High incidence of imperforate vagina in ADGRA3-deficient mice.

BACKGROUND: Ten percent of the female population suffers from congenital abnormalities of the vagina, uterus, or oviducts, with severe consequences for reproductive and psychological health. Yet, the underlying causes of most of these malformations remain largely unknown. ADGRA3 (GPR125) is involved in WNT signaling and planar cell polarity, mechanisms vital to female reproductive tract development. Although ADGRA3 is a well-established spermatogonial stem cell marker, its role within the female urogenital system remains unclear. RESULTS: In this study, we found Adgra3 to be expressed throughout the murine female urogenital system, with higher expression pre-puberty than after sexual maturation. We generated a global Adgra3-/- mouse line and observed imperforate vagina in 44% of Adgra3-/- females, resulting in distension of the reproductive tract and infertility. Ovarian morphology, plasma estradiol, ovarian Cyp19a1, and vaginal estrogen receptor α (Esr1) expression were unaffected. However, compared to controls, a significantly lower bone mineral density was found in Adgra3-/- mice. Whereas vaginal opening in mice is an estrogen-dependent process, 17ß-estradiol treatment failed to induce vaginal canalization in Adgra3-/- mice. Furthermore, a marked reduction in vaginal and ovarian progesterone receptor expression was observed concomitant with an upregulation of apoptotic regulators Bcl2, Bid, and Bmf in adult Adgra3-/- females with a closed vagina. CONCLUSIONS: Our collective results shed new insights into the complex mechanisms by which the adhesion receptor ADGRA3 regulates distal vaginal tissue remodeling during vaginal canalization via altered sex hormone responsiveness and balance in apoptotic regulators. This highlights the potential of ADGRA3 as a target in diagnostic screening and/or therapy for obstructive vaginal malformations in humans.

A rare variant of mullerian agenesis: a case report and review of the literature.

INTRODUCTION: Menstruation is a developmental milestone and usually marks healthy and normal pubertal changes in females. Menarche refers to the onset of first menstruation in a female. The causes of primary amenorrhea include outflow tract abnormalities, resistant endometrium, primary ovarian insufficiency, and disorders of the hypothalamus, pituitary, or other endocrine glands. A rare variant of mullerian agenesis, which warrants an individualized approach to management, is presented here. CASE REPORT: We present here the case of a 25-year-old Indian female with pain in the lower abdomen and primary amenorrhea. After a thorough history, clinical examination, imaging, and diagnostic laparoscopy, two small uteri, a blind upper half vagina, bilateral polycystic ovaries, and a blind transverse connection between the two uteri-a horseshoe band cervix-were detected, which confirmed the diagnosis of mullerian agenesis. There was evidence of adenomyosis in the mullerian duct element. This is a rare form of Müllerian abnormality with an unusual presentation. CONCLUSION: Mullerian agenesis is the most common cause of primary amenorrhea with well-developed secondary sexual characteristics. There are various forms of mullerian agenesis. Most of the cases are managed by a multidisciplinary team. Rare variants warrant an individualized approach to management.

A 13-Year-Old Girl with Caudal Regression Syndrome and Distal Vaginal Atresia: A Case Report.

BACKGROUND Caudal regression syndrome (CRS) is a rare anomaly characterized by maldevelopment of the caudal half of the body and can involve the genitourinary system. This report presents the case of a 13-year-old girl diagnosed with CRS and previously unknown distal vaginal atresia, presenting with monthly pelvic pain. CASE REPORT A 13-year-old pre-menarcheal patient with CRS sought emergency care due to debilitating monthly pelvic pain persisting for 3 months. Pelvic examination revealed the absence of a vaginal opening, and a rectal exam showed a 5-cm large bulge anteriorly, along with a 2-cm fibrous septum in the distal portion of the vagina. Pelvic ultrasound and magnetic resonance imaging confirmed the presence of hematometrocolpus and hematosalpinx on the right adnexa, while the left ovary was not identified. Treatment commenced with fixed analgesia and combined continuous oral contraception. Due to the persistent pain and uncertainty regarding the anatomy of the internal reproductive organs, diagnostic laparoscopy with drainage of the hematocolpus was performed 2 weeks later. Six months later, after multidisciplinary discussion, definitive surgery (pull-through vaginoplasty) was carried out, allowing for emotional preparation for postoperative dilation. One year after the definitive surgery, the patient remains asymptomatic, experiencing regular withdrawal bleeding with no signs of obstruction. CONCLUSIONS Patients with musculoskeletal anomalies should undergo urogenital tract evaluation. Timely identification of distal vaginal atresia is pivotal for devising appropriate treatment and averting complications. During the acute phase, laparoscopic drainage can alleviate symptoms and clarify anatomy, without compromising the success of subsequent definitive surgery.

