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

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

Neonatal jaundice is associated with increased risks of congenital anomalies of the kidney and urinary tract and concomitant urinary tract infection.

The link between neonatal jaundice and urinary tract infection (UTI) remains debated, with congenital kidney and urinary tract anomalies (CAKUT) potentially playing a role. This population-based study aimed to analyze the correlations between neonatal jaundice, CAKUT, and concomitant UTI. The study cohort consisted of 2,078,122 live births from 2004 to 2014. We linked several population-based datasets in Taiwan to identify infants with unexplained neonatal jaundice and their mothers. The primary outcome was the rate of CAKUT occurring within 3 years after delivery, and the presence of concomitant UTI during neonatal jaundice hospitalization. Infants with neonatal jaundice had a significantly higher risk of CAKUT (adjusted odds ratio [aOR] 1.24, 95% confidence interval [CI] 1.11-1.39) during early childhood. Among the subtypes of CAKUT, obstructive uropathy, vesicoureteral reflux and other CAKUT were associated with an increased risk of neonatal jaundice. Infants who underwent intensive phototherapy, had a late diagnosis (> 14 days of postnatal age) or underwent a prolonged duration of phototherapy (> 3 days) exhibited a higher risk of concomitant UTI compared to other infants with jaundice. Our findings indicate a notable association between neonatal jaundice and increased risks of UTIs in the context of CAKUT. This study underscore the importance of vigilant monitoring and timely interventions for neonates presenting with jaundice, while acknowledging the complexity and variability in the progression of CAKUT and its potential connection to UTIs.

An unusual case of severe asphyxia with the fetal position unexpectedly inverted in a malformed uterus: a case report.

BACKGROUND: We present a severe neonatal consequence due to the unexpected and crucial inversion of the fetal position after sudden termination of tocolysis during early labor of a woman with congenital uterine anomaly. It has been reported that congenital uterine anomalies latently affect the fetal position. The clinical pitfalls in childbirth with uterine anomalies are discussed here on the basis of clinical evidence. CASE PRESENTATION: At a perinatal medical center in Japan, a 29-year-old Japanese mother who had a history of bicornuate uterus, received tocolysis to prolong her pregnancy for 5 days during the late preterm period after preterm-premature rupture of the membrane. She gave birth to a 2304 g male neonate of the gestational age of 35 weeks and 5 days with severe asphyxia by means of crash cesarean section for fetal sustained bradycardia after sudden termination of tocolysis. We found the fetal position to reverse from cephalic to breech position during early labor. He ended up having severe cerebral palsy after brain cooling against hypoxic-ischemic encephalopathy for 3 days. The mechanism of inversion from cephalic to breech position without amnionic fluid remains unclear, although women with a known diagnosis of a uterine anomaly have higher risk of adverse outcomes such as malpresentation. CONCLUSIONS: When considering the clinical course of this case on the basis of the medical reports, we suspected that uterine anomalies and changes in intrauterine pressure could cause fetal malpresentation and adverse neonatal outcomes.

Kidney and urogenital abnormalities in Down syndrome: a meta-analysis.

BACKGROUND: Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature.  METHODS: A literature search was undertaken in the Library of Medicine, Web of Science and Excerpta Medica. The search algorithm combined various keywords: (Down syndrome OR trisomy 21 OR mongolism) AND (kidney OR urinary tract OR bladder) AND (malformation OR dysfunction OR anomaly OR abnormality OR size). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used. RESULTS: Eight case-control studies were retained for the final analysis. Three studies addressed the prevalence of kidney and urogenital tract abnormalities: an increased pooled relative risk of 5.49 (95%-CI: 1.78-16.93) was observed in Down syndrome. Penile malformations, obstructive malformations (including urethral valves), dilated urinary tract system, and kidney hypodysplasia were especially common. Three reports addressed the prevalence of lower urinary tract dysfunction: an increased pooled relative risk of 2.95 (95%-CI: 1.15-7.56) was observed. Finally, an autoptic study and an ultrasound study disclosed a reduced kidney size in Down syndrome. CONCLUSIONS: This meta-analysis indicates that abnormalities of the kidney and urogenital tract, lower urinary tract dysfunctions, and a reduced kidney size present with an increased frequency in individuals with Down syndrome.

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.

Robotic-assisted single-site abdominal cerclage in the bicornuate uterus patient with cervical insufficiency.

