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Background: Individuals with congenital solitary functioning kidney (SFK) are at an increased risk of kidney damage. According to some studies, the risk is higher in unilateral kidney agenesis (UKA) than in unilateral multicystic dysplastic kidney (UMCDK). We hypothesized that with early detection of children with UKA and UMCDK, there would be no difference in the presence of hypertension, proteinuria, and reduced glomerular filtration rate (GFR) between UKA and UMCDK., Methods: Based on a long-term follow-up protocol, we evaluated a cohort of 160 children followed from birth for SFK (84 with UKA and 76 with UMCDK) detected by prenatal or routine neonatal ultrasound screening. Hypertension, proteinuria, and reduced GFR were monitored as markers of kidney damage. We compared the characteristics and outcomes of the subgroups of children with UKA and UMCDK., Results: GFR was reduced in 42 (26.2%) children, of whom 41 showed only mild reduction. Hypertension and proteinuria were found in 22 (13.8%) and 14 (8.8%) children, respectively. Combined kidney damage was present in 57 (35.6%) children. The UMCDK and UKA subgroups differed in GFR at final examination, with UMCDK patients being significantly more likely to have normal GFR compared to UKA patients (82% vs. 67%; p = 0.039)., Conclusions: One third of the children showed signs of SFK damage, albeit mild. Patients with UKA had reduced GFR significantly more often than those with UMCDK, but did not differ in the rates of hyperfiltration injury or congenital anomalies of the kidneys and urinary tract (CAKUT) in SFK., (© 2024. The Author(s).)

The superior lumbar triangle is formed by the erector spinae muscles medially, internal oblique muscles laterally and the 12th rib superiorly. Herniation through this triangle can be congenital or acquired (primary or secondary). The contents of the hernial sac commonly include retroperitoneal fat, kidneys, ascending or descending colon, small intestines, stomach, spleen, etc. We present a case of an infant with congenital herniation of the left kidney through the superior lumbar triangle with an incidentally detected closed spinal tube defect. The anatomy of the lumbar triangle and a literature review of the associated hernia have been briefly described in this article., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

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., (© 2024. The Author(s).)

The research of Mendel, born two centuries ago, still has many direct implications for our everyday clinical work. He introduced the terms "dominant" and "recessive" characters and determined their 3:1 ratio in the offspring of heterozygous "hybrid" plants. This distribution allowed calculation of the number of the phenotype-determining "elements," i.e., the alleles, and has been used ever since to prove the monogenic origin of a disorder. The Mendelian inheritance of monogenic kidney disorders is still of great help in distinguishing them from those with multifactorial origin in clinical practice. Inheritance of most monogenic kidney disorders fits to Mendel's observations: the equal contribution of the two parents and the complete penetrance or the direct correlation between the frequency of the recessive character and the degree of inbreeding. Nevertheless, beyond the truth of these basic concepts, several observations have expanded their genetic characteristics. The extreme genetic heterogeneity, the pleiotropy of the causal genes and the role of modifiers in ciliopathies, the digenic inheritance and parental imprinting in some tubulopathies, and the incomplete penetrance and eventual interallelic interactions in podocytopathies, reflect this expansion. For all these reasons, the transmission pattern in a natural setting may depend not only on the "character" but also on the causal gene and the variant. Mendel's passion for research combined with his modest personality and meticulous approach can still serve as an example in the work required to understand the non-Mendelian universe of genetics., (© 2023. The Author(s).)

Introduction: Registries of congenital anomalies (CAs) play a key role in the epidemiological surveillance of CAs. The objective was to estimate the prevalence of CAs and proportions of prenatal diagnosis, terminations of pregnancy for fetal anomaly (TOPFA) and infant mortality in the Paris Registry of Congenital Malformations (remaPAR) over 40 years, from 1981 to 2020., Material and Methods: remaPAR records all births (live births, stillbirths ≥22 weeks of gestation and TOPFA at any gestational age) with CAs detected prenatally until the early neonatal period. We estimated the prevalence of CAs and proportions of prenatal diagnosis, TOPFA and infant mortality, overall and for a selected group of CAs in 3-year intervals., Results: The prevalence of CAs remained stable during the study period: 2.9 % of total births and 2.1 % of live births. Genetic anomalies were the most frequent subgroup (about 23 %), followed by congenital heart defects (about 22 %) and limb defects (about 20 %). Among non-genetic anomalies, the prevalence per 10,000 births was the highest for hypospadias (about 18 %) and the lowest for bilateral renal agenesis (about 1 %). Prenatal diagnoses increased from about 17 % in the 1980s to approximately 70 % in the most recent period (2018-2020), whereas the proportion of early TOPFA <16 weeks of gestation increased from 0.4 % to 14 %. Infant mortality ranged from 0 % for transverse limb reduction defects to 86 % for hypoplastic left heart syndrome., Conclusion: The overall prevalence of CAs was fairly stable in Paris from 1981 to 2020. Prenatal diagnoses substantially increased, accompanied by much smaller increases in TOPFA., Competing Interests: Declaration of competing interest The authors report no conflict of interest., (Copyright © 2024 Elsevier Masson SAS. All rights reserved.)

