Bladder
If the sub‐umbilical portion of the anterior abdominal wall fails to meet in the midline above the genital tubercles, the anterior bladder wall is partially or completely absent, leading to incomplete or total bladder exstrophy. It is always associated with epispadias and other abnormalities of the external genitalia. The clitoral bodies are bifid, and the mons pubis and labia protrude anteriorly. The vaginal introitus is situated anteriorly and is frequently stenosed. Magnetic resonance imaging can be very helpful in identifying the anatomical abnormalities and is used prior to surgery, which is usually done in stages [70,71]. Most patients require vaginoplasty in the teenage years.
A more severe form of this structural defect is cloacal exstrophy, in which there are defects of the urorectal structures, bladder, and terminal gastrointestinal tract [72]. Advances in neonatal surgery can now result in survival rates of up to 100%, and guidelines exist for management which should be undertaken by specialist multidisciplinary teams [73].
Urethra
Failure of the urogenital septum to reach the cloacal membrane leaves the urethra, vagina, and rectum converging into a single channel with a solitary opening on to the perineum.
Congenital abnormalities of the urethra are much less common in females than in males, but duplication of the urethra is a cause of incontinence. The accessory urethra usually arises from the trigone of the bladder and opens onto the anterior wall of the vagina. Mild forms of epispadias may occur in the female, giving rise to disturbance of bladder control and urinary incontinence. The urethral opening lies deep to the mons, and a bifid clitoris is seen [74]. Hypospadias in the female occurs in association with 46,XX DSD. In both epispadias and hypospadias, the female urethra is congenitally short [75]. Meatal stenosis is uncommon in females but can mimic bladder neck obstruction, and urethral cysts of the para‐urethral Skene’s glands can lead to recurrent urinary symptoms. A prolapse of the urethral mucosa occurs only in females [76]. An ectopic ureter may open into the urethra, and any of these urethral abnormalities may present with urinary incontinence, which leads to an irritant contact vulval dermatitis.
Vulval and intestinal abnormalities
A perineal groove is a rare ano‐perineal malformation, but the cause is unclear. It may be due to a failure of the genital folds to fuse or a defect in the urorectal septum. Exposed mucosa extends from the fourchette to the anus and most resolve spontaneously [77]. An imperforate anus or anal stenosis may be associated with a variety of abnormalities of the genital tract and vulva [78]. An ectopic opening of the lower gastrointestinal tract may be found in the vagina or elsewhere in the perineum. When a rectovaginal fistula is formed, there are often urinary tract abnormalities present as well [79].
Patient Support Groups
Turner Syndrome Foundation
www.turnersyndromefoundation.org
Turner Syndrome Support Society
Turner Syndrome Society of the United States
Disorders of sexual differentiation
MRKH UK
Congenital adrenal hyperplasia
Last accessed September 2021.
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