detrimental for future reproductive health, due to risk of chronic pain, infertility, infection, and endometriosis. Given the high prevalence of MA in patients with RA, especially those with congenital solitary kidney, routine screening with pelvic ultrasound should be performed around the age of expected menarche.

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Enfermedades Renales , Riñón Único , Anomalías Urogenitales , Femenino , Humanos , Niño , Adolescente , Adulto Joven , Adulto , Riñón Único/diagnóstico , Estudios Retrospectivos , Enfermedades Renales/diagnóstico , Anomalías Urogenitales/complicaciones , Anomalías Urogenitales/diagnóstico , Anomalías Urogenitales/epidemiología , Riñón/anomalías , Útero/anomalías , Vagina/anomalías

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BACKGROUND: Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) is a rare congenital anomaly characterized by uterus didelphys, unilateral obstructed hemivagina, and ipsilateral renal anomaly. CASE: Autopsy performed on a third trimester stillborn fetus unexpectedly revealed uterine didelphys, an obstructed left hemivagina, and a left pelvic, atrophic, duplex kidney, with both left ureters entering the obstructed left hemivagina. Furthermore, the fetus had an imperforate anus, a single right umbilical artery, and spina bifida occulta. SUMMARY AND CONCLUSION: Although rare, OHVIRA is a well-documented congenital anomaly. However, prior to this case, there had been no description of OHVIRA in an autopsy or in a fetus. Furthermore, the association of OHVIRA, anorectal malformation, and spinal bifida has never been reported. By sharing this case, we hope to increase the awareness of this entity among perinatal healthcare providers and to help further elucidate genitourinary embryology, which is still not fully understood.

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Anomalías Múltiples , Enfermedades Renales , Autopsia , Femenino , Feto , Humanos , Riñón/anomalías , Enfermedades Renales/congénito , Embarazo , Síndrome , Útero/anomalías , Vagina/anomalías

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BACKGROUND: A Japanese woman in her early twenties had committed suicide, jumped from a 25-meter high bridge into a lake. She had been suffering from severe dysmenorrhea and general fatigue monthly. RESULTS: A forensic autopsy revealed indications of a bicorporeal uterus, obstructed hemi-vagina, and ipsilateral renal agenesis, which lead to a diagnosis of obstructed hemi-vagina and ipsilateral renal anomaly (OHVIRA) syndrome. On the right side of the uterus, an enclosed cavity composed of black clots was observed. Histological findings suggested that her endometrium was in the early proliferative phase, implying that she was in the menstrual phase just before her death. She may have been suffering from severe lower abdominal pain from the increased pressure of the closed uterus cavity. CONCLUSIONS: This case indicates that dysmenorrhea from undiagnosed OHVIRA syndrome can possibly lead to a suicide attempt. In Japan, because suicide was the leading cause of death for people aged 15 to 39 in 2019, preventive measures for suicide should be promoted. The present case also suggests that intervention for dysmenorrhea may prevent this in adolescent woman.

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Dismenorrea , Riñón , Adulto , Causalidad , Dismenorrea/diagnóstico , Dismenorrea/etiología , Femenino , Humanos , Síndrome , Vagina , Adulto Joven

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Optimal management of duplication anomalies may include an upper or lower tract surgical approach. In the contemporary era, the robot-assisted laparoscopic heminephrectomy (RALHN) and robot-assisted laparoscopic ipsilateral ureteroureterostomy (RALIUU) are viable interventions predicated on clinical, institutional and surgeon preferences. We present a multi-institutional comparative analysis aiming to compare the outcomes of RALHN and RALIUU to see if either of the approaches confers an advantage over the other in treating duplex renal anomalies needing intervention. We completed a retrospective review of consecutive children undergoing RALIUU at Hospital A and RALHN at Hospital B from January 2009 to March 2017. The primary outcome was 'surgical success' defined by the resolution of clinical symptoms, improved radiological parameters, and no unplanned subsequent interventions till the time of study completion. Secondary outcomes included operative parameters, complications, and subsequent urinary infections. There were 39 RALIUU and 28 RALHN. Baseline demographic and clinical parameters across two cohorts were similar. The primary outcome of 'surgical success' was 100% across both cohorts. There were no major surgical complications, and the incidence of postoperative urinary tract infection was minimal and similar for both groups. Operative time favored RALHN; blood loss and analgesic requirements were minimal in both cohorts. Both RALIUU and RALHN are definitive surgical interventions in children with complex duplex moieties, delivering satisfactory surgical outcomes with a low complication profile and marginal differences in the postoperative patient outcomes. This pilot bi-institutional study provides the basis for a larger collaboration to further define optimal techniques, standardize surgical care pathways, and interrogate long-term outcomes.