Uterus didelphys is a rare Müllerian anomaly, often diagnosed during menarche or in women with a personal history of infertility and/or recurrent pregnancy loss. Its association with other genitourinary anomalies is frequent and may determine the existence of established syndromes. This case report refers to a 13-year-old female patient diagnosed with OHVIRA syndrome (Obstructed Hemivagina with Ipsilateral Renal Agenesis), a condition wherein the presence of a didelphic uterus is associated with hemivagina obstruction and ipsilateral renal agenesis. The patient presented with cyclic pelvic pain, related to the presence of hematocolpos and hematometra, which persisted despite several surgical approaches, including vaginal septum excision and correction of cervical stenosis. The recurrence of the condition indicated exploratory laparotomy, revealing two hemi-uteri and two uterine cervixes, with hematometra on the right. A subtotal hemihysterectomy was performed on the right. Post-procedure, the patient developed with regular menstrual cycles and improvement of pelvic pain complaints. Given the limited prevalence and low index of suspicion, the potential requirement for surgical intervention and its potential impact on reproductive future, diagnosing and treating OHVIRA syndrome and other Müllerian anomalies poses notable challenges in clinical practice. Hence, sharing different therapeutic approaches of a rare diagnosis with the scientific community is of paramount importance to aid in early diagnosis and effective management of similar clinical cases., (© 2023 International Federation of Gynecology and Obstetrics.)

Obstructed Hemi Vagina with Ipsilateral Renal Agenesis (OHVIRA) syndrome is a rarely encountered müllerian duct anomaly. Delayed diagnosis is common due to normal onset of puberty and menstruation. We report a case of a woman in her early 20s with a background history of multiple emergency department visits, ward admissions and surgeries for chronic abdominal pain. She was reviewed at 1 month postlaparotomy for recurrent pelvic abscess and was finally diagnosed to have an OHVIRA syndrome, 11 years after her first clinical presentation. Excision of the vaginal septum completely resolved her symptoms. We are reporting this case to highlight the clinical implications resulting from the delayed diagnosis, to look into factors contributing to the delay and to highlight the importance of having a high index of suspicion to diagnose this unique condition., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management., Case Presentation: The male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation., Discussion and Conclusions: Our findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases., (© 2024. The Author(s).)

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., (Copyright © 2024 SEEN and SED. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction: Fraser syndrome, named after George Fraser, is an autosomal recessive disorder showing a highly variable interfamilial phenotypic variation, with malformations ranging from minor symptoms to lethal anomalies like renal agenesis, incompatible with survival. Limb reduction defects have not been reported to be associated with it., Case Presentation: A 21-year-old primigravida presented to the antenatal outpatient department with a level two targeted anomaly scan report suggestive of severe oligohydramnios with suspected renal agenesis. The cranial vault bones were compressed, and orbital globes and lenses could not be visualized. Renal agenesis was confirmed due to sleeping adrenals sign, non-visualization of the urinary bladder, and Doppler of renal arteries. A detailed examination of the fetal head in the sagittal section showed the absence of an eye globe and lens, arousing suspicion of Fraser syndrome. After pregnancy termination, a complete fetal autopsy was done to look for any additional findings., Conclusion: Patients who have a syndromic mix of acrofacial and urogenital abnormalities with or without cryptophthalmos should be evaluated for Fraser syndrome, which can be diagnosed by clinical examination and perinatal autopsy., (© 2024. The Author(s), under exclusive licence to Springer-Verlag France SAS, part of Springer Nature.)

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., Competing Interests: Conflicts of Interest All authors report no potential conflicts to disclose., (Copyright © 2023. Published by Elsevier Inc.)