OBJECTIVE: To demonstrate the surgical techniques for improving safety in robotic-assisted abdominal cerclage in patients with bicornuate uteri complicated by recurrent pregnancy loss and cervical insufficiency. DESIGN: Stepwise demonstration with narrated video footage. SETTING: An academic tertiary care hospital. PATIENTS: Our patient is a 22-year-old G2P0020 with a history of recurrent pregnancy loss. During her first pregnancy, she was asymptomatic until 19 weeks and delivered because of a preterm premature rupture of membranes. A transvaginal cerclage was performed for her second pregnancy at 14 weeks, which ended at 16 weeks because of preterm premature rupture of membranes. The final magnetic resonance imaging report noted a "bicorporeal uterus with duplication of the uterine body, resulting in two markedly divergent uterine horns that are fused at the isthmus... unlike a typical didelphic uterus, a single, non septated cervix is noted, which shows normal appearances, measuring 3.8 cm in length." Given her history of a uterine anomaly and recurrent pregnancy loss in the absence of other biochemical factors, her maternal-fetal medicine specialist referred her to us as the patient strongly desired future viable pregnancies. The patient was counseled on multiple alternatives, including different methods of performing the cerclage, and ultimately decided on the robotic-assisted (Da Vinci Xi) prophylactic abdominal cerclage. INTERVENTIONS: The bicornuate uterus is a rare class IV mullerian duct anomaly caused by the impaired fusion of the mullerian ducts in the uterus, classically appearing in imaging studies as a heart-shaped uterus. This patient demographic reports a high incidence of obstetric complications. Pregnancy in such a uterus causes complications like first- and second-trimester pregnancy loss, preterm labor, low-birthweight infants, and malpresentation at delivery.1 Researchers have postulated that there is an abnormal ratio of muscle fibers to connective tissue in a congenitally abnormal cervix. During pregnancy, an inadequate uterine volume may lead to increased intrauterine pressure and stress on the lower uterine segment, which can lead to cervical incompetence.2 To address cervical incompetence, cervical cerclages are a commonly utilized procedure, as recent studies demonstrate that the incidence of term pregnancies in the group with documented cervical incompetence treated with cerclage placement increased from 26% to 63%.3 One observational study noted improved obstetrical outcomes occurred with interval placement, a cerclage placed in between pregnancies in the nongravid uterus, compared with cerclage placement between 9 and 10 weeks gestation, with the mean gestational age for delivery at 32.9 weeks and 34.5 weeks when a cerclage was placed in gravid and nongravid women, respectively.4 In addition, another retrospective study was done, which demonstrated a lower incidence of neonatal death with prophylactic cerclages.5 Operating on a nonpregnant uterus offers several benefits, including its reduced size, fewer and smaller blood vessels, and simplified handling. Moreover, there are clearly no concerns regarding the fetus. In the decision to use a robotic-assisted platform vs. laparoscopic, a systematic review showed the rates of third-trimester delivery and live birth (LB) using laparoscopy during pregnancy were found to be 70% and 70%-100%, respectively. The same review demonstrated slightly improved outcomes via the robotic route regarding gestational age at delivery (median, 37 weeks), rates of LB (90%), and third-trimester delivery (90%).6 Additional factors contributing to the preference for robotics in surgical procedures include incorporating advanced tools, which can enhance the robotic system's advantages compared with traditional laparoscopy. An invaluable tool in this context is the simultaneous utilization of Firefly mode, which employs a near-infrared camera system, achieved through injecting indocyanine green dye or integrating other light sources concurrently. The intravenous administration of indocyanine green is acknowledged widely for its safety and efficacy as a contrast agent in the evaluation of microvascular circulation and organ vascularization. This property equips surgeons with heightened precision when guiding the needle, proving especially advantageous when faced with challenges in visualizing vascular anatomy. In our specific case, we harnessed the capabilities of Firefly mode in conjunction with hysteroscopic light, enabling us to vividly illustrate the contours of a bicornuate uterus from both external and internal perspectives. We demonstrate a simplified technique of the abdominal cerclage, one cerclage around the internal cervical os of the uterus, using a robotic-assisted platform in a nongravid patient. The surgery began with the eversion of the umbilicus, and a 15-mm skin incision was made in the umbilicus. A Gelpoint mini advanced access site laparoscopy device was inserted into the incision, and CO2 was allowed to insufflate the abdominal cavity with careful attention given to intraabdominal pressure. Once the DaVinci was docked, the surgeon began the creation of a bladder flap. The bladder was carefully dissected from the lower uterine segment and both uteri using monopolar scissors. The anatomical differences of a bicornuate uterus prompted the surgeon to dissect a wider circumference for safety reasons, where a wider dissection offers a better view of the uterine vessels and ease of introducing the Mersilene tape later on. Bilateral uterine vessels were further skeletonized and exposed anteriorly using blunt dissection and monopolar scissors. After further dissection and lateralization, the final result creates a landmark medial to the right uterine vessels at the level of the internal cervical os with which the needle of the Mersilene tape will be able to pass through. The Mersilene tape was guided from anterior to posterior via a previously straightened needle. Similarly, a landmark was created on the left, and the Mersilene tape was directed from anterior to posterior. The Mersilene tape was placed circumferentially around the internal cervical os of the bicornuate uterus, medial to the uterine vessels. Both ends of the Mersilene tape were then gently pulled, ensuring that the tape was lying flat on the anterior of the internal cervical os with no bowels or uterine vessels within it. The tape was then tied posteriorly at the 6 o'clock position with appropriate tension. A 2-0 silk was then sutured to the tails of the tape using the purse-string technique to ensure that it would remain securely tied and in the correct position. Hemostasis was assured. Both a hysteroscopy and a cystoscopy were done after the completion of the cerclage to ensure that no tape or sutures were seen within the cervical canal or the uterine cavity. None were observed. MAIN OUTCOMES MEASURES: The success criteria for the surgery were identified as the patient's ability to attain a viable pregnancy after the cerclage placement, along with achieving LB. RESULTS: Subsequently, a spontaneous pregnancy was achieved. An infant weighing 3 pounds and 16 ounces was delivered by cesarean section at 36 weeks because of an oligohydramnios. The infant is currently healthy at 13 pounds. CONCLUSION: Robotic-assisted abdominal cerclage around the internal cervical os in a bicornuate uterus offers a possibly feasible and straightforward technique for surgeons seeking to reduce risks, although further research is needed.