Cloacal Dysgenesis Sequence in a Preterm Neonate.

BACKGROUND Cloaca malformations result from a disproportion of apoptosis, cell growth, and maturation. The range of cloacal malformations is extensive and diverse, with a lack of a straightforward classification system. Cloacal dysgenesis sequence (CDS), also known as urorectal septum malformation sequence, is a rare cloaca variant described as the absence of a perineal orifice. Prenatal magnetic resonance imaging and antenatal ultrasounds may reveal a cloacal malformation; however, many patients are not diagnosed with cloacal malformation until birth. CASE REPORT We present a case of a female neonate delivered by a 23-year-old G2P1T1A0L0 mother who had received comprehensive prenatal care. During pregnancy, bilateral multicystic dysplastic kidneys were identified prenatally, leading to the in utero placement of a vesicoamniotic shunt. The physical exam revealed a distended abdomen with reduced abdominal musculature and laxity, ascites, a vesicoamniotic shunt in place, absent urethra, ambiguous genitalia with no vaginal opening, no perineal opening, and clubfoot. Abdominal radiograph showed findings consistent with significant abdominal ascites. An exploratory laparotomy was performed that included diverting colostomy, mucous fistula creation, tube vaginostomy, removal of the vesicoamniotic shunt, and suprapubic tube placement. The patient recovered well from this operation with no complications. CONCLUSIONS CDS is an uncommon condition in pediatric patients, and although sonographic findings can reveal urinary tract abnormalities, prenatal imaging might not always identify CDS. Our case underscores the uniqueness of the case and the significance of early detection and immediate medical and surgical intervention.

Retroperitoneal 'uterus-like mass' of cervical origin.

We report a rare case of a retroperitoneal uterus-like mass communicating with the endocervix, which presented as abdominal pain and bloating associated with severe irregular vaginal and postcoital bleeding. Our patient did not have any structural abnormalities of the urogenital system or otherwise, which makes a müllerian defect unlikely in our case. Based on the diagnostic criteria for the choristoma, that theory would be excluded here as the mass communicated with the endocervix. This strengthens the theory of metaplasia, under the effect of oestrogen and accelerated by the hyperoestrogenic state of pregnancy as the most likely postulate for our patient. Although the uterus-like mass is not commonly reported, it should be considered as a possible differential for pelvic masses.

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

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

Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways.

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a multi-system neurodevelopmental condition caused by deficiency of CREBBP (16p13.3) or EP300 (22q13.2). Müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is defined as congenital agenesis of the uterus, cervix, and upper vagina without a definite genetic cause. INDEX CASE AND CASE SERIES: We present a 14-year-old female with RSTS type 1 (CREBBP, c.4395-2A>C) and MRKH, the first documented in the literature. Following presentation to Gynecology for anticipatory guidance regarding future menstrual suppression and follow-up of previously diagnosed labial adhesions, exam under anesthesia revealed a single urogenital opening with cystoscopy demonstrating a normal urethra and bladder. Laboratory evaluation was consistent with peripubertal female gonadotropins and estradiol, 46,XX karyotype, and normal microarray, and a pelvic MRI confirmed Müllerian agenesis. Given this case, we assessed our cohort of females with RSTS and found that 4 of 12 individuals also had Müllerian anomalies. CONCLUSION: Gynecologic evaluation should be a part of medical care for females with RSTS, particularly in individuals with delayed menarche or abnormal menstrual history, on the basis of the observed association between RSTS and Müllerian anomalies in this case series. Although several candidate genes and copy number variants are associated with MRKH, no candidate genes in close proximity to the 16p13.3 region have been identified to explain both RSTS and MRKH in the index patient. Due to the regulatory nature of CREBBP during embryonic development, we theorize that CREBBP may play a role in the migration of Müllerian structures during embryogenesis.

Successful Use of Acellular Small Intestinal Submucosa Graft in Vaginal Reconstruction.