Objective: GREB1L has been linked prenatally to Potter's sequence, as well as less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre- and postnatal phenotypes associated with GREB1L., Methods: We solicited cases from the Fetal Sequencing Consortium, screened a population-based genomic database, and conducted a comprehensive literature search to identify disease cases associated with GREB1L. We present a detailed phenotypic spectrum and molecular changes., Results: One hundred twenty-seven individuals with 51 unique pathogenic or likely pathogenic GREB1L variants were identified. 24 (47%) variants were associated with isolated kidney anomalies, 19 (37%) with anomalies of multiple systems, including one case of hypoplastic left heart syndrome, five (10%) with isolated sensorineural hearing loss, two (4%) with isolated uterine agenesis; and one (2%) with isolated tetralogy of Fallot., Conclusion: GREB1L may cause complex congenital heart disease (CHD) in humans. Clinicians should consider GREB1L testing in the setting of CHD, and cardiac screening in the setting of GREB1L variants., (© 2024 John Wiley & Sons Ltd.)

Objective: The goal of this study was to review and analyze the medical literature for cases of prenatal and/or postnatally diagnosed bilateral renal agenesis (BRA) and create a comprehensive summary of the genetic etiologies known to be associated with this condition., Methods: A literature search was conducted as a scoping review employing Online Mendeliain Inheritance in Man, PubMed, and Cochrane to identify cases of BRA with known underlying genetic (chromosomal vs. single gene) etiologies and those described in syndromes without any known genetic etiology. The cases were further categorized as isolated versus non-isolated, describing additional findings reported prenatally, postnatally, and postmortem. Inheritance pattern was also documented when appropriate in addition to the reported timing of diagnosis and sex., Results: We identified six cytogenetic abnormalities and 21 genes responsible for 20 single gene disorders associated with BRA. Five genes have been reported to associate with BRA without other renal anomalies; sixteen others associate with both BRA as well as unilateral renal agenesis. Six clinically recognized syndromes/associations were identified with an unknown underlying genetic etiology. Genetic etiologies of BRA are often phenotypically expressed as other urogenital anomalies as well as complex multi-system syndromes., Conclusion: Multiple genetic etiologies of BRA have been described, including cytogenetic abnormalities and monogenic syndromes. The current era of the utilization of exome and genome-wide sequencing is likely to significantly expand our understanding of the underlying genetic architecture of BRA., (© 2024 John Wiley & Sons Ltd.)

Objective: Recurrent deletions involving 17q12 are associated with a variety of clinical phenotypes, including congenital abnormalities of the kidney and urinary tract (CAKUT), maturity onset diabetes of the young, type 5, and neurodevelopmental disorders. Structural and/or functional renal disease is the most common phenotypic feature, although the prenatal renal phenotypes and the postnatal correlates have not been well characterized., Method: We reviewed pre- and postnatal medical records of 26 cases with prenatally or postnatally identified 17q12/HNF1B microdeletions (by chromosomal microarray or targeted gene sequencing), obtained through a multicenter collaboration. We specifically evaluated 17 of these cases (65%) with reported prenatal renal ultrasound findings., Results: Heterogeneous prenatal renal phenotypes were noted, most commonly renal cysts (41%, n = 7/17) and echogenic kidneys (41%), although nonspecific dysplasia, enlarged kidneys, hydronephrosis, pelvic kidney with hydroureter, and lower urinary tract obstruction were also reported. Postnatally, most individuals developed renal cysts (73%, 11/15 live births), and there were no cases of end-stage renal disease during childhood or the follow-up period., Conclusion: Our findings demonstrate that copy number variant analysis to assess for 17q12 microdeletion should be considered for a variety of prenatally detected renal anomalies. It is important to distinguish 17q12 microdeletion from other etiologies of CAKUT as the prognosis for renal function and presence of associated findings are distinct and may influence pregnancy and postnatal management., (© 2023 John Wiley & Sons Ltd.)