Three-dimensional transvaginal ultrasound diagnosis of interstitial ectopic pregnancy in a unicornuate uterus: A case report.

A rare case of unicornuate uterus with interstitial ectopic pregnancy was diagnosed using three-dimensional transvaginal ultrasound (3D-TVUS). The ultrasound revealed a "lancet-shaped" endometrial corona, a gestational sac near the uterus base extending toward the uterine serosa, and visible interstitial lines. The patient underwent laparoscopic surgery for a lesion in the right fallopian tube. 3D-TVUS was crucial in precisely locating the gestational sac, aiding in effective treatment. Interstitial ectopic pregnancies risk severe hemorrhaging upon rupture. Rapid, accurate diagnosis is vital for lifesaving treatment and preventing critical complications.

Successful pneumovaginoscopic surgery for recurrent abscess of OHVIRA syndrome, preventing further recurrence and subsequent pregnancy.

INTRODUCTION: OHVIRA syndrome is a rare congenital anomaly of Müllerian duct development characterized by uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. The primary treatment is surgical excision of the obstructed hemivaginal septum and hematometrial drainage. In recent years, minimally invasive approaches such as hysteroscopic or vaginoscopic septum resection have been reported. Furthermore, we originally developed some novel pneumovaginoscopic gynecologic surgeries for years using a device that consists of a cylinder that fits into the vagina and a lid that mounts multiple ports, allowing the vagina to be dilated with carbon dioxide gas, similar to a single-port laparoscope. MATERIALS AND SURGICAL TECHNIQUE: We report a successful pneumovaginoscopic surgery for a complicated recurrent abscess in a patient with OHVIRA syndrome. Conventional surgery was performed with a single forceps in a liquid, as in cystoscopy or hysteroscopy. However, this new surgery allowed multiple forceps in a gas, as in laparoscopy. So pus and blood were aspirated and washed away without leaking into the abdominal cavity via fallopian tubes. The surgical smoke generated by thermal coagulation also aspirated to clean the field of vision immediately. And thick, complicated abscesses were drained successfully. The patient conceived through IVF with ICSI and delivered safely at full term. DISCUSSION: Pneumovaginoscopy could benefit complex vaginal surgery cases, such as abscess formation in patients with OHVIRA syndrome.

Müllerian Anomalies: Presentation, Diagnosis, and Counseling.

