Bladder exstrophy

The classic manifestation of bladder exstrophy presents with:{{citation needed|date=April 2021}}

• A defect in the abdominal wall occupied by both the exstrophied bladder as well as a portion of the urethra
• A flattened puborectal sling
• Separation of the pubic symphysis
• Shortening of a pubic rami
• External rotation of the pelvis.

Females frequently have a displaced and narrowed vaginal orifice, a bifid clitoris, and divergent labia.{{cite book | vauthors = Gearhart JP, Mathews R | veditors = Wein AJ | title = Campbell-Walsh Urology | edition = 10th | location = Philadelphia, Pa | publisher = Saunders Elsevier | date = 2011 | chapter = Chapter 124: Exstrophy-epispadias complex }}

The cause is not yet clinically established but is thought to be in part due to failed reinforcement of the cloacal membrane by underlying mesoderm.{{cite journal |vauthors=Anand S, Lotfollahzadeh S |url=https://www.ncbi.nlm.nih.gov/books/NBK563156/ |title=Bladder Exstrophy |website=National Center for Biotechnology Information, U.S. National Library of Medicine |year=2022 |pmid=33085303 |access-date=25 July 2021 |archive-date=25 October 2023 |archive-url=https://web.archive.org/web/20231025065359/https://www.ncbi.nlm.nih.gov/books/NBK563156/ |url-status=live }}

In a small retrospective study of 25 pregnancies, five factors were found to be strongly associated with a prenatal diagnosis of bladder exstrophy:

• Inability to visualize the bladder on ultrasound
• A lower abdominal bulge
• A small penis with anteriorly displaced scrotum
• A low set umbilical insertion
• Abnormal widening of the iliac crests

While a diagnosis of bladder exstrophy was made retrospectively in a majority of pregnancies, in only three cases was a prenatal diagnosis made.{{cite journal | vauthors = Gearhart JP, Ben-Chaim J, Jeffs RD, Sanders RC | title = Criteria for the prenatal diagnosis of classic bladder exstrophy | journal = Obstetrics and Gynecology | volume = 85 | issue = 6 | pages = 961–4 | date = June 1995 | pmid = 7770267 | doi = 10.1016/0029-7844(95)00069-4 | s2cid = 2096064 }}

The extreme rarity of the disease limits the surgical opportunities to practice the complex closure required in these patients. For this reason, patients have the best outcomes when the bladder closures are performed at high volume centers where surgical and nursing teams have extensive experience in caring for the disease.{{cite journal | vauthors = Nelson CP, Dunn RL, Wei JT, Gearhart JP | title = Surgical repair of bladder exstrophy in the modern era: contemporary practice patterns and the role of hospital case volume | journal = The Journal of Urology | volume = 174 | issue = 3 | pages = 1099–102 | date = September 2005 | pmid = 16094068 | doi = 10.1097/01.ju.0000169132.14799.33 }} The highest volume center in the United States, and the world, is the Johns Hopkins Hospital in Baltimore, Maryland; they have seen over 1300 exstrophy patients in the past 50 years.{{cite journal | vauthors = Kasprenski M, Benz K, Maruf M, Jayman J, Di Carlo H, Gearhart J | title = Modern Management of the Failed Bladder Exstrophy Closure: A 50-yr Experience | journal = European Urology Focus | volume = 6 | issue = 2 | pages = 383–389 | date = March 2020 | pmid = 30292419 | doi = 10.1016/j.euf.2018.09.008 | s2cid = 52926501 }}

Upon delivery, the exposed bladder is irrigated and a non-adherent film is placed to prevent as much contact with the external environment as possible. In the event the child was not born at a medical center with an appropriate exstrophy support team then transfer will likely follow. Upon transfer, or for those infants born at a medical center able to care for bladder exstrophy, imaging may take place in the first few hours of life prior to the child undergoing surgery.