Background: As a result of the failure of embryogenic kidney formation, a condition can occur where not a single kidney appears and this phenomenon is known as unilateral renal agenesis (URA). Both aplastic and dysplastic kidney are different from renal agenesis, atrophy and renal hypoplasia. However, from this case report it can be seen that there are similarities, both radiologically and macroscopically, between cases of unilateral renal aplasia and renal agenesis., Case Presentation: A 2 year old Javanese boy came to the health facility with complaints of recurrent fever and urinary tract symptoms such as dysuria and straining. Computerized Tomography (CT) scan of the abdomen and urography showed agenesis of the left kidney and a probable spina bifida. Cystourethrography examination was done and showed grade 5 voiding, then retrograde pyelography was performed with the diagnosis of unilateral renal agenesis was made because there was no visible left side collecting system even though there was a duplication in the left ureter. The next examination was carried out by histopathology and immunohistochemistry after resection of the left side of the ureter and the diagnosis increasingly pointed towards renal aplasia after primitive renal structures were found., Conclusions: Renal agenesis and aplastic kidney are difficult to differentiate macroscopically and radiologically. Nevertheless, from this case report, we try to provide some interesting points to differentiate cases of unilateral renal agenesis from Renal Dysplasia which presents as unilateral renal aplasia., (© 2024. The Author(s).)

Competing Interests: Competing interests: None declared.

Infants with congenital bilateral renal agenesis are at significant risk for morbidity and mortality, despite substantial and continuing advances in fetal and neonatal therapeutics. Infants with bilateral renal agenesis may episodically develop severe hypotension that can be refractory to traditional vasopressors. Synthetic angiotensin-II has been successfully used in adult and a few pediatric patients with refractory hypotension but has not been extensively studied in infants. We describe the use of angiotensin-II in treating refractory hypotension in a premature infant with congenital bilateral renal agenesis admitted to the NICU. Within 48 hours, he no longer required other vasopressors. Subsequently, angiotensin-II was gradually weaned and discontinued over 10 days and the patient was ultimately discharged from the hospital. This case demonstrates that angiotensin-II may be a helpful agent to treat refractory hypotension in infants with bilateral renal agenesis., (Copyright © 2024 by the American Academy of Pediatrics.)

Importance: Early anhydramnios during pregnancy, resulting from fetal bilateral renal agenesis, causes lethal pulmonary hypoplasia in neonates. Restoring amniotic fluid via serial amnioinfusions may promote lung development, enabling survival., Objective: To assess neonatal outcomes of serial amnioinfusions initiated before 26 weeks' gestation to mitigate lethal pulmonary hypoplasia., Design, Setting, and Participants: Prospective, nonrandomized clinical trial conducted at 9 US fetal therapy centers between December 2018 and July 2022. Outcomes are reported for 21 maternal-fetal pairs with confirmed anhydramnios due to isolated fetal bilateral renal agenesis without other identified congenital anomalies., Exposure: Enrolled participants initiated ultrasound-guided percutaneous amnioinfusions of isotonic fluid before 26 weeks' gestation, with frequency of infusions individualized to maintain normal amniotic fluid levels for gestational age., Main Outcomes and Measures: The primary end point was postnatal infant survival to 14 days of life or longer with dialysis access placement., Results: The trial was stopped early based on an interim analysis of 18 maternal-fetal pairs given concern about neonatal morbidity and mortality beyond the primary end point despite demonstration of the efficacy of the intervention. There were 17 live births (94%), with a median gestational age at delivery of 32 weeks, 4 days (IQR, 32-34 weeks). All participants delivered prior to 37 weeks' gestation. The primary outcome was achieved in 14 (82%) of 17 live-born infants (95% CI, 44%-99%). Factors associated with survival to the primary outcome included a higher number of amnioinfusions (P = .01), gestational age greater than 32 weeks (P = .005), and higher birth weight (P = .03). Only 6 (35%) of the 17 neonates born alive survived to hospital discharge while receiving peritoneal dialysis at a median age of 24 weeks of life (range, 12-32 weeks)., Conclusions and Relevance: Serial amnioinfusions mitigated lethal pulmonary hypoplasia but were associated with preterm delivery. The lower rate of survival to discharge highlights the additional mortality burden independent of lung function. Additional long-term data are needed to fully characterize the outcomes in surviving neonates and assess the morbidity and mortality burden., Trial Registration: ClinicalTrials.gov Identifier: NCT03101891.

