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Anatomy & Cell Biology Dec 2023Bladder exstrophy is a rare congenital condition of the pelvis, bladder, and lower abdomen that opens the bladder against the abdominal wall, produces aberrant growth,... (Review)
Review
Bladder exstrophy is a rare congenital condition of the pelvis, bladder, and lower abdomen that opens the bladder against the abdominal wall, produces aberrant growth, short penis, upward curvature during erection, wide penis, and undescended testes. Exstrophy affects 1/30,000 newborns. The bladder opens against the abdominal wall in bladder exstrophy, a rare genitourinary condition. This study is vital to provide appropriate therapy choices as a basis to improve patient outcomes. This study may explain bladder exstrophy and provide treatment. Epispadias, secretory placenta, cloacal exstrophy, and other embryonic abnormalities comprise the exstrophy-spades complex. The mesenchymal layer does not migrate from the ectoderm and endoderm layers in the first trimester, affecting the cloacal membrane. Embryological problems define the exstrophy-aspidistra complex, which resembles epimedium, classic bladder, cloacal exstrophy, and other diseases. Urogenital ventral body wall anomalies expose the bladder mucosa, causing bladder exstrophy. Genetic mutations in the Hedgehog cascade pathway, Wnt signal, FGF, BMP4, Alx4, Gli3, and ISL1 cause ventral body wall closure and urinary bladder failure. External factors such as high maternal age, smoking moms, and high maternal body mass index have also been associated to bladder exstrophy. Valproic acid increases bladder exstrophy risk; chemicals and pollutants during pregnancy may increase bladder exstrophy risk. Bladder exstrophy has no identified cause despite these risk factors. Exstrophy reconstruction seals the bladder, improves bowel function, reconstructs the vaginal region, and restores urination.
PubMed: 37649128
DOI: 10.5115/acb.23.056 -
Life (Basel, Switzerland) Mar 2024Isolated male epispadias is one of the most severe congenital genital anomalies that require surgical correction. The goals of the surgery are to reach good aesthetic...
Isolated male epispadias is one of the most severe congenital genital anomalies that require surgical correction. The goals of the surgery are to reach good aesthetic and functional outcomes. The aim of this retrospective study was to analyze the long-term outcomes of surgical reconstruction of male epispadias. A total of 31 patients with a mean age of 17 years, who underwent surgical repair of isolated male epispadias from January 2000 to January 2015, were involved. The main outcome measures were defined as: aesthetic outcome, continence, postoperative complications, sexual function, and quality of life. The follow-up period ranged from 8 to 23 years, with an average of 14.4 years. Each patients underwent an average of 2.2 surgical procedures in this period. The most common postoperative complications were urethral fistula and residual curvature, in 22.6% and 12.9%, respectively. Satisfactory aesthetic outcome was reported in 71.4% of cases. The repair of male epispadias usually includes more than two procedures with satisfactory aesthetic outcome. Unsolved urinary incontinence remains a significant issue and has a high impact on the quality of life. Follow-up should be extended even after complete sexual maturity. Comprehensive long-term evaluation is necessary for proper treatment of isolated epispadias.
PubMed: 38672717
DOI: 10.3390/life14040446 -
International Journal of Surgery Case... Jul 2023Isolated male epispadias is a rare entity with incidence of approximately 1 in 120,000 live births. Epispadias usually presents with a phimotic preputial orifice where...
INTRODUCTION AND IMPORTANCE
Isolated male epispadias is a rare entity with incidence of approximately 1 in 120,000 live births. Epispadias usually presents with a phimotic preputial orifice where glans is not visible and hence is also known as concealed epispadias. Buried penis in children is defined as a congenital insufficient penile skin with an unretractable foreskin that keeps the penis deep inside the pre-pubic fat. This congenital malformation of the penile envelopes is usually isolated. However, in some cases the concealed penis hides an underlying penile anomaly. We present surgical repair of a very rare case with concealed epispadias.