Primary (immediate) closure is indicated only in those patients with a bladder of appropriate size, elasticity, and contractility as those patients are most likely to develop a bladder of adequate capacity after early surgical intervention.{{cite book | vauthors = Gearhart JP, Jeffs RD | chapter = The bladder exstrophy-epispadias complex | veditors = Walsh PC | title = Campbell's urology | edition = 7th | location = Philadelphia | publisher = WB Saunders | date = 1998 | page = 1939 }}

Conditions that are absolute contraindications despite bladder adequacy include duplication of the penis or scrotum and significant bilateral hydronephrosis.{{cite web|url=https://www.lecturio.com/concepts/hydronephrosis/|title=Hydronephrosis|website=The Lecturio Medical Concept Library|access-date=25 July 2021|archive-date=25 July 2021|archive-url=https://web.archive.org/web/20210725120157/https://www.lecturio.com/concepts/hydronephrosis/|url-status=live}}

File:Ectopia vesicae in a man aged 23 years Wellcome L0062460.jpg

Modern therapy is aimed at surgical reconstruction of the bladder and genitalia. Both males and females are born with this anomaly. Treatment is similar.

In males treatments have been:

In the modern staged repair of exstrophy (MSRE) the initial step is closure of the abdominal wall, often requiring a pelvic osteotomy. This leaves the patient with penile epispadias and urinary incontinence. At approximately 2–3 years of age, the patient then undergoes repair of the epispadias after testosterone stimulation. Finally, bladder neck repair usually occurs around the age of 4–5 years, though this is dependent upon a bladder with adequate capacity and, most importantly, an indication that the child is interested in becoming continent. In some of the bladder reconstructions, the bladder is augmented with the addition of a segment of the large intestines to increase the volume capacity of the reconstructed bladder.{{citation needed|date=April 2021}}

In the complete primary repair of exstrophy (CPRE) the bladder closure is combined with an epispadias repair, in an effort to decrease costs and morbidity.{{cite journal | vauthors = Grady RW, Mitchell ME | title = Complete primary repair of exstrophy | journal = The Journal of Urology | volume = 162 | issue = 4 | pages = 1415–20 | date = October 1999 | pmid = 10492227 | doi = 10.1016/S0022-5347(05)68327-9 }} This technique has, however, led to significant loss of penile and corporal tissue, particularly in younger patients.{{cite journal | vauthors = Husmann DA, Gearhart JP | title = Loss of the penile glans and/or corpora following primary repair of bladder exstrophy using the complete penile disassembly technique | journal = The Journal of Urology | volume = 172 | issue = 4 Pt 2 | pages = 1696–700; discussion 1700–1 | date = October 2004 | pmid = 15371793 | doi = 10.1097/01.ju.0000138675.16931.cb }}

In females treatment has included:

Surgical reconstruction of the clitoris, which is separated into two distinct bodies. Surgical reconstruction to correct the split of the mons, redefine the structure of the bladder neck and urethra. Vaginoplasty will correct the anteriorly displaced vagina. If the anus is involved, it is also repaired. Fertility remains and women who were born with bladder exstrophy usually develop prolapse due to the weaker muscles of the pelvic floor.{{cite book | vauthors = Moliterno D | title = Therapeutic advances in thrombosis | publisher = Wiley-Blackwell | location = Chichester, West Sussex | year = 2013 | isbn = 9781405196253|pages=779–798}}

Between 1960 and 2000,{{cite journal | vauthors = Bailey JM, Vasey PL, Diamond LM, Breedlove SM, Vilain E, Epprecht M | title = Sexual Orientation, Controversy, and Science | journal = Psychological Science in the Public Interest | volume = 17 | issue = 2 | pages = 45–101 | date = September 2016 | pmid = 27113562 | doi = 10.1177/1529100616637616 | doi-access = free }} doctors believed XY males with cloacal exstrophy (the most extreme form of bladder exstrophy) would be happier socially as females, and surgically reassigned them. This occurred under the belief that humans were born psychosexually neutral. The practice proved controversial, after follow-ups by William Reiner{{cite journal | vauthors = Reiner WG, Gearhart JP | title = Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth | journal = The New England Journal of Medicine | volume = 350 | issue = 4 | pages = 333–341 | date = January 2004 | pmid = 14736925 | pmc = 1421517 | doi = 10.1056/NEJMoa022236 }} found that many struggled to adhere to a female gender identity, had masculine interests, were attracted to females, or reverted to the male sex spontaneously or upon learning they were genetic males.{{Cite book | vauthors = Bailey JM |url=https://www.researchgate.net/publication/281747420_The_Man_Who_Would_Be_Queen |title=The Man Who Would Be Queen |date=2003 |publisher=Joseph Henry Press |isbn=978-0309084185 |pages=48–52 |format=PDF}}