BACKGROUND Solitary fibrous tumors (SFT), rare soft-tissue neoplasms, are usually found in the thoracic cavity, and a uterine origin is extremely rare. SFTs with insulin-like growth factor-II (IGF-II) production induce non-islet cell tumor-induced hypoglycemia (NICTH), referred to as Doege-Potter syndrome. CASE REPORT A 70-year-old woman presented with urinary retention, and imaging revealed a huge mass occupying almost the entire pelvic space. She had a history of hysterectomy for leiomyoma of the uterus 7 years earlier. In her present course, she developed hypoglycemia, and NICTH was suspected. Her previous uterine specimen was reexamined, and immunohistochemistry (IHC) revealed the specimen to be CD34-positive and alpha-smooth muscle actin-negative, indicating that the uterine specimen was not leiomyoma but SFT. Therefore, the present pelvic tumor was considered to be a recurrence of SFT with NICTH, namely Doege-Potter syndrome. Surgical resection was performed, and the pathological examination showed the same histologic features as the previous uterine specimen, while IHC revealed the present specimen to be positive for CD34, signal transducers and activator of transcription 6, and IGF-II, consistent with the diagnosis of recurrent SFT with IGF-II production. The patient's hypoglycemia improved after tumor resection. To confirm the IGF-II secretion from the SFT, we conducted immunoblotting of the patient's perioperative serum, with results showing that the strong band of IGF-II in the preoperative serum disappeared after surgery. CONCLUSIONS Because SFTs, especially those with Doege-Potter syndrome, often recur, sometimes with a very long interval, long-term cautious surveillance is required, even after complete tumor resection.

Objective: To evaluate the agreement and disagreement between prenatal ultrasound and fetal autopsy findings in pregnancy terminations due to urogenital anomalies., Methods: Of 453 pregnancy terminations performed due to fetal anomalies, 82 cases with urogenital anomalies on either prenatal ultrasound or fetal autopsy were included in this retrospective study. The discrepancy between prenatal ultrasound and fetal autopsy findings on urogenital anomaly findings was evaluated., Results: Complete agreement between prenatal ultrasound and fetal autopsy findings was noted in 33 (40.2%) cases (particularly for megacystis, bilateral renal agenesis, and infantile polycystic kidney), whereas partial agreement (anal atresia and horseshoe kidney as additional minor findings) and altered diagnosis were noted in 12 (14.6%) and 8 (9.8%) cases, respectively. Disagreement was noted in 29 (35.4%) cases including anomaly only on autopsy in 20 (24.3%) cases (renal agenesis, horseshoe kidney and multicystic dysplastic kidney in particular) and anomaly only on ultrasound in 9 (10.9%) cases., Conclusions: Accordingly, our findings indicate fetal autopsy to be a method of vital importance in complementing prenatal diagnosis; it may add valuable information that may improve future pregnancy management and counseling of parents, and hence prenatal ultrasound and fetal autopsy should be regarded as complementary techniques., (© 2021 The Authors. International Journal of Gynecology & Obstetrics published by John Wiley & Sons Ltd on behalf of International Federation of Gynecology and Obstetrics.)

Objective We evaluated if there were more adverse gestational outcomes of pregnant women with unilateral congenital renal agenesis (UCRA). Study design: This single center retrospective case-control study compared maternal complications and neonatal outcomes from 25 women with UCRA to the outcomes of 125 women with two kidneys. Results: UCRA women had lower gestational weeks at birth and higher rates of preterm delivery ( p  = 0.004 and <0.001; respectively). Mothers had higher rates of preeclampsia and newborns with congenital anomalies and neonatal intensive care unit (NICU) admission ( p  = 0.009, 0.042, and 0.039; respectively). Unadjusted odds ratios were significantly higher for preterm delivery and for any APGAR score of <7 at the first 10 min and preeclampsia [OR (95% CI):13.5 (4.66-39.05), 31 (3.44-279.32) and 5.76 (1.33-24.84), respectively]. Conclusion: Maternal UCRA is a risk factor for less optimal obstetric and neonatal outcomes.

Background: One of the least common forms of Müllerian anomalies is Herlyn-Werner-Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemi-vagina, and ipsilateral renal agenesis (OHVIRA). HWWS is also known as OHVIRA syndrome. Patients with OHVIRA syndrome generally present with increasing pelvic pain, dysmenorrhoea, and pelvic mass during puberty, shortly after menarche. These patients may be treated successfully with a minimally invasive method., Case Report: We present three previously asymptomatic patients with OHVIRA syndrome who presented with acute abdomen shortly after menarche. These patients were treated with a minimally invasive method., Conclusion: Patients with OHVIRA syndrome may be treated with minimally invasive method after definitive diagnosis and, laparoscopy and laparotomy should be avoided as much as possible. Minimally invasive treatment modality is not only cost-effective, but also provides symptomatic relief and preserves fertility.