PURPOSE: Various techniques for neovaginal construction have been employed in the pediatric and adult populations, including the use of intestinal segments, buccal mucosal grafts, and skin grafts. Small intestinal submucosa (SIS) extracellular matrix grafts have been described as a viable alternative, though prior experience is limited. Our purpose was to assess operative characteristics and patient outcomes with neovaginal construction using SIS grafts. METHODS: Thirteen patients underwent vaginoplasty with acellular porcine SIS grafts at our institution between 2018 and 2022. Operative and clinical data, postoperative mold management, vaginal dilating length, and complications were reviewed. RESULTS: Age at time of repair ranged from 13 to 30 years (median 19 years). Patient diagnosis included cloacal anomalies (n = 4), Mayer-Rokitansky-Küster-Hauser syndrome (n = 4), isolated vaginal atresia with or without a transverse vaginal septum (n = 4), and vaginal rhabdomyosarcoma requiring partial vaginectomy (n = 1). Following dissection of the neovaginal space, a silicon mold wrapped with SIS graft was placed with retention sutures and removed on postoperative day 7. Median (IQR) operative time was 171 (118-192) minutes, estimated blood loss was 10 (5-20) mL, and length of stay was 2 (1-3) days. The follow-up period ranged from 3 to 47 months (median 9 months). Two patients developed postoperative vaginal stenosis that resolved with dilation under anesthesia. Mean vaginal length on latest follow-up was 8.97 cm. All thirteen patients had successful engraftment and progressed to performing self-dilations or initiating intercourse to maintain patency. There were no cases of graft reaction or graft extrusion. CONCLUSIONS: We conclude that acellular small intestinal submucosa grafts are effective and safe alternatives for mold coverage in neovaginal construction. Our experience demonstrates minimal perioperative morbidity, early mold removal, and progression to successful dilation with maintenance of a functional vaginal length. Future study on sexual outcomes, patient satisfaction, and comparison against alternative techniques has been initiated. LEVEL OF EVIDENCE: IV. TYPE OF STUDY: Retrospective Study.

Alternative Biological Material for Tissue Engineering of the Vagina: Porcine-Derived Acellular Vaginal Matrix.

BACKGROUND: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a severe congenital disorder characterized by vaginal hypoplasia caused by dysplasia of the Müllerian duct. Patients with MRKH syndrome often require nonsurgical or surgical treatment to achieve satisfactory vaginal length and sexual outcomes. The extracellular matrix has been successfully used for vaginal reconstruction. METHODS: In this study, we developed a new biological material derived from porcine vagina (acellular vaginal matrix, AVM) to reconstruct the vagina in Bama miniature pigs. The histological characteristics and efficacy of acellularization of AVM were evaluated, and AVM was subsequently transplanted into Bama miniature pigs to reconstruct the vaginas. RESULTS: Macroscopic analysis showed that the neovaginas functioned well in all Bama miniature pigs with AVM implants. Histological analysis and electrophysiological evidence indicated that morphological and functional recovery was restored in normal vaginal tissues. Scanning electron microscopy showed that the neovaginas had mucosal folds characteristics of normal vagina. No significant differences were observed in the expression of CK14, HSP47, and α-actin between the neovaginas and normal vaginal tissues. However, the expression of estrogen receptor (ER) was significantly lower in the neovaginas than in normal vaginal tissues. In addition, AVM promoted the expression of ß-catenin, c-Myc, and cyclin D1. These results suggest that AVM might promotes vaginal regeneration by activating the ß-catenin/c-Myc/cyclin D1 pathway. CONCLUSION: This study reveals that porcine-derived AVM has potential application for vaginal regeneration.

Presentation and Management of Uterine Didelphys with Unilateral Cervicovaginal Agenesis/Dysgenesis (CVAD): A Multicenter Case Series.

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.

Obstructed Hemivagina and Renal Anomalies in Patients with and without Anorectal Malformations.

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.

The Use of Urogenital Mobilization Extended by Two Flaps From the Redundant Distal Part of the Urethra in the Repair of the Severe Form of Distal Vaginal Agenesis.