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Laparoscopía , Procedimientos Quirúrgicos Robotizados , Robótica , Uréter , Infecciones Urinarias , Niño , Humanos , Procedimientos Quirúrgicos Robotizados/métodos , Nefrectomía/métodos , Uréter/cirugía , Laparoscopía/métodos , Estudios Retrospectivos , Resultado del Tratamiento

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BACKGROUND@#A Japanese woman in her early twenties had committed suicide, jumped from a 25-meter high bridge into a lake. She had been suffering from severe dysmenorrhea and general fatigue monthly.@*RESULTS@#A forensic autopsy revealed indications of a bicorporeal uterus, obstructed hemi-vagina, and ipsilateral renal agenesis, which lead to a diagnosis of obstructed hemi-vagina and ipsilateral renal anomaly (OHVIRA) syndrome. On the right side of the uterus, an enclosed cavity composed of black clots was observed. Histological findings suggested that her endometrium was in the early proliferative phase, implying that she was in the menstrual phase just before her death. She may have been suffering from severe lower abdominal pain from the increased pressure of the closed uterus cavity.@*CONCLUSIONS@#This case indicates that dysmenorrhea from undiagnosed OHVIRA syndrome can possibly lead to a suicide attempt. In Japan, because suicide was the leading cause of death for people aged 15 to 39 in 2019, preventive measures for suicide should be promoted. The present case also suggests that intervention for dysmenorrhea may prevent this in adolescent woman.

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Adulto , Femenino , Humanos , Adulto Joven , Causalidad , Dismenorrea/etiología , Riñón , Síndrome , Vagina

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OBJECTIVES: To assess the clinical utility of prenatal chromosomal microarray analysis (CMA) in fetuses with abnormal renal sonographic findings, and to evaluate the association of pathogenic or likely pathogenic copy number variants (P/LP CNVs) with different types of renal abnormality. METHODS: This was a retrospective study of fetuses at 14-36 weeks screened routinely for renal and other structural abnormalities at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. We retrieved and analyzed data from fetuses with abnormal renal sonographic findings, examined between January 2013 and November 2019, which underwent CMA analysis using tissue obtained from chorionic villus sampling (CVS), amniocentesis or cordocentesis. We evaluated the CMA findings according to type of renal ultrasound anomaly and according to whether renal anomalies were isolated or non-isolated. RESULTS: Ten types of renal anomaly were reported on prenatal ultrasound screening, at a mean ± SD gestational age of 24.9 ± 4.8 weeks. The anomalies were diagnosed relatively late in this series, as 64% of cases with an isolated renal anomaly underwent cordocentesis rather than CVS. Fetal pyelectasis was the most common renal ultrasound finding, affecting around one-third (34.32%, 301/877) of fetuses with a renal anomaly, but only 3.65% (n = 11) of these harbored a P/LP CNV (comprising: isolated cases, 2.37% (4/169); non-isolated cases, 5.30% (7/132)). Hyperechogenic kidney was found in 5.47% (n = 48) of fetuses with a renal anomaly, of which 39.58% (n = 19) had a P/LP CNV finding (comprising: isolated cases, 44.44% (16/36); non-isolated cases, 25.00% (3/12)), the highest diagnostic yield among the different types of renal anomaly. Renal agenesis, which accounted for 9.92% (n = 87) of all abnormal renal cases, had a CMA diagnostic yield of 12.64% (n = 11) (comprising: isolated cases, 11.54% (9/78); non-isolated cases, 22.22% (2/9); unilateral cases, 11.39% (9/79); bilateral cases, 25.00% (2/8)), while multicystic dysplastic kidney (n = 110), renal cyst (n = 34), renal dysplasia (n = 27), crossed fused renal ectopia (n = 31), hydronephrosis (n = 98), renal duplication (n = 42) and ectopic kidney (n = 99) had overall diagnostic rates of 11.82%, 11.76%, 7.41%, 6.45%, 6.12%, 4.76% and 3.03%, respectively. Compared with the combined group of CMA-negative fetuses with any other type of renal anomaly, the rate of infant being alive and well at birth was significantly higher in CMA-negative fetuses with isolated fetal pyelectasis or ectopic kidney, whereas the rate was significantly lower in fetuses with isolated renal agenesis, multicystic dysplastic kidney or severe hydronephrosis. The most common pathogenic CNV was 17q12 deletion, which accounted for 30.14% (22/73) of all positive CMA findings, with a rate of 2.51% (22/877) among fetuses with an abnormal renal finding. Fetuses with 17q12 deletion exhibited a wide range of renal phenotypes. Other P/LP CNVs in the recurrent region that were associated with prenatal renal ultrasound abnormalities included 22q11.2, Xp21.1, Xp22.3, 2q13, 16p11.2 and 1q21, which, collectively, accounted for 2.17% (19/877) of the fetuses with prenatal renal anomalies. CONCLUSIONS: In this retrospective review of CMA findings in a large cohort of fetuses with different types of renal ultrasound abnormality, the P/LP CNV detection rate varied significantly (3.03-39.58%) among the different types of kidney anomaly. Our data may help in the decision regarding whether to perform prenatal genetic testing in fetuses with renal ultrasound findings. Specifically, prenatal CMA testing should be performed in cases of hyperechogenic kidney, regardless of whether or not the anomaly is isolated, while it should be performed postnatally rather than prenatally in cases of fetal pyelectasis. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