Study Objective: To show a conservative surgical treatment for a female adolescent affected by Wunderlich syndrome with didelphys uterus and obstructed hemivagina., Design: Stepwise demonstration of the technique with narrated video footage., Setting: In the context of obstructive congenital müllerian anomalies, involving a stagnation of menstrual blood, the Wunderlich syndrome is the most common and constantly characterized by the duplicity of the uterine body, by the presence of an imperforate hemivagina, and by renal agenesis ipsilateral to the obstructed hemivagina. The imperforate hemivagina leads to dysmenorrhea and abdominal pain, owing to the hematocolpos and the hematometra, which arose immediately after the menarche. This is the case of a 14-year-old female adolescent affected by Wunderlich syndrome referred to the San Raffaele Hospital adolescent center (Milan, Italy) for dysmenorrhea and abdominal pain. At vaginal exploration, a right imperforated hemivagina and hematocolpos were highlighted. A diagnostic magnetic resonance imaging (MRI) found the duplicity of the uterine body, the hematometra, and the right renal agenesis., Interventions: A combination of explorative laparoscopy and surgical vaginal time leads to the excision of the vaginal septum that allows the drainage of the hematocolpos and of the hematometra. Three surgical steps are described: 1. First laparoscopic step: exploration of the abdominal cavity with the detection of a double uterine body, an enlarged hemiuterus, and an enlarged hemivagina caused by the hematometra and the hematocolpos. Careful evaluation of adnexa for eventual presence of hematosalpinx. 2. Vaginal step divided into the following: (A) puncture of the vaginal tumescence (corresponding to the imperforated hemivagina) with a 19-gauge needle mounted on a syringe. Aspiration results in thick creamy black material (old menstrual blood). (B) In correspondence with the needle puncture, a full-thickness incision of the vaginal wall widely opening the second uterine cervix and (C) stabilization of the opening by the marsupialization of the edge of the obstructed hemivagina were performed. 3. Second laparoscopic step: having emptied the hematocolpos of the left hemiuterus, the didelphys uterus and the disappearance of the hematocolpos can be clearly seen., Conclusion: Here, we demonstrate a conservative surgical approach for the treatment of Wunderlich syndrome. This rare malformation is characterized by an extreme variability of the anatomic presentation, and the precise identification of the variety together with the early diagnosis is of fundamental importance for the surgical correction., (Copyright © 2022 AAGL. Published by Elsevier Inc. All rights reserved.)

Doege Potter syndrome is a rare condition causing non-islet cell paraneoplastic hypoglycaemia associated with fibrous tumours, which can be both benign and malignant. The vast majority are solitary and located within the chest. Non-islet cell tumour-induced hypoglycaemia, as in Doege Potter syndrome, is quite rare and occurs around 4 times less often than islet cell-associated paraneoplastic hypoglycaemia. We present a case of Doege Potter syndrome with severe hypoglycaemia in conjunction with multiple recurrent fibrous tumours of the lung and pleura., (© The Author(s) 2022. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery.)

Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of abnormalities affecting morphogenesis of the kidneys and other structures of the urinary tract. Bilateral renal agenesis (BRA) is the most severe presentation of CAKUT. Loss of either nephronectin (NPNT) or its receptor ITGA8 leads to failure of metanephric kidney development with resulting renal agenesis in murine models. Very recently, a single family with renal agenesis and a homozygous truncating variant in NPNT was reported. We report two families in whom genome-wide linkage analysis showed an autozygous locus linked to BRA (at least one member has unilateral renal agenesis) at 4q24, with an LOD score of ~3. Exome sequencing detected a nonsense variant in NPNT in both families within the linkage interval. The pathogenicity of this variant was supported by reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Our report confirms the candidacy of NPNT in renal agenesis in humans and shows that even complete loss of function can be compatible with the formation of a single kidney., (© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Obstructed hemivagina with ipsilateral renal anomaly (OHVIRA) is a rare congenital genitourinary defect with a triad of unilateral vaginal obstruction, uterine anomaly and ipsilateral renal agenesis. This paper reports an unusual presentation of OHVIRA, with our patient experiencing severe abdominal pain from a left tubo-ovarian abscess that is contralateral to the side of the vaginal outflow obstruction. Another reportable finding is our patient's rare association of a trifid ureter that fuses distally before inserting ectopically in her vaginal canal. Lastly, this case report also emphasises the importance of radiologists' expertise in suspecting the diagnosis early on and in contributing to the preoperative evaluation of patients with OHVIRA, thereby providing adequate management for these patients., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

