Congenital Anomalies of the Urinary and Reproductive Systems

The hymen is connective tissue attached to the vaginal wall. During fetal development, variations in hymenal development can result in excess hymenal tissue that blocks the opening of the vagina. The hymen can be imperforate (covering the entire opening to the vagina) or partially imperforate (covering a portion of the opening to the vagina).

These variations can cause difficulty inserting a tampon. When the hymen is completely imperforate, patients may have delayed or absent periods along with monthly abdominal pain because the excess hymenal tissue prevents menstrual blood from coming out of the vagina. Patients may also have pain if they attempt sexual intercourse.

At UChicago Medicine, a urogynecologist with additional training in pediatric and adolescent gynecology is part of the care team to treat the unique reproductive and sexual health concerns of each patient with a hymenal variation.

Vaginal Septum

A vaginal septum is extra tissue in the vaginal canal that forms during fetal development. The septum can either be horizontal (transverse) or vertical (longitudinal) and located in the lower, middle or upper part of the vagina. These variations often occur with anomalies of the kidneys or the uterus.

A transverse vaginal septum can block the vaginal canal, leading to pain and difficulty using tampons. A longitudinal septum is typically diagnosed during reproductive years and may cause difficulty using a tampon or painful intercourse.

Vaginal Agenesis

Absence of a vagina, or vaginal agenesis, is a rare developmental variation. Patients often are diagnosed in adolescence when they have not started their period.

Vaginal agenesis is also associated with anomalies affecting the uterus, most commonly the absence of a uterus, sometimes referred to as Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Individuals with vaginal agenesis typically have normally functioning ovaries.

Variations in the development of the uterus, also called Mullerian anomalies, occur because of variations in the development of the Mullerian tubes — the precursors to the fallopian tubes, uterus, cervix and vagina. Although the underlying cause of Mullerian anomalies is not known, some may be hereditary. Gene mutations or developmental differences may also play a role.

The four most common types of Mullerian anomalies are:

• Didelphys uterus (two separate uteri)
• Bicornuate uterus (one uterus with two separate portions)
• Unicornuate uterus (when only half of the uterus forms)
• Arcuate uterus (a uterus with a heart-shaped cavity)

Congenital anomalies can affect the kidneys (which help filter waste from the blood), the ureters (tubes that connect the kidneys to the bladder), the bladder and/or the urethra. If severe, congenital anomalies of the kidney and urinary tract (CAKUT) can cause frequent urinary tract infections and even life-threatening damage to the kidneys.

Most anomalies develop during the eighth week of fetal development and are likely caused when development of genitourinary organs slows or stops. Having diabetes during pregnancy may slightly raise the risk for an infant being born with a urinary tract anomaly.

Types of urinary tract congenital anomalies include:

• Vesicoureteral reflux: Vesicoureteral reflux is a condition in which the ureters are abnormal and allow urine to travel backwards from the bladder toward the kidney. This “reflux” can increase the risk for urinary tract infections and may require repair in childhood to prevent damage to the kidneys.
• Ectopic ureters: Ectopic ureters do not open into the usual part of the bladder but instead into the urethra, vagina or other structure. This can cause problems such as urinary incontinence or recurrent urinary tract infections.
• Duplicated ureters: This is the most common anomaly of the urinary tract, affecting up to 4 percent of the population. It may never cause problems for affected patients, who sometimes only know about their duplicated ureters after medical imaging for other reasons.
• Bladder exstrophy: This occurs when the bladder is open to the abdominal wall. This rare condition often requires immediate surgery in infancy. Patients born with this anomaly often have normal reproductive lives but require close supervision during pregnancy and delivery. They also may have difficulty with urinary incontinence and other gynecologic problems, such as pelvic organ prolapse.

Disorders of sexual development (DSDs) occur when the external genitalia do not develop normally, causing what is termed as “atypical” (formerly “ambiguous”) genitalia. Atypical genitalia are neither typically female nor typically male and might have features similar to both sexes. In some cases, the external genitalia are anatomically typical but do not match the baby’s genetic sex.

Common types of DSDs are:

• Androgen insensitivity syndrome (AIS): In this inherited condition, the developing genetically male fetus does not respond to male hormones such as testosterone. Although the individual is genetically male, the external genitalia appear female.
• Partial androgen insensitivity syndrome (PAIS): This condition is like AIS, but the infant is less severely affected because the inability to respond to male hormones is only partial. These babies will have atypical genitalia. Individuals with PAIS, like those with AIS, are genetically male.
• Congenital adrenal hyperplasia (CAH): The adrenal glands, located on top of the kidneys, produce hormones that regulate several essential bodily functions. In individuals with CAH, the adrenal glands don’t work properly, leading to an increase in male hormones. There are several variations of CAH, but the condition occurs most often in genetically female infants with male-appearing external genitalia. Additionally, some infants with CAH may not be able to regulate salt and water in their body, which can lead to life-threatening complications. This form of CAH is typically diagnosed and treated in early infancy.