urogenital abnormalities

Summary

Summary: Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.

Top Publications

  1. Orazi C, Lucchetti M, Schingo P, Marchetti P, Ferro F. Herlyn-Werner-Wunderlich syndrome: uterus didelphys, blind hemivagina and ipsilateral renal agenesis. Sonographic and MR findings in 11 cases. Pediatr Radiol. 2007;37:657-65 pubmed
    ..It usually presents after menarche with progressive pelvic pain, sometimes with regular menses, and a palpable mass due to hemihaematocolpos. The diagnosis is generally made only if the suspicion of this genitourinary syndrome is raised...
  2. Chan Y, Jayaprakasan K, Zamora J, Thornton J, Raine Fenning N, Coomarasamy A. The prevalence of congenital uterine anomalies in unselected and high-risk populations: a systematic review. Hum Reprod Update. 2011;17:761-71 pubmed publisher
  3. Pena A, Bischoff A, Levitt M. The transpubic approach for the correction of complex anorectal and urogenital malformations. J Pediatr Surg. 2011;46:2316-20 pubmed publisher
    ..The transpubic approach has been used mainly to treat urethral injuries and prostate cancer. There are no reports describing this approach in anorectal malformations...
  4. Phillips T. Spectrum of cloacal exstrophy. Semin Pediatr Surg. 2011;20:113-8 pubmed publisher
    ..Despite the extensive malformations noted, many patients have gone on to live fruitful lives...
  5. Pena A, Bischoff A, Breech L, Louden E, Levitt M. Posterior cloaca--further experience and guidelines for the treatment of an unusual anorectal malformation. J Pediatr Surg. 2010;45:1234-40 pubmed publisher
    ..The term posterior cloaca refers to a malformation in which the urethra and vagina are fused, forming a urogenital sinus that deviates posteriorly to open in the anterior rectal wall or immediately anterior to the anus...
  6. Palmer J, Herbst A, Noller K, Boggs D, Troisi R, Titus Ernstoff L, et al. Urogenital abnormalities in men exposed to diethylstilbestrol in utero: a cohort study. Environ Health. 2009;8:37 pubmed publisher
    ..Diethylstilbestrol (DES), a synthetic estrogen widely prescribed to pregnant women during the 1940s70s, has been shown to cause reproductive problems in the daughters. Studies of prenatally-exposed males have yielded conflicting results...
  7. Shavell V, Montgomery S, Johnson S, Diamond M, Berman J. Complete septate uterus, obstructed hemivagina, and ipsilateral renal anomaly: pregnancy course complicated by a rare urogenital anomaly. Arch Gynecol Obstet. 2009;280:449-52 pubmed publisher
    ..In the case that follows, we report the complicated pregnancy course of a woman diagnosed postpartum with the uncommon syndrome of obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) associated with a complete septate uterus...
  8. Puscheck E, Cohen L. Congenital malformations of the uterus: the role of ultrasound. Semin Reprod Med. 2008;26:223-31 pubmed publisher
    ..We will briefly review the treatments and pregnancy outcomes in these different anomalies...
  9. Kim T, Lee G, Choi Y, Jee B, Ku S, Suh C, et al. Hysteroscopic resection of the vaginal septum in uterus didelphys with obstructed hemivagina: a case report. J Korean Med Sci. 2007;22:766-9 pubmed
    ..We believe that this is the first Korean report on the use of a hysteroscopy for vaginal septum resection in a patient with uterus didelphys with obstructed hemivagina...

More Information

Publications62

  1. Siebert J, Rutledge J, Kapur R. Association of cloacal anomalies, caudal duplication, and twinning. Pediatr Dev Pathol. 2005;8:339-54 pubmed
  2. Raju G, Haranath G, Krishna K, Prakash G, Madan K. Successful pregnancy with laparoscopic oocyte retrieval and in-vitro fertilisation in mullerian agenesis. Singapore Med J. 2006;47:329-31 pubmed
    ..Two weeks after embryo transfer, the pregnancy was confirmed by serum human chorionic gonadotropin levels. Another two weeks later, an ongoing singleton pregnancy with foetal heartbeat was confirmed by transvaginal ultrasonography...
