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Epispadias

What Is It, Causes, and More

Author:Nikol Natalia Armata

Editors:Alyssa Haag,Ian Mannarino, MD, MBA,Kelsey LaFayette, DNP, RN

Illustrator:Jessica Reynolds, MS

Copyeditor:David G. Walker


What is epispadias?

Epispadias refers to a rare urogenital birth defect of the urethra found in both males and, more rarely, females assigned at birth in which the urethral tube fails to tubularize as usual. As a result, the urethral opening is found on the dorsal side rather than the tip of the penis in those assigned male at birth and towards or above the clitoris in those assigned female at birth. In epispadias, the space between the expected and the actual urethral opening remains open. 

For reference, the penis has a different definition of dorsal and ventral relative to anatomical standards. Typically, on the human body, dorsal (i.e., posterior) refers to the back portion of the body and ventral (i.e., anterior) to the front part. However, when referring to the penis, the dorsal side describes the top of the penis and ventral refers to the bottom side.

Epispadias is part of the bladder exstrophy-epispadias-complex (BEEC), which is a spectrum of genitourinary malformations. Depending on the severity, BEEC may involve the urinary system, musculoskeletal system; pelvis; abdominal wall; genitalia; and sometimes, the spine and anus. Isolated epispadias is the mildest form of the complex found more frequently in individuals assigned male at birth. Nonetheless, epispadias is rarely identified without other malformations of the BEEC. 

Illustration of lateral view of penis with urethral opening on dorsal side.

What is the difference between epispadias and hypospadias?

Instead of having an opening at the tip of the penis or between the clitoris and the vaginal opening, hypospadias refers to an abnormal opening ventrally on the penis or close to/within the vaginal orifice. On the other hand, epispadias refers to an abnormal opening dorsally on the penis or towards/above the clitoris. 

Of note: According to their Greek origins, the prefix hypo- means below and epi- means above, whereas the suffix -spadias refers to the opening of the urethra

Of the two, hypospadias is more common and is associated with other conditions such as chordee, which is when the penis has a hook shape and curves (usually downward); inguinal hernias, which are protrusions of bowel through the inguinal canal; and cryptorchidism, which is the absence of testes from the scrotum. Epispadias is usually associated with bladder exstrophy, where the bladder protrudes through the abdominal wall. In individuals with female genitalia, a bifid clitoris, which is when the clitoris itself is divided into two parts, can often be identified along with epispadias.

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What causes epispadias?

The precise cause of epispadias is not fully understood but appears to be related to fetal exposure to low levels of androgens and estrogens.

Epispadias is the result of malformations during embryogenesis, starting from the sixth week of gestation when the genital tubercle (i.e., a fetal tissue responsible for the development of the reproductive system) grows in a posterior direction towards the rectal area instead of in the cranial direction. This leaves the urethral tube on the dorsal side of the genital tubercle, which results in epispadias.

Anatomically, in individuals with male genitals, epispadias can occur in three areas: penopubic, where the base of the penis and the abdominal wall come together; penile, which is somewhere along the penis; and glanular, or near the tip of the penis. The least severe is glanular, and the most severe is penopubic.

In individuals with female genitals, development is stimulated by estrogens. The genital tubercle elongates and forms the clitoris in addition to the urethral folds, which create the labia minora and the vestibule. In the 13th week of gestation, the urethra is formed and is situated anterior to the vaginal canal. Epispadias results if the urethra develops too far anteriorly.

What are the signs and symptoms of epispadias?

Signs and symptoms of epispadias largely depend on the location of the abnormal urethral opening. In individuals with male genitals, the symptoms can range from difficulty in urination due to the ectopic position of the urethral opening to incontinence (i.e., loss of bladder control). For individuals with female genitals, the diagnosis often occurs later in life and can cause frequent and painful urination as well as recurrent urinary tract infections. For both individuals with male or female genitals, later on in life, if this anatomical defect is left untreated, it can lead to sexual dysfunction; infertility; and insecurities, especially in intimate relationships.

How is epispadias diagnosed?

The diagnosis of epispadias is mainly clinical and usually made at birth while examining a newborn infant. Imaging studies, like an excretory urogram (i.e., X-ray of the urinary tract) can also be used to help confirm the diagnosis. Notably, a series of X-rays are used to visualize substances passing through the kidneys, the bladder, and the urethra to identify the exact spot from which urine exits.

How is epispadias treated?

In order to treat epispadias, surgery is typically advised to reconstruct the urethra, close the defect, and allow urine to exit through the tip of the urethra. Surgery is usually done within the first two years of life. Sometimes, hormonal therapy can be useful in conjunction with surgery, especially when epispadias did not occur in isolation. For example, infants with epispadias and a micropenis, which is an extremely small penis that results from low androgen levels during development, could benefit from hormonal therapy.

What are the most important facts to know about epispadias?

Epispadias is a rare congenital defect of the urethra in which the urethral tube fails to tubularize as usual and opens to the dorsal side of the penis in males and towards/above the clioris in females. It is often the result of malformations that occur during embryogenesis, most likely due to decreased exposure of the fetus to sex hormones, like androgens and estrogens. Signs and symptoms of epispadias largely depend on the location of the abnormal urethral opening. The diagnosis is mainly clinical and usually made at birth, while imaging studies can also aid in diagnosis. Surgery is typically advised to reconstruct the urethra; however, hormonal therapy is also an option for several mild cases.

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Related links

Hypospadias and epispadias
Pediatric urological conditions: Clinical practice
Bladder exstrophy

Resources for research and reference

Anand, S., & Lotfollahzadeh, S. (2021). Epispadias. In StatPearls. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK563180/ 

Ebert, A. K., Reutter, H., Ludwig, M., & Rösch, W. H. (2009). The exstrophy-epispadias complex. Orphanet Journal of Rare Diseases, 4(23). DOI: 10.1186/1750-1172-4-23