CASE PRESENTATION
A nine-month-old infant had buried his penis, and his mother was seeking his circumcision. Local examination revealed concealed penopubic epispadias. A pediatric surgeon operated on this patient using the modified partial penile disassembly technique. The patient was doing well at follow-up visits at one, three, and six months. There were no urethral stricture or obstructive urinary symptoms. The parents were satisfied with the cosmetic outcome.
CLINICAL DISCUSSION
The embryogenesis and development of the urethra and the prepuce are linked. Urethral development defects (as in hypospadias or epispadias) are frequently coupled with faulty prepuce on the same side. The goal of surgical management for epispadias is to correct the dorsal chordee and reconstruct the epispadiac urethra and glans. Based on the cosmesis of the penis reconstruction, preservation of erectile function, and achieving urine continence, the outcome is evaluated.
CONCLUSION
Concealed epispadias is frequently ignored because patients appear with buried penis, non-retractile prepuce, and a normal urine stream. Preoperative diagnosis and parent counseling are critical for the effective treatment of this uncommon entity. The modified partial penile disassembly procedure, in which the tunica albuginea is stitched to the pubic periosteum at 3 and 9 o'clock, can be used to correct buried epispadias.
PubMed: 37336177
DOI: 10.1016/j.ijscr.2023.108406 -
Biomolecules Jul 2023The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the...
BACKGROUND
The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal tract as well.
METHODS
Herein, we performed an exome analysis of case-parent trios with cloacal exstrophy (CE), the most severe form of the BEEC. Furthermore, we surveyed the exome of a sib-pair presenting with classic bladder exstrophy (CBE) and epispadias (E) only. Moreover, we performed large-scale re-sequencing of CBE individuals for novel candidate genes that were derived from the current exome analysis, as well as for previously reported candidate genes within the CBE phenocritical region, 22q11.2.
RESULTS
The exome survey in the CE case-parent trios identified two candidate genes harboring de novo variants (, ), four candidate genes with autosomal-recessive biallelic variants (, , , ) and one candidate gene with suggestive uniparental disomy (). However, re-sequencing did not identify any additional variant carriers in these candidate genes. Analysis of the affected sib-pair revealed no candidate gene. Re-sequencing of the genes within the 22q11.2 CBE phenocritical region identified two highly conserved frameshift variants that led to early termination in two independent CBE males, in (c.978_985del, p.Ser327fster6) and in (c.1087delC, p.Arg363fster68).
CONCLUSIONS
According to previous studies, our study further implicates in CBE formation. Exome analysis-derived candidate genes from CE individuals may not represent a frequent indicator for other BEEC phenotypes and warrant molecular analysis before their involvement in disease formation can be assumed.
Topics: Male; Humans; Bladder Exstrophy; Epispadias; Exome; Urinary Bladder; Calcium-Binding Proteins; Membrane Proteins; Transcription Factors
PubMed: 37509153
DOI: 10.3390/biom13071117 -
Cureus Sep 2023Epispadias is a congenital malformation marked by the failure of the urethral bulb to tubularize dorsally. This results in a wide-open urethral plate dorsally....
Epispadias is a congenital malformation marked by the failure of the urethral bulb to tubularize dorsally. This results in a wide-open urethral plate dorsally. Epispadias is frequently associated with bladder exstrophy-epispadias complex. We report the case of a five-year-old patient who presented in the outpatient department with isolated epispadias without any other associated abnormality. This report aims to document this rare case of isolated male epispadias with incontinence and the success of using the modified Cantwell-Ransley technique for its treatment.