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

Congenital anomalies of the superior and inferior vena cava result from abnormal embryogenesis of cardinal veins. Duplication of superior vena cava (SVC) occurs in 0.3% of the general population of which only 8% drain into the left atrium. The prevalence of double inferior vena cava (IVC) is around 0.2-3%. The reported incidence of unilateral renal agenesis ranges from 1:1100 to 1:5000, and the association of double IVC with renal agenesis has been reported in only 11 cases in the literature. The conglomeration of such rare anomalies incidentally noted in a single patient is reported in this study. A 32-year-old man was referred to our department for Computed Tomography (CT) scan of the thorax. The patient was found to have dorsal kyphoscoliosis with hemivertebrae. The SVC was duplicated with the right SVC draining into the right atrium and the left SVC draining into the left atrium. The left kidney was not visualized in the abdomen. There was dual IVC with no intercommunicating interiliac vein. The right IVC maintained its normal course, while the left IVC continued as hemiazygos vein and joined left SVC in the thorax. Also noted was the aberrant origin of the right subclavian artery. This is the first reported case of combined superior and inferior vena caval anomalies along with left renal agenesis in a single patient in the literature. A review on the embryological basis is also described in this article.

We report the screening of a large panel of genes in a series of 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified in 22% of cases, greatly improving genetic counseling. The percentage of variants explaining the phenotype was different according to the type of phenotype. The highest diagnostic yield was found in cases affected with the ciliopathy-like phenotype (11/15 families and, in addition, a single heterozygous or a homozygous Class 3 variant in PKHD1 in three unrelated cases with autosomal recessive polycystic kidney disease). The lowest diagnostic yield was observed in cases with congenital anomalies of the kidney and urinary tract (9/78 families and, in addition, Class 3 variants in GREB1L in three unrelated cases with bilateral renal agenesis). Inheritance was autosomal recessive in nine genes (PKHD1, NPHP3, CEP290, TMEM67, DNAJB11, FRAS1, ACE, AGT, and AGTR1), and autosomal dominant in six genes (PKD1, PKD2, PAX2, EYA1, BICC1, and MYOCD). Finally, we developed an original approach of next-generation sequencing targeted RNA sequencing using the custom capture panel used for the sequencing of DNA, to validate one MYOCD heterozygous splicing variant identified in two male siblings with megabladder and inherited from their healthy mother., (© 2022 Wiley Periodicals LLC.)

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., (© 2021 International Society of Ultrasound in Obstetrics and Gynecology.)

Competing Interests: Competing interests: None declared.

Introduction: Solitary fibrous tumor of the pleura (SFTP) is a rare neoplasm that accounts for less than 5% of all pleural tumors. We present the case of a 73-year-old man with a history of recurrent episodes of severe hypoglycemia secondary to a large malignant SFTP. This paraneoplastic manifestation of SFTP occurs in less than 5% of cases and is referred to as Doege-Potter syndrome. Although rare, this is an important and reversible cause of hypoglycemia, which is resolved by complete surgical resection of the tumor. We describe the pathogenesis, diagnosis, and treatment of Doege-Potter syndrome. Key imaging findings and pathologic correlation are shown.

Bilateral renal agenesis belongs to a group of perinatal lethal renal diseases. To date, pathogenic variants in three genes (ITGA8, GREB1L, and FGF20) have been shown to cause renal agenesis in humans. Recently GFRA1 has been linked to a phenotype consistent with a nonsyndromic form of bilateral renal agenesis. GFRA1 encodes a member of the glial cell line-derived neurotrophic factor receptor family of proteins. The receptor on the Wolffian duct regulates ureteric bud outgrowth in developing a functional renal system. We report on four additional affected neonates from a consanguineous family who presented with a similar lethal phenotype whereby whole exome sequencing identified a homozygous deleterious sequence variant in GFRA1 (NM&#95;005264.8:c.628G > T:p.[Gly210Ter]). The current study represents a second confirmation report on the causal association of GFRA1 pathogenic variants with lethal nonsyndromic bilateral renal agenesis in humans., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