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Anomalías Congénitas/diagnóstico por imagen , Variaciones en el Número de Copia de ADN , Enfermedades Renales/congénito , Riñón/anomalías , Diagnóstico Prenatal/estadística & datos numéricos , Ultrasonografía Prenatal/estadística & datos numéricos , Adulto , China , Aberraciones Cromosómicas , Estudios de Cohortes , Femenino , Humanos , Riñón/diagnóstico por imagen , Enfermedades Renales/diagnóstico por imagen , Embarazo , Estudios Retrospectivos

RESUMEN

BACKGROUND: Obstructive hemivagina with ipsilateral renal anomaly (OHVIRA) syndrome is a rare, complex congenital anomaly with an unknown prevalence. However, case reports and small studies on OHVIRA syndrome have increased rapidly in the last 20 years, which may be related to increased use of imaging, surgical techniques, and prenatal sonography. OBJECTIVE: This study aimed to analyze and compare patients with OHVIRA syndrome diagnosed in the prepubertal and postpubertal periods to understand the disease characteristics and improve clinical management. STUDY DESIGN: A retrospective cohort study was conducted including 65 patients with OHVIRA syndrome who were diagnosed between January 2004 and September 2018 at a tertiary university hospital. RESULTS: Among the 65 patients, 44 patients were diagnosed with OHVIRA syndrome during the prepubertal period and 21 patients were diagnosed postpubertally. Compared with postpubertally diagnosed patients with OHVIRA syndrome, those diagnosed prepubertally were mostly asymptomatic at initial presentation (82% versus [vs.] 0%, P < 0.001), had a higher incidence of ectopic ureter (68% vs. 24%, P = 0.001), and presented with a higher incidence of multicystic dysplastic kidney (61% vs. 19%, P = 0.01). Approximately half of the patients with prepubertal OHVIRA syndrome (53%) showed spontaneous resolution of hemivaginal fluid within 5 years. Among the patients with postpubertally diagnosed OHVIRA syndrome, those in the pain-dominant group had a larger amount of hemivaginal fluid than those in the painless discharge-dominant group (54% vs. 10%, P = 0.036). Superimposed infection of hemivaginal fluid was markedly present in the discharge-dominant group (9% vs. 75%, P = 0.006). CONCLUSIONS: Clinical characteristics of patients with OHVIRA syndrome are altered based on the time of initial diagnosis. Follow-up and timely intervention should be proceeded accordingly.

Asunto(s)

Anomalías Múltiples , Enfermedades Renales , Anomalías Múltiples/epidemiología , Femenino , Humanos , Riñón/diagnóstico por imagen , Embarazo , Estudios Retrospectivos , Útero , Vagina