PubMed: 37905290
DOI: 10.7759/cureus.46160 -
Children (Basel, Switzerland) May 2024Cloacal exstrophy is the most severe congenital anomaly of the exstrophy-epispadias complex and is characterized by gastrointestinal, genitourinary, neurospinal, and... (Review)
Review
Cloacal exstrophy is the most severe congenital anomaly of the exstrophy-epispadias complex and is characterized by gastrointestinal, genitourinary, neurospinal, and musculoskeletal malformations. Individualized surgical reconstruction by a multidisciplinary team is required for these complex patients. Not infrequently, patients need staged surgical procedures throughout childhood and adolescence. Following significant improvements in medical care and surgical reconstructive techniques, nearly all patients with cloacal exstrophy now survive, leading to an increased emphasis on quality of life. Increased attention is given to gender identity and the implications of reconstructive decisions. Long-term sequelae of cloacal exstrophy, including functional continence and sexual dysfunction, are recognized, and many patients require ongoing complex care into adulthood.
PubMed: 38790539
DOI: 10.3390/children11050544 -
Urology Case Reports Sep 2023Epispadias is a malformation of the urethra in which the urethral opening ends on the dorsum of the penis. It is considered a rare anomaly, especially when associated...
Epispadias is a malformation of the urethra in which the urethral opening ends on the dorsum of the penis. It is considered a rare anomaly, especially when associated with urethral duplication. Urethral duplication is another congenital anomaly that has different clinical manifestations and a separate classification. In this case, we present a 4-year-old boy who underwent epispadias repair and was found to have an accidently duplicated urethra of Effiman's Type ⅡA during the operation. Excision of the accessory urethra was performed, and the patient tolerated the procedure well.
PubMed: 38586063
DOI: 10.1016/j.eucr.2023.102506 -
African Journal of Paediatric Surgery :... 2023Classical bladder exstrophy is a congenital anomaly whose management and outcome has advanced over years. Management and outcome are better when management starts at the...
Classical bladder exstrophy is a congenital anomaly whose management and outcome has advanced over years. Management and outcome are better when management starts at the newborn period. This was the management of a neglected bladder exstrophy in a male presenting at 16 years of age. We report our challenges, management and outcome to highlight the rarity of this presentation, and the adaptation to the usual protocol of care. The patient presented at 16 years of age with classic bladder exstrophy. The bladder plate was contracted and had cystitis. The patient had a modification of complete primary repair of exstrophy (CPRE) with bilateral pelvic osteotomy stabilised with a 7-hole plate and 4 screws, then bladder neck reconstruction + bladder augmentation + cross-trigonal neocystoureterostomy in a 12-h procedure. He had surgical site infection, superficial wound breakdown and vesicocutaneous fistula that all healed with dressing and prolonged suprapubic cystostomy drainage. He achieved some degree of urinary continence and ability to void, though he still has stress incontinence and frequency at 6 months of follow-up. He has a micturition interval of 60-120 min, and is expected to improve. Presentation and repair of classic bladder exstrophy in the adolescent is very rare in the literature and therefore no known standard of care. This report adds to the body of knowledge. Again, this experience lends credence to the proponents of CPRE in reducing the number of procedures required to treat exstrophy.
Topics: Infant, Newborn; Humans; Male; Adolescent; Bladder Exstrophy; Urinary Incontinence; Urologic Surgical Procedures; Urination; Plastic Surgery Procedures; Treatment Outcome; Epispadias
PubMed: 37470562
DOI: 10.4103/ajps.ajps_172_21 -
Urology Case Reports May 2024In less than 10% of cases, males may have isolated epispadias, which is caused by failure in the urethral tubularization process, leading to dorsal urethral defect. This...
In less than 10% of cases, males may have isolated epispadias, which is caused by failure in the urethral tubularization process, leading to dorsal urethral defect. This case report presents a unique instance where epispadias was associated with ambiguous genitalia. A 5-year-old boy diagnosed with epispadias. The penis resembled external female genitalia, with scrotal skin covering it. He underwent a two-stage operation without complications. The aim of the surgical techniques is to correct these anomalies and restore urinary continence and sexual function. Long-term outcomes of the surgery can vary, which highlights the need for further research.
PubMed: 38559702
DOI: 10.1016/j.eucr.2024.102707