According to J. Michael Bailey:

{{Blockquote|text=Reiner thinks that all the cloacal cases born as boys would be happier as boys rather than girls, because their brains have been biologically prepared for the male role. He thinks that those who remain girls are at best missing out, and at worst are experiencing great inner torment. He thinks their parents should tell them and, essentially, let them choose their sex.}}

In terms of their sexual orientations, a 2016 academic review by J. Michael Bailey found 7 published cases of boys reassigned female at birth and raised as girls, of which 5 were cloacal exstrophy cases. All were strongly attracted to females. According to a 2015 article in The Boston Globe, Wiliam Reiner has followed up on the sexual orientations of approximately 70 genetic males who were raised as females. Only one reported having sexual attractions to males, "I’m more convinced than ever that sexual orientation is built in... certainly for males" he said.{{Cite web | vauthors = Swidey N |date=23 August 2015 |title=What makes people gay? (An update) |url=https://web.archive.org/web/20150820112932/http://www.bostonglobe.com/magazine/2015/08/22/what-makes-people-gay-update/8Mos2MXHvX5JsxP7AzW9RJ/story.html |access-date= |website=The Boston Globe}} A 2023 review by Swift-Gallant et al. also cited two additional cases from media reports, both of whom were gynephilic.{{Cite journal | vauthors = Swift-Gallant A, Aung T, Rosenfield K, Dawood K, Puts D |date=2023-09-20 |title=Organizational Effects of Gonadal Hormones on Human Sexual Orientation |url=https://rdcu.be/dJ3rO |journal=Adaptive Human Behavior and Physiology |language=en |volume=9 |issue=4 |pages=347 |doi=10.1007/s40750-023-00226-x |issn=2198-7335 |url-access=limited |via=Springer}}

Reiner's results have caused some doctors to reconsider the practice of sex reassigning genetic males. A 2011 study found that 79% of paediatric urologists surveyed favoured male assignment for genetic males with cloacal exstrophy.{{cite journal | vauthors = Diamond DA, Burns JP, Huang L, Rosoklija I, Retik AB | title = Gender assignment for newborns with 46XY cloacal exstrophy: a 6-year followup survey of pediatric urologists | journal = The Journal of Urology | volume = 186 | issue = 4 Suppl | pages = 1642–1648 | date = October 2011 | pmid = 21862059 | doi = 10.1016/j.juro.2011.03.101 }}

• Joe Holliday. British cloacal exstrophy male who was raised female. Masculine interests and attracted to females. Found out born male at age 25, and reverted to male sex.{{Cite web | vauthors = Chapman N |date=10 August 2015 |title=Joe (27) was raised a female on medical advice. He feels his identity was stolen as a baby and wants it back |url=https://www.spaldingvoice.co.uk/joe-27-was-raised-a-female-on-medical-advice-he-feels-his-identity-was-stolen-as-a-baby-and-wants-it-back/ |access-date= |website=The Voice of Spalding and South Holland |language=en-GB}}
• Sophie Ottaway. British cloacal exstrophy male raised as a female. Found out about birth sex at age 22. Retained female identity, although believes the reassignment was incorrect. Attracted to women.{{Cite news | vauthors = Calkin J |date=2023-08-25 |title=‘The doctors changed my gender at two days old – 22 years later, I discovered the truth’ |url=https://www.telegraph.co.uk/family/life/sophie-ottaway-rare-birth-defect-gender-surgery/ |access-date=2024-06-03 |work=The Telegraph |language=en-GB |issn=0307-1235}}