OBJECTIVE: To describe and present the results of the use of urogenital mobilization extended by two flaps from the redundant distal part of the urethra in the correction of a severe form of distal vaginal agenesis. METHODS: During the past 4years (from December 2018 to March 2023), we have performed 2 vaginoplasties using the described procedure. The age of the patients at surgery was 13years. Two girls presented with primary amenorrhea associated with cyclic pelvic pain evolving over several months. Clinical examination revealed a blind vagina and an anterior pelvic mass. Ultrasound and magnetic resonance imaging showed a severe form of distal vaginal agenesis. One patient had a 47,XX+mark karyotype and right vesicoureteral reflux. Two patients underwent urogenital mobilization, guided by a tube introduced into the upper part of the vagina through an abdominal approach, and the use of two flaps from the redundant distal part of the urethra to extend the neovagina to the perineum. RESULTS: The esthetic results were very satisfactory with the disappearance of pelvic pain, and the restoration of a regular flow of menstrual blood without pain. Urinary continence was preserved in two patients. CONCLUSION: This is the first report of the use of urogenital mobilization extended two flaps from the redundant distal part of the urethra in the correction of a severe form of distal vaginal agenesis. This procedure yielded a very satisfactory esthetic and functional results.

Rol de la laparoscopia en el manejo del síndrome OHVIRA: reporte de un caso y su relación con la endometriosis / Role of laparoscopy in the management of OHVIRA syndrome: a case report and its relation to endometriosis

El síndrome de hemivagina obstruida y anomalía renal ipsilateral (OHVIRA) es producido por una alteración en el desarrollo de los conductos de Müller y Wolff en la vida fetal. El síndrome es poco frecuente, se reporta una prevalencia de 1/2.000 a 1/28.000 casos. La endometriosis se presenta en un 19% de los casos complicando esta patología. El tratamiento del síndrome OHVIRA consiste en resecar el tabique vaginal drenando el hematocolpos. Hasta el momento no existe un consenso en recomendar la realización de una laparoscopia diagnóstica. El objetivo de este estudio es reportar la eventual importancia de la laparoscopia diagnóstica/terapéutica como parte del manejo del síndrome OHVIRA.

Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is caused by a defect in the development of Müllerian and Wolffian ducts at fetal life. The syndrome is uncommon, with a reported prevalence of 1/2,000 to 1/28,000 cases. Endometriosis is present in 19% of cases complicating this pathology. Treatment of OHVIRA syndrome consists in resecting the vaginal septum and draining the hematocolpos. Until now there isnt an agreement on recommending diagnostic laparoscopy as part of the treatment. The aim of this study is to report the importance of diagnostic/therapeutic laparoscopy in the management of OHVIRA syndrome.

Two-balloon epistaxis catheter to ensure vaginal patency in a complex case of vaginoplasty for vaginal agenesis: a case report.

Congenital vaginal atresia is a rare anomaly of the female genital tract. Many vaginoplasty procedures have been described, but the postoperative risk of vaginal stenosis remains a challenge. We report a case of isolated distal vaginal agenesis in a patient with neurological impairment where the use of an "alternative" dilator was needed. An 11-year-old girl with Down syndrome was admitted to the Emergency Department complaining of pelvic pain. The clinical evaluation showed a hard and painful pelvic mass associated with an imperforate hymen. Abdominal ultrasound and pelvic MRI were suggestive for hematometrocolpos and absence of the lower third segment of the vagina. Vaginoscopy confirmed the diagnosis of congenital vaginal agenesis. The patient then underwent a laparoscopic-assisted vaginoplasty. Considering the difficult management of the postoperative period, an epistaxis catheter was used as a vaginal stent and dilator. The use of an epistaxis catheter to provide adequate vaginal patency after vaginoplasty can be an alternative solution especially in those cases where calibrations with dilators are difficult or not tolerated.

OHVIRA syndrome: hysteroscopy and intraoperative sonography - a value addition in the management.

We report a postpubertal case of obstructed hemivagina and ipsilateral renal agenesis syndrome who presented with dysmenorrhoea and light menstrual flow. Imaging modalities confirmed the diagnosis after which vaginal septal incision and drainage was performed. In addition, we also performed vaginoscopy using hysteroscope, both preincision and postincision and drainage, to visualise the vagina and to exclude any communication between two hemivaginas. Completeness of drainage was ensured by performing intraoperative sonography. In a few instances, communication (fistula or microperforation) between the two hemivaginas would result in spontaneous haematocolpos decompression, mimicking normal menstrual flow and often delaying diagnosis. The role of direct visualisation under hysteroscopy should be emphasised in such cases. We postulate that hysteroscopy and intraoperative sonography may aid in better diagnostic and therapeutic management in such cases.