Müllerian anomalies represent a complex collection of developmental defects occurring in up to 5% of the general population. They are increasingly more common in individuals with infertility (8.0%) and in those with a history of pregnancy loss (13.3%); they have the highest prevalence in individuals with a history of both (24.5%). A wide spectrum of anomalies can occur based on the stage at which müllerian development ceases in utero, ranging from mild (eg, a partial uterine septum) to severe, with complete absence of the cervix, uterus, and fallopian tubes (eg, müllerian agenesis). The components of the reproductive tract involved and, importantly, whether an obstruction of the tract is involved correlates with the timing of presentation, the constellation of associated symptoms, and the necessity for either medical or surgical management. Individuals, regardless of the severity of the defect, should be counseled on the gynecologic, reproductive, and obstetric risks associated with their specific müllerian anomaly to minimize adverse sequela and outcomes. We will review the clinical presentation, diagnostic evaluation, and clinical counseling of individuals with müllerian anomalies.

Hydrometrocolpos: a Contemporary Review of the Last 5 Years.

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

Incidence of genitourinary anomalies in congenital scoliosis: systematic review and meta-analysis.

PURPOSE: The main objective of this study was to assess the overall incidence of genitourinary anomalies in patients with congenital scoliosis by providing the highest level of evidence. The secondary objective was to look for associations and trends influencing the incidence. METHODS: A meta-analysis using PubMed, Embase, Scopus, and the Cochrane Collaboration Library database was carried out. We included studies focusing on patients with congenital scoliosis and genitourinary anomalies. The main outcome was the incidence of genitourinary anomalies in congenital scoliosis. We also collected the following data: patient gender, type of deformity (formation, segmentation, or mixed), deformity location, and associated anomalies. We included cohort studies. Data was extracted from published reports and combined using Review Manager 5.4. The quality of the included studies was assessed independently by two authors using the Methodological Index for Non-Randomized Studies (MINORS) criteria. RESULTS: A total of eight cohort studies were included from a pool of 2781 patients. The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91% (95% CI 13.39-32.43%). The incidence of surgically treated genitourinary anomalies was 13.92% (95% CI 4.54-23.31%). There were no differences related to gender (male 49.3% versus female 50.7%; p > 0.05). There were no differences regarding the type of deformity. The incidences of associated intraspinal, cardiac, musculoskeletal and craniofacial anomalies were 33.30%, 17.60%, 27.77% and 19.83% respectively. The most frequent genitourinary anomalies were: unilateral kidney (111/388); renal ectopia (50/367); obstructive uropathy (30/201), horseshoe kidney (30/313) and undescended testicle (16/180). CONCLUSIONS: The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91%, and 13.92% were surgically treated. Unilateral kidney was the most common genitourinary abnormality. There were no differences between genders and deformity types. It is important to consider the association between genitourinary anomalies and intraspinal or musculoskeletal anomalies.

Prenatal Rupture of Hydrocolpos in a Cloacal Malformation.

INTRODUCTION: Cloacal dysgenesis occurs from failure of embryological division of urogenital sinus and hindgut, leading to a single common perineal opening for genitourinary and gastrointestinal tracts. The prenatal diagnosis of cloacal malformation is imprecise, but the clinical correlation of postnatal findings to prenatal history can help reveal explanations for unusual pathological findings in patients with urogenital abnormalities. CASE PRESENTATION: A 21-year-old woman was referred after her 20-week ultrasound demonstrated anhydramnios and concern for dilated fetal bowel. Fetal MRI confirmed anhydramnios and a dilated fetal colon, in addition to hydronephrosis and a pelvic cyst. Repeat ultrasound at 27 weeks showed unexpected complete resolution of her anhydramnios but new fetal ascites. The newborn girl was postnatally diagnosed with a cloacal malformation and an unusual near-complete fusion of her labia. She underwent proximal sigmoid colostomy and a tube vaginostomy at birth followed by cloacal reconstruction at 1.5 years old. CONCLUSION: In female fetus with a pelvic cyst, one should have a high index of suspicion for cloacal anomaly and consider the possibility of urinary obstruction leading to alteration in amniotic fluid.

Congenital anomalies of the kidney and urinary tract: defining risk factors of disease progression and determinants of outcomes.

Congenital anomalies of the kidney and urinary tract (CAKUT) result from disruptions in normal kidney and urinary tract development during fetal life and collectively represent the most common cause of kidney failure in children worldwide. The antenatal determinants of CAKUT are diverse and include mutations in genes responsible for normal nephrogenesis, alterations in maternal and fetal environments, and obstruction within the normal developing urinary tract. The resultant clinical phenotypes are complex and depend on the timing of the insult, the penetrance of underlying gene mutations, and the severity and timing of obstruction related to the sequence of normal kidney development. Consequently, there is a broad spectrum of outcomes for children born with CAKUT. In this review, we explore the most common forms of CAKUT and those most likely to develop long-term complications of their associated kidney malformations. We discuss the relevant outcomes for the different forms of CAKUT and what is known about clinical characteristics across the CAKUT spectrum that are risk factors of long-term kidney injury and disease progression.