The most important criterion for improving long-term prognosis is success of the initial closure.{{cite journal | vauthors = Oesterling JE, Jeffs RD | title = The importance of a successful initial bladder closure in the surgical management of classical bladder exstrophy: analysis of 144 patients treated at the Johns Hopkins Hospital between 1975 and 1985 | journal = The Journal of Urology | volume = 137 | issue = 2 | pages = 258–62 | date = February 1987 | pmid = 3806816 | doi = 10.1016/s0022-5347(17)43972-3 }}{{cite journal | vauthors = Husmann DA, McLorie GA, Churchill BM | title = Closure of the exstrophic bladder: an evaluation of the factors leading to its success and its importance on urinary continence | journal = The Journal of Urology | volume = 142 | issue = 2 Pt 2 | pages = 522–4; discussion 542–3 | date = August 1989 | pmid = 2746771 | doi = 10.1016/s0022-5347(17)38803-1 }} If a patient requires more than one closure their chance of continence drops off precipitously with each additional closure - at just two closures the chance of voiding continence is just 17%.{{cite journal | vauthors = Novak TE, Costello JP, Orosco R, Sponseller PD, Mack E, Gearhart JP | title = Failed exstrophy closure: management and outcome | journal = Journal of Pediatric Urology | volume = 6 | issue = 4 | pages = 381–4 | date = August 2010 | pmid = 19906564 | doi = 10.1016/j.jpurol.2009.10.009 }}

Even with successful surgery, people may have long-term complications.{{cite journal |vauthors=Gargollo PC, Borer JG |title=Contemporary outcomes in bladder exstrophy |journal=Current Opinion in Urology |volume=17 |issue=4 |pages=272–80 |year=2007 |pmid=17558272 |doi=10.1097/MOU.0b013e3281ddb32f|s2cid=6290323 }} Some of the most common include:

• Vesicoureteral reflux
• Bladder spasm
• Bladder calculus
• Urinary tract infections

Occurring at a rate between 1 in 10,000 to 1 in 50,000 Lattimer JK, Smith MJK: Exstrophy closure: a follow up on 70 cases. J Urol 1966; 95:356. with a male-to-female ratio of 2.3–6:1,{{cite journal | vauthors = Shapiro E, Jeffs RD, Gearhart JP, Lepor H | title = Muscarinic cholinergic receptors in bladder exstrophy: insights into surgical management | journal = The Journal of Urology | volume = 134 | issue = 2 | pages = 308–10 | date = August 1985 | pmid = 4020984 | doi = 10.1016/s0022-5347(17)47139-4 }}{{cite journal | vauthors = Ives E, Coffey R, Carter CO | title = A family study of bladder exstrophy | journal = Journal of Medical Genetics | volume = 17 | issue = 2 | pages = 139–41 | date = April 1980 | pmid = 7381870 | pmc = 1048521 | doi = 10.1136/jmg.17.2.139 }}{{cite journal | vauthors = Lancaster PA | title = Epidemiology of bladder exstrophy: a communication from the International Clearinghouse for Birth Defects monitoring systems. | journal = Teratology | date = 1987 | volume = 36 | issue = 2 | pages = 221–227 | doi = 10.1002/tera.1420360210 | pmid = 3424208 }} bladder exstrophy is relatively rare. For those individuals with bladder exstrophy who maintain their ability to reproduce, the risk of bladder exstrophy in their children is approximately 500-fold greater than the general population.

{{Reflist}}

{{Medical resources

| DiseasesDB = 33377

| ICD10 = {{ICD10|Q|64|1|q|60}}

| ICD9 = {{ICD9|753.5}}

| OMIM = 600057

| ICDO =

| eMedicineSubj = ped

| eMedicineTopic = 704

| Orphanet=93930

}}

{{commons category}}

{{Congenital malformations of urinary system}}

Category:Urinary bladder disorders

Category:Congenital disorders of urinary system

Category:Rare diseases