Terapia regenerativa en secuela postquirúrgica de neovagina. Caso clínico con síndrome Mayer-Rokitansky / Regenerative therapy applied to post-surgical sequelae of neovagina. Case presentation with Mayer Rokitansky síndrome

Las malformaciones congénitas que incluyen agenesia vaginal requieren tratamiento quirúrgico en la infancia, pero las secuelas deformantes se presentan en edad adulta y son un motivo de consulta al que se debe dar solución.Con este caso pretendemos resaltar la importancia de la integración de técnicas quirúrgicas y complementarias en el tratamiento seguro de las secuelas quirúrgicas invalidantes en pacientes sometidas a reconstrucción vaginal, mostrando los resultados del tratamiento combinado con toxina botulínica y células madre adiposas en una paciente con síndrome de Mayer Rokitansky y estenosis vaginal postquirúrgica.Este tratamiento disminuyó el dolor y la contractura del introito vaginal que permitió la exploración física y la reintegración de la paciente a la vida sexual. Nivel de evidencia científica 4d Terapéutico.(AU)

Congenital malformations that include vaginal agenesis require surgical treatment in childhood, but deforming sequelae present in adulthood constitute a reason for consultation that must be solved.This case is intended to highlight the importance of integrating surgical and complementary techniques in the safe treatment of disabling surgical sequelae in vaginal reconstruction showing the results of the combined treatment with botulinum toxin and adipose stem cells in a patient with Mayer Rokitansky syndrome and post-surgical vaginal stenosis.This treatment decreased the pain and contracture of the vaginal introitus that allowed physical examination and that patient was reintegrated into sexual life.Level of evidence 4d Terapeutic.(AU)

A Case of Solitary Kidney and Single-system Ectopic Ureter Draining Into the Vestibule in an Infant With Müllerian Duct Defect: Was the Bladder Missing?

We report a case of a solitary kidney and a single-system ectopic ureter draining into the vestibule in an infant with a Müllerian duct defect. Due to the absence of the upper vagina and uterus, an extremely underdeveloped bladder masqueraded as the vagina, and bladder agenesis was suspected preoperatively. Urinary continence was achieved using staged bladder surgery without augmentation or urinary diversion.

Pregnancy Outcomes in Patients with Obstructed Hemivagina Ipsilateral Renal Agenesis.

STUDY OBJECTIVE: Obstructed hemivagina with ipsilateral renal agenesis (OHVIRA) is a rare congenital Müllerian anomaly. We sought to explore the impact of OHVIRA on pregnancy outcomes. METHODS: A retrospective chart review identified 8 patients with an OHVIRA diagnosis and at least 1 documented pregnancy. Data collected included demographic characteristics, age at diagnosis and repair, gynecologic history, and pregnancy outcomes. Descriptive analysis was performed. RESULTS: Twenty-three pregnancies were identified among the 8 patients (range 1-5 pregnancies per patient), resulting in 9 term births, 6 preterm births, and 8 first-trimester spontaneous abortions. The most common pregnancy complications were fetal growth restriction (2/15) and preeclampsia with severe features (2/15). The average gestational age at delivery was 37 2/7 weeks; however, 60% (9/15) of live births were at term. Two patients delivered after going into preterm labor, one of whom also had preterm premature rupture of membranes. Of the 15 live births, there were 10 cesarean deliveries, 4 vaginal deliveries, and 1 forceps-assisted vaginal delivery. Three patients (30%) underwent primary cesarean deliveries due to fetal malpresentation. Five live births were repeat cesarean deliveries, and 2 were unscheduled cesareans, at 34 and 36 weeks, due to preeclampsia with severe features. CONCLUSION: This study is among the first to examine pregnancy outcomes in patients with OHVIRA. Among these patients, there were 23 total pregnancies, with higher incidences of spontaneous abortion, preterm birth, breech presentation, and cesarean delivery compared with the general population. This descriptive data set addresses a knowledge gap to help clinicians more effectively advise patients with OHVIRA about pregnancy outcomes.