  3. de Santa Barbara P, Roberts D. Tail gut endoderm and gut/genitourinary/tail development: a new tissue-specific role for Hoxa13. Development. 2002;129:551-61 pubmed
    ..We suggest a fundamental role for epithelial specific expression of Hoxa13 in the epithelial-mesenchymal interaction necessary for tail growth and posterior GGU patterning...
  4. Mittal A, Airon R, Magu S, Rattan K, Ratan S. Associated anomalies with anorectal malformation (ARM). Indian J Pediatr. 2004;71:509-14 pubmed
    ..To find the prevalence of associated anomalies in children with anorectal malformation (ARM)...
  5. McHoney M, Ransley P, Duffy P, Wilcox D, Spitz L. Cloacal exstrophy: morbidity associated with abnormalities of the gastrointestinal tract and spine. J Pediatr Surg. 2004;39:1209-13 pubmed
    ..The aim of this study was to review the management of the gastrointestinal tract in cloacal exstrophy and to assess the effect of spinal dysraphism on nutritional outcome...
  6. Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, et al. Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. Clin Genet. 2006;70:57-62 pubmed
    ..and permanent psychomotor deficiency, usually preventing patients from walking, as well as constant urogenital abnormalities, while mutations in the helicase domain lead to delayed but correct psychomotor acquisitions together ..
  7. Schönfelder E, Knüppel T, Tasic V, Miljkovic P, Konrad M, Wühl E, et al. Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans. Am J Kidney Dis. 2006;47:1004-12 pubmed
    ..De novo UPIIIA mutations recently were identified in 4 of 17 patients with severe bilateral renal adysplasia...
  8. Jenkins D, Bitner Glindzicz M, Malcolm S, Hu C, Allison J, Winyard P, et al. De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. J Am Soc Nephrol. 2005;16:2141-9 pubmed
    ..Therefore, although the mechanisms of action of the UPIIIa mutations have yet to be determined, these findings have important implications regarding genetic counseling of affected individuals who reach reproductive age...
  9. Biason Lauber A, Konrad D, Navratil F, Schoenle E. A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. N Engl J Med. 2004;351:792-8 pubmed
    ..WNT4 appears to be important in the development and maintenance of the female phenotype in women, by means of the regulation of müllerian-duct formation and control of ovarian steroidogenesis...
  10. Casale P, Grady R, Waldhausen J, Joyner B, Wright J, Mitchell M. Cloacal exstrophy variants. Can blighted conjoined twinning play a role?. J Urol. 2004;172:1103-6, discussion 1106-7 pubmed
    ..For normal single births with evidence of first trimester twinning, vanishing twin rates of 13% to 78% have been reported. We propose that blighting of a conjoined twin can result in an infant with a variation of cloacal exstrophy...
  11. Wyndaele J, Grima F, Castro D, Madersbacher H, Chartier Kastler E, Igawa Y, et al. [The various voiding modes in neurourology]. Prog Urol. 2007;17:475-509 pubmed
  12. Zakashansky K, Peiretti M, Mahdavi A, Chun J, Nezhat F. Combined laparoscopic and radical vaginal treatment of primary vaginal leiomyosarcoma in a patient with unicornuate uterus and pelvic kidney. J Minim Invasive Gynecol. 2007;14:518-20 pubmed
    ..It is nonetheless important to be aware of the close embryonic association between the genital and urinary tracts when evaluating such patients and choosing the appropriate surgical and therapeutic approach...
  13. Vella M, Karydi M, Coraci G, Oriti R, Melloni D. Pathophysiology and clinical aspects of urinary lithiasis. Urol Int. 2007;79 Suppl 1:26-31 pubmed
    ..Finally, we report on the roles of urinary tract malformations, urinary tract infections and drugs in the clinical characterization of urolithiasis...
  14. Lawal T, Chatoorgoon K, Bischoff A, Pena A, Levitt M. Management of H-type rectovestibular and rectovaginal fistulas. J Pediatr Surg. 2011;46:1226-30 pubmed publisher
    ..We describe our approach and outcome in the management of these patients...
  15. Malone P, Hall Craggs M, Mouriquand P, Caldamone A. The anatomical assessment of disorders of sex development (DSD). J Pediatr Urol. 2012;8:585-91 pubmed publisher
    ..In this paper we present a systematic approach to this assessment which will provide a means by which the multiple disciplines who manage patients with these rare and complex conditions can communicate and thus improve overall care...