Objective: We present a case report of a congenital malformation of the uropoetic tract in one of the monoamniotic twins., Case Report: A 24-year-old primigravida with male monochorionic monoamniotic twins was dia-gnosed with congenital malformation in fetus A at 24 weeks of gestation. Ultrasound verified macrocystic dysplasia and contralateral renal agenesis. Planned caesarean section was performed after the observational management of the patient in the 34th gestational week. In fetus B, a physiological finding was confirmed on the postpartum ultrasonography. In fetus A, CT examination of the abdomen confirmed the finding of left kidney agenesis and polycystic degeneration of the right kidney. Exitus letalis was stated on the newborns 5th day., Conclusion: The occurrence of the described combination of congenital malformation in monoamniotic twins is rare. When dysplasia significantly affects the function of the parenchyma, renal agenesis with multicystic dysplasia of the other kidney is a condition incompatible with life. For the intrauterine survival of the affected fetus, the normal renal function of the twin was important and thus the normal volume of amniotic fluid was maintained. As a result, the fetus did not develop extrarenal symptoms of the Potter sequence in the described case - especially pulmonary hypoplasia and the newborn was able to ventilate spontaneously. The death was caused by the consequences of renal failure associated with anuria.

Objective: To explore the genetic causes of Herlyn-Werner-Wunderlich syndrome (HWWS) using whole-exome sequencing., Design: Retrospective genetic study., Setting: Academic medical center., Patient(s): Twelve patients with HWWS., Intervention(s): Whole-exome sequencing was performed for each patient. Sanger sequencing was used to confirm the potential causative genetic variants. In silico analysis and American College of Medical Genetics and Genomics guidelines were used to classify the pathogenicity of each variant., Main Outcome Measure(s): Rare sequence variants associated with müllerian duct development and renal agenesis were identified and included in subsequent analyses., Result(s): A total of 11 variants were identified in 10 of 12 patients (83.3%) and were considered to constitute a molecular genetic diagnosis of HWWS. These 11 variants were related to 9 genes: CHD1L, TRIM32, TGFBR3, WNT4, RET, FRAS1, FAT1, FOXF1, and PCSK5. All variants were heterozygous and confirmed by Sanger sequencing. The changes included one frameshift variant, one splice-site variant, and eight missense variants. All of the identified variants were absent or rare in Genome Aggregation Database East Asian populations. One of the 11 variants (9.1%) was classified as a pathogenic variant according to the American College of Medical Genetics and Genomics guidelines, and 8 of the 11 variants (72.7%) were classified as variants of uncertain significance., Conclusion(s): To our knowledge, this is the first report of the genetic causes of HWWS. Renal agenesis-related genes, such as CHD1L, TRIM32, RET, and WNT4, may be associated with HWWS. Identification of these variants can not only help us understand the etiology of HWWS and the relationship between reproductive tract development and urinary system development, but additionally improve the level of genetic counseling for HWWS., (Copyright © 2021 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Background: Multicystic dysplastic kidney (MCDK) disease and unilateral renal agenesis (URA) are well-known causes of a solitary functioning kidney (SFK) and are associated with long-term kidney injury. The aims of this study were to characterize the natural history of SFK at our center, define the risk factors associated with chronic kidney injury, and identify distinguishing features between URA and MCDK that predict outcome., Methods: This was a retrospective cohort study of 230 SFK patients. We compared MCDK (n=160) and URA (n=70) according to clinical features at diagnosis and kidney outcomes over follow-up. Univariate and multivariate binary regression analysis was used to determine independent risk factors for chronic kidney injury, defined as the composite outcome of hypertension, proteinuria, or chronic kidney disease (eGFR <60 mL/min/1.73m 2 )., Results: URA had a higher prevalence of comorbid genetic syndromes (15 vs. 6%, p=0.04), non-renal anomalies (39 vs. 11%, p<0.001), and congenital anomalies of the kidney and urinary tract (CAKUT) (51 vs. 26%, p<0.001) than MCDK. Over follow-up, URA experienced more hypertension (19 vs. 3%, p=0.002), proteinuria (12 vs. 3%, p=0.03), and the composite outcome (19 vs. 6%, p=0.003) than MCDK. Independent risk factors for chronic kidney injury included CAKUT (OR 5.01, p=0.002) and URA (OR 2.71, p=0.04)., Conclusions: In our population, URA was more likely to have associated syndromes or anomalies, and to have worse outcomes over time than MCDK. URA diagnosis was an independent risk factor for chronic kidney injury. Our results will be used to develop a standardized clinical pathway for SFK management. A higher resolution version of the Graphical abstract is available as Supplementary information., (© 2021. IPNA.)