Malformaciones müllerianas: actualización y revisión a propósito de casos clínicos, 2022 / Müllerian malformations: update and review of clinical cases, 2022

Las malformaciones müllerianas (MM) son un grupo de anomalías estructurales originadas por fallas de desarrollo de los conductos paramesonéfricos o de Müller durante las primeras 16 semanas de gestación. Un oportuno diagnóstico y una correcta clasificación permiten ofrecer el mejor manejo y diferenciar aquellas pacientes que requieren tratamiento quirúrgico. Se realizó una revisión de la literatura sobre MM en las bases de datos Epistemonikos, SciELO, Cochrane y PubMed. Se rescataron todas las pacientes ingresadas con diagnóstico de MM. En el año 2021, la American Society of Reproductive Medicine publicó un consenso en el que se estandarizó la nomenclatura, se amplió el espectro y se simplificó la clasificación. La clínica es variada, e incluye pacientes asintomáticas cuyo diagnóstico es un hallazgo por imágenes. Los mejores estudios imagenológicos son la resonancia magnética (RM) y la ultrasonografía 3D, dejando la histeroscopia y la laparoscopia (método de referencia) como procedimiento diagnóstico-terapéutico. Se presentan casos clínicos desarrollados durante el primer trimestre de 2022. Recomendamos la utilización sistemática de la RM para el diagnóstico de anomalías complejas u obstructivas del aparato genital. El tratamiento de estas patologías debe ser realizado por ginecólogos endoscopistas expertos, e incluye tratamiento médico y quirúrgico, el cual debe ser enfocado en cada paciente dependiendo del tipo de MM y de los deseos de fertilidad.

Müllerian malformations (MM) are a group of structural anomalies caused by developmental failure of the paramesonephric or Müllerian ducts during the first 16 weeks of gestation. Timely diagnosis and classification allow us to offer the best management and to differentiate those patients who require surgical treatment. Literature review on MM in Epistemonikos, SciELO, Cochrane and PubMed databases. All patients admitted with a diagnosis of MM were rescued. In 2021, the American Society of Reproductive Medicine publishes a consensus where it standardizes the nomenclature, broadens the spectrum, and simplifies the classification. The clinical picture is varied and includes asymptomatic patients whose diagnosis is an imaging finding. The best imaging studies are magnetic resonance imaging (MRI) and 3D ultrasonography, leaving hysteroscopy and laparoscopy (gold standard) as diagnostic therapeutic. Clinical cases developed during the first trimester 2022 are presented. We recommend the routine use of MRI for the diagnosis of complex and/or obstructive anomalies of the genital tract. The treatment of these pathologies should be performed by expert endoscopic gynecologists and include medical and surgical treatment, which should be focused on each patient, depending on the type of MM and fertility desires.

Obstructed Hemivagina Ipsilateral Renal Agenesis (OHVIRA) Syndrome-A Retrospective Cohort Analysis of the Sabah Population.

OBJECTIVES: The objectives of the study were to compare the demographic characteristics, presenting complaints, timeliness of diagnosis, and treatments given to all patients diagnosed with obstructive hemivagina ipsilateral renal agenesis (OHVIRA) between the adolescent group (age 10-19) and the adult group (age 20 and above) and to propose a feasible screening test consisting of routine bedside ultrasound to detect renal anomalies in addition to pelvic ultrasound during the assessment of females with gynecologic complications in resource-limited settings. METHOD AND ANALYSIS: We conducted a retrospective cohort analysis of all patients with OHVIRA at our institution, Sabah Women and Children's Hospital, Malaysia, between the 2013 and 2022. Data were collected by reviewing patients' medical notes. RESULTS: There were a total of 18 patients diagnosed with OHVIRA from 2013 to 2022, aged 10-41 years old. Nine patients (50%) presented during adolescence. Most (88.9%) came with symptoms such as abdominal pain, urinary symptoms, abnormal uterine bleeding, foul-smelling vaginal discharge, and primary infertility, whereas only 2 patients (11.1%) were asymptomatic and diagnosed incidentally. Acute abdomen was more common in the adolescent group (P = .015). No significant difference was found on the side of the renal anomaly. CONCLUSION: Presenting symptoms vary and are often mimicked other gynecologic or surgical conditions, making the diagnosis difficult and delayed. Some patients were incidentally diagnosed while being managed for other problems, and it was not uncommon to have unnecessary surgery before the correct diagnosis was made. We suggest that all female patients with abdominal and pelvic complaints should be screened for renal anomaly during pelvic scan to improve diagnostic rates.