Dienogest Use for Recurrent Pyosalpinx as a Long-Term Complication of Cloacal Exstrophy: A Case Report.

BACKGROUND: Cloacal exstrophy (CE) is a rare congenital disease that requires multiple surgeries for complex gastrointestinal and genitourinary anomalies. Long-term complications are not uncommon; however, they are poorly reported. Pyosalpinx is sometimes encountered during CE management in adolescents and young adults. CASE: A 28-year-old woman with a history of CE presented with fever, lower abdominal pain, and vomiting and was diagnosed with left pyosalpinx. Computed tomography-guided drainage and intravenous antibiotic administration were successful; however, she had 2 readmissions for recurrent pyosalpinx 1 week after discharge and again 4 months later. She was administered Dienogest, a synthetic progestin, to prevent recurrent pyosalpinx and had no recurrence for 8 months. SUMMARY AND CONCLUSION: Dienogest is a conservative treatment choice for preventing the recurrence of pyosalpinx for patients with CE.

Vaginal bleeding in a newborn as initial presentation of uterus didelphys.

Vaginal bleeding of the newborn is described as a normal phenomenon, occurring physiologically in a subset of baby girls as a response to decreased oestrogen levels in the postnatal period compared with in utero exposure. Here, we present the case of heavy vaginal bleeding prompting an evaluation via transabdominal ultrasound, which was ultimately diagnostic for uterus didelphys. We suggest that neonates with uterus didelphys are predisposed to heavy bleeding due to relatively larger amount of the endometrial tissue in two cavities. While diagnosis of Müllerian anomalies is typically made in adulthood, an earlier diagnosis facilitates timely medical and surgical intervention and prompts screening for concurrent and associated conditions. In summary, we recommend routine consideration of transabdominal ultrasound to investigate abnormal vaginal bleeding in the newborn.

Urogenital Sinus Diagnosed During Workup of Recurrent Urinary Tract Infections: A Case Report.

Urogenital sinus (UGS) is a rare anomaly characterized by a common cavity involving the reproductive and urinary tracts. We describe a patient with VACTERL syndrome who presented for urologic care at 11 years of age due to supposed "recurrent urinary tract infections" and was subsequently found to have UGS in which the vagina connected directly to the bladder. She underwent robotic UGS mobilization to disconnect the vagina from the bladder and vaginoplasty to mature the vagina to the perineum. The objective of this report is to describe the presentation, diagnosis, and management of a patient with rare high confluence UGS.

Kidney transplant access for children and young adults with congenital anomalies of the kidney and urinary tract.

PURPOSE: Although congenital anomalies of the kidney and urinary tract (CAKUT) are among the leading causes of end-stage kidney disease (ESKD) in children and young adults, kidney transplantation access for this population has not been well studied in the US. We compared transplantation access in the US based on whether the etiology of kidney disease was secondary to CAKUT, and additionally by CAKUT subgroups (anatomic vs. inherited causes of CAKUT). METHODS: Using the United States Renal Data System, we conducted a retrospective cohort study of 80,531 children and young adults who started dialysis between 1995 and 2015. We used adjusted Cox models to examine the association between etiology of kidney disease (CAKUT vs. non-CAKUT, anatomic vs. inherited) and receipt of kidney transplantation, and secondarily, receipt of a living vs. deceased donor kidney transplant. RESULTS: Overall, we found an increased likelihood of kidney transplantation access for participants with CAKUT compared to those without CAKUT (HR 1.23; 95% CI 1.20-1.27). Among the subset of individuals with CAKUT as the attributed cause of ESKD, we found a lower likelihood of kidney transplantation in those with anatomic causes of CAKUT compared to those with inherited causes of CAKUT (adjusted HR 0.85; 0.81-0.90). CONCLUSION: There are notable disparities in kidney transplantation rates among CAKUT subgroups. Those with anatomic causes of CAKUT started on dialysis have significantly reduced access to kidney transplantations compared to individuals with inherited causes of CAKUT who were initiated on dialysis. Further studies are needed to understand barriers to transplantation access in this population.