  16. Heikkilä J, Taskinen S, Toppari J, Rintala R. Posterior urethral valves are often associated with cryptorchidism and inguinal hernias. J Urol. 2008;180:715-7 pubmed publisher
    ..We evaluated the incidence of cryptorchidism and inguinal hernias in patients with posterior urethral valves, and compared characteristics in patients with and without cryptorchidism or inguinal hernia...
  17. Pauleta J, Melo M, Borges G, Carvalho R, Marques J, Dupont J, et al. Prenatal diagnosis of persistent urogenital sinus with duplicated hydrometrocolpos and ascites--a case report. Fetal Diagn Ther. 2010;28:229-32 pubmed publisher
    ..The presumptive diagnosis was confirmed after birth. One month later, the newborn underwent reconstructive surgical intervention with good outcome...
  18. Vuillard E, Chitrit Y, Dreux S, Elghoneimi A, Oury J, Muller F. Sonographic measurement of corpus spongiosum in male fetuses. Prenat Diagn. 2011;31:1160-3 pubmed publisher
    ..These references can be useful when fetal genital anomalies are suspected, particularly to distinguish micropenis from concealed penis cases...
  19. Ruggeri G, Gargano T, Antonellini C, Carlini V, Randi B, Destro F, et al. Vaginal malformations: a proposed classification based on embryological, anatomical and clinical criteria and their surgical management (an analysis of 167 cases). Pediatr Surg Int. 2012;28:797-803 pubmed publisher
    ..We propose a new classification, focused only on vagina and based on embryological, anatomical, clinical and surgical criteria...
  20. Heidet L, Moriniere V, Henry C, De Tomasi L, Reilly M, Humbert C, et al. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2017;28:2901-2914 pubmed publisher
    ..Targeted exome sequencing also proved to be an efficient and cost-effective strategy to identify pathogenic mutations and deletions in known CAKUT genes. ..
  21. Takami M, Aoki S, Kurasawa K, Okuda M, Takahashi T, Hirahara F. A classification of congenital uterine anomalies predicting pregnancy outcomes. Acta Obstet Gynecol Scand. 2014;93:691-7 pubmed publisher
    ..To evaluate pregnancy outcomes in women with uterine anomalies by applying a method for diagnosing and classifying congenital uterine malformations...
  22. Kajbafzadeh A, Amini E, Javan Farazmand N, Sahebpour A. Complex genitourinary duplication affecting neurourologic and urodynamic findings: report of a case and review of the literature. J Pediatr Adolesc Gynecol. 2013;26:e109-11 pubmed publisher
    ..We report a case of complete bladder duplication associated with multiple non-genitourinary anomalies...
  23. Carpenter A, Becknell M, Ching C, Cuaresma E, Chen X, Hains D, et al. Uroplakin 1b is critical in urinary tract development and urothelial differentiation and homeostasis. Kidney Int. 2016;89:612-24 pubmed publisher
    ..Furthermore, Upk1b plays a previously unknown role in early kidney development representing a novel genetic target for congenital anomalies of the kidney and urinary tract. ..
  24. Sugiura Ogasawara M, Ozaki Y, Suzumori N. Müllerian anomalies and recurrent miscarriage. Curr Opin Obstet Gynecol. 2013;25:293-8 pubmed publisher
    ..To review the prevalence of congenital uterine anomalies and pregnancy outcomes in patients with these anomalies...
  25. England R, Subramaniam R. Functional and cosmetic outcome of the VQ plasty for Mitrofanoff stomas. J Urol. 2007;178:2607-10; discussion 2610 pubmed
    ..We simplified our approach by using a VQ flap at the distal end of the Pfannenstiel incision. We present a comparison of the functional and cosmetic outcome of these 2 approaches...
  26. Dastgiri S, Imani S, Kalankesh L, Barzegar M, Heidarzadeh M. Congenital anomalies in Iran: a cross-sectional study on 1574 cases in the North-West of country. Child Care Health Dev. 2007;33:257-61 pubmed
    ..At least one congenital anomaly is present in between 1% and 6% of all infants throughout the world. The aim of this study was to document some epidemiological features of congenital anomalies in the North-West of Iran...
  27. Hornor G. Genitourinary assessment: an integral part of a complete physical examination. J Pediatr Health Care. 2007;21:162-70 pubmed
    ..An assessment of the reproductive and urologic systems should begin with obtaining a focused history from the parent from birth to present. Techniques for performing a focused genitourinary examination will be discussed...
  28. Salerno P, Bianchi F, Pierini A, Baldi F, Carbone P, Mantovani A, et al. [Folic acid and congenital malformation: scientific evidence and public health strategies]. Ann Ig. 2008;20:519-30 pubmed
    ..Currently, periconceptional supplementation and healthy dietary habits promotion appear to be the most effective strategies...
  29. Liang M, Subramanian A, Weedin J, Griffith D, Awad S. True duplication of the vas deferens: a case report and review of literature. Int Urol Nephrol. 2012;44:385-91 pubmed publisher
    ..Duplicate vas deferens should not be confused with double vas deferens that describes ipsilateral renal agenesis with a blind ureter ending in the ejaculatory system...
  30. Feier D, Fufezan O, Tătar S, Cobzac G, Popa R. Ultrasonography contribution in detection of reno-urinary anomalies: a cohort study. Med Ultrason. 2010;12:205-12 pubmed
    ..The current study aims to assess the role of ultrasound (US) parameters in explaining the variance of hydronephrosis grades in reno-urinary anomalies, as well as their performance in quantifying the incidence of patients with uropathies...
  31. Hensle T, Deibert C. Adult male health risks associated with congenital abnormalities. Urol Clin North Am. 2012;39:109-14 pubmed publisher
    ..An understanding and awareness of the consequences of these 3 congenital abnormalities is paramount for the long-term care of the pediatric patient as he transitions to adolescence and adulthood...
  32. Clayton D, Brock J. Prenatal ultrasound and urological anomalies. Pediatr Clin North Am. 2012;59:739-56 pubmed publisher
    ..As the degree of fetal hydronephrosis increases so does the risk of true urinary tract pathology. Diagnoses that require more urgent care include causes of lower urinary tract obstruction and bladder and cloacal exstrophy...
  33. Ludwin A, Pitynski K, Ludwin I, Banas T, Knafel A. Two- and three-dimensional ultrasonography and sonohysterography versus hysteroscopy with laparoscopy in the differential diagnosis of septate, bicornuate, and arcuate uteri. J Minim Invasive Gynecol. 2013;20:90-9 pubmed publisher
  34. Vlangos C, Siuniak A, Ackley T, van Bokhoven H, Veltman J, Iyer R, et al. Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication. Am J Med Genet A. 2011;155A:38-49 pubmed publisher
    ..Based on our data, OEIS complex is unlikely to be caused by a recurrent chromosomal aberration...
  35. Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo M, et al. Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1. J Endocrinol Invest. 2016;39:227-33 pubmed publisher
    ..This study highlights the importance of early recognition of BPES and emphasizes the need of personalized therapy and follow-up in female patients carrying distinct FOXL2 mutations. ..
  36. Bettocchi S, Ceci O, Nappi L, Pontrelli G, Pinto L, Vicino M. Office hysteroscopic metroplasty: three "diagnostic criteria" to differentiate between septate and bicornuate uteri. J Minim Invasive Gynecol. 2007;14:324-8 pubmed
    ..To evaluate the benefits of adopting 3 simple "diagnostic criteria" in the differential diagnosis between septate and bicornuate uteri, and the relative treatment by hysteroscopy in an office setting...
  37. Nelson C, Johnson E, Logvinenko T, Chow J. Ultrasound as a screening test for genitourinary anomalies in children with UTI. Pediatrics. 2014;133:e394-403 pubmed publisher
    ..We sought to determine test characteristics and predictive values of RBUS for VCUG findings in this setting...
  38. Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, et al. Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. Am J Hum Genet. 2014;94:288-94 pubmed publisher
    ..These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease...
  39. de Leeuw N, Bulk S, Green A, Jaeckle Santos L, Baker L, Zinn A, et al. UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. Am J Med Genet A. 2010;152A:3084-90 pubmed publisher
    ..Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck...
  40. Patel M. Use of rotational fluoroscopy and 3-D reconstruction for pre-operative imaging of complex cloacal malformations. Semin Pediatr Surg. 2016;25:96-101 pubmed publisher
  41. de Oliveira R, Marijanovic Z, Carvalho F, Miltényi G, Matos J, Tenreiro S, et al. Impaired proteostasis contributes to renal tubular dysgenesis. PLoS ONE. 2011;6:e20854 pubmed publisher
    ..In addition, we found that temperature shifting causes the ACE Q1069R protein to be secreted in an active state, suggesting that the mutation does not affect the enzyme's catalytic properties...
  42. Kim Y, Kim H, Kim H, Yang S, Park M, Yoon J, et al. Deficiency in DGCR8-dependent canonical microRNAs causes infertility due to multiple abnormalities during uterine development in mice. Sci Rep. 2016;6:20242 pubmed publisher
    ..Collectively, we suggest that DGCR8-dependent canonical microRNAs are essential for uterine development and physiological processes such as proper immune modulation, reproductive cycle, and steroid hormone responsiveness in mice. ..
  43. Valentini A, Giuliani M, Gui B, Laino M, Zecchi V, Rodolfino E, et al. Persistent Urogenital Sinus: Diagnostic Imaging for Clinical Management. What Does the Radiologist Need to Know?. Am J Perinatol. 2016;33:425-32 pubmed publisher
    ..Special attention will be paid in discussing the role of different imaging modalities and their contribution to the diagnosis and clinical management of patients. ..
  44. Aulbert W, Kemper M. Severe antenatally diagnosed renal disorders: background, prognosis and practical approach. Pediatr Nephrol. 2016;31:563-74 pubmed publisher
    ..4. A multidisciplinary approach with specialist input is required when counselling a family with an ROH-affected fetus as the decision-making process is very challenging. ..
  45. Toledano M, Nelson P. Male fertility-related disorders: cause for concern or a stalking horse?. Arch Dis Child. 2007;92:565-7 pubmed
  46. Bolton H, Choji K, Pandit M. Embolization as first-line treatment in the management of puerperal hematoma in a case of congenital urogenital anomaly. Congenit Anom (Kyoto). 2008;48:48-50 pubmed publisher
    ..We are fortunate to have local expertise in pelvic artery embolization and demonstrate excellent multidisciplinary management of a complex case...
  47. Naiditch J, Radhakrishnan J, Chin A, Cheng E, Yerkes E, Reynolds M. Fate of the uterus in 46XX cloacal exstrophy patients. J Pediatr Surg. 2013;48:2043-6 pubmed publisher
    ..We performed this review to determine the rate of gynecological complications, the fate of the uterus, and the rate of pregnancy in 46XX cloacal exstrophy patients...
  48. Lorette G, Machet M, Maruani A. Parameatal cyst in a 4-year-old boy. Eur J Pediatr. 2013;172:1701 pubmed publisher
    ..Immunohistochemical staining was positive for pan-cytokeratins (AE-1/AE-3) and negative for actin. These findings led to a diagnosis of urethral parameatal cyst...
  49. Yokoo N, Marumo C, Nishida Y, Iio J, Maeda S, Nonaka M, et al. A case of Toriello-Carey syndrome with severe congenital tracheal stenosis. Am J Med Genet A. 2013;161A:2291-3 pubmed publisher
  50. Rawashdeh M, Jawdat Abu Hawas B. Congenital associated malformations in a sample of Jordanian patients with cleft lip and palate. J Oral Maxillofac Surg. 2008;66:2035-41 pubmed publisher
    ..To report the prevalence of associated congenital malformations in Jordanian subjects with oral clefts...
  51. Patra S, Purkait R. Urorectal septum malformation sequence in a newborn with VACTERL association. J Coll Physicians Surg Pak. 2012;22:116-7 pubmed publisher
  52. Li J, Zhao D, Ding J, Xiao H, Fan Q, Guan N, et al. [Clinical characteristics and WT1 genetic analysis of patients with steroid-resistant nephrotic syndrome accompanied with genitourinary malformations]. Zhonghua Er Ke Za Zhi. 2008;46:692-7 pubmed
    ..The expression of podocyte molecules was also investigated in renal specimen of these WT1 mutated patients...
  53. Papaioannou G, Koussidis G, Michala L. Magnetic resonance imaging visualization of a vaginal septum. Fertil Steril. 2011;96:1193-4 pubmed publisher
    ..Instilling gel through the introitus allows for better depiction of the distal vagina...