Disorders of the Genital Tract and Urinary System in Children

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Ambiguous Genitalia

When a newborn infant's genitals are not clearly male or female, the infant is said to have ambiguous genitalia. The baby genitals may have external features of both sexes and/or the sex organs may not match his/her internal sex organs or their genetic sex.

Bladder Exstrophy and Epispadias

Bladder exstrophy is a complex birth defect in which in which the bladder is outside of the abdomen. It usually occurs together with epispadias, a defect in the urethral opening.

Bladder Outlet Obstruction

When a person has difficulty urinating, this is often due to bladder outlet obstruction. With BOO, something is causing a blockage in the bladder and preventing the urine from flowing out of the body. The blockage can be partial or complete.

Cloaca Anomaly

Cloaca Anomaly is a major malformation of the intestinal genital and urinary tracts in females.

Cloacal Exstrophy

Cloacal exstrophy is a serious birth defect in which the pelvic organs do not form properly. It is a very rare problem, occurring is every 300,000 live births.

Congenital Anomalies of the Urinary Tract

Congenital anomalies of the urogenital tract, are a broad group of common, mild to life-threatening malformations present at birth that occur during fetal development of the urinary/genital system.

Daytime Enuresis

Daytime enuresis is a problem that occurs among children in which they have urine accidents during the day. It’s common among school-age children between the ages of 4 and 12.

Duplex Collecting System

In a normal urinary tract, the ureters are two thin tubes in the abdomen, one each connecting a kidney to the bladder. These enable the removal of urine from the body. When a duplex collecting system is present, two ureters (one draining the upper part of a kidney-the other draining the lower half) connect each kidney to the bladder. Often a ballooning of the ureter (ureterocele) occurs in the ureter draining the top half of the kidney, close to the bladder which with its lower bladder position may cause urinary reflux (backflow of urine from the bladder towards the kidney-vesicoureteral reflux-VUR, and hydronephrosis-swelling of the kidney).

Dysfunctional Elimination Syndrome

Dysfunctional elimination syndrome is a condition found in children that refers to problems either urinating or defecating normally. It can involve bladder control, bowel control or both and can range in severity.

Ectopic Ureter

The ureters are the tubes in the body that drain urine from the kidneys to the bladder. A ureter that is not connected to the bladder, and drains somewhere else is known as an ectopic ureter.


Please see Bladder Exstrophy and Epispadias for further information.

Gallstones and Gallbladder

The gallbladder is a pear-shaped organ attached to the liver that stores bile. Gallstones are abnormal solid deposits made of cholesterol and biliary pigments. They are found inside the gallbladder.


Red blood cells in the urine is known as hematuria and is quite common in children. Urine may appear to have a pinkish hue, it may be red, or even brown.


Hydronephrosis is a condition where one or both kidneys swell either because of a blockage/obstruction of urine flow or because of reverse urine flow from the bladder.


Hypospadias is a structural birth defect that results in the opening of the penis not being at its tip; its opening being anywhere on the underside of the penis between the scrotum and the lower underside of the penis.

Kidney Stones

A kidney stone is a solid, hard, pebble-like object that forms in a child’s kidneys when normal urine substances become very concentrated.

Meatal Stenosis

The urethra is the tube from the bladder through which urine passes before it exits the body through a hole at the tip of the penis called the meatus. Mental stenosis is a common, abnormal narrowing of the meatus generally occurring in young boys.


The ureter is the tube that carries urine from the kidneys to the bladder. Megaureter literally means large ureter. This problem can lead to infections and potentially severe complications.


A myelomeningocele is a bulge or sac of the fluid that surround the spinal cord. Spina bifida refers to the specific gap in the bony spinal column that protects the spinal cord.

Neurogenic Bladder

Neurogenic bladder means the bladder of a baby/child doesn’t empty properly because of problems with the brain, spinal cord or nerves that control bladder function, essentially paralyzing it.

Posterior Urethral Valves

The urethra is the tube that connects the bladder to the tip of the penis in boys. Posterior urethral valve is a birth defect (congenital) where a baby is born with small, narrow urethral leaflets (valves) that have a very narrow opening (of varying size) which partially blocks the flow of urine leaving the bladder allowing urine in the bladder to “back up” causing damage to the urethra, bladder, ureters and kidneys.

Prune Belly (Eagle-Barrett) Syndrome

Prune belly syndrome is a rare birth defect occurring usually in boys where infants have a triad (three) of abnormalities. These include absence/poor development of abdominal muscles, undescended testicles and a big bladder with problems with their urinary tract which makes it difficult for them to empty their bladders. Infants in addition may have many other birth defects (skeletal, lungs, intestines and heart with girls having abnormalities in their external genitalia).

Torsion of the Appendix Testis

The testicular appendage is a small amount of normal tissue, usually located on the upper part of a testis, left over from the time of testicular fetal development.

Turner Syndrome

Turner syndrome is a condition that affects girls and women, it is caused by a missing or partially missing X chromosome. Clinical symptoms include short stature, delayed puberty, infertility, learning disabilities and heart defects.

Undescended Testicles

Typically by the age of 9 months, an infant boy’s testicles will descend from inside the body into the scrotum. If this does not occur, it is known as undescended testicles.


The ureters connect the kidneys to the bladder and allow urine to pass through. When swelling occurs near the bottom of a ureter where it connects with the bladder, this is known as ureterocele.

Ureteropelvic Junction Obstruction

The ureters connect the kidneys to the bladder and allow urine to pass through. When a blockage occurs where the kidney attaches to the ureter and prevents the flow of urine from the kidneys, this is known as ureteropelvic junction obstruction.

Urethral Prolapse

The urethra is the tube that allows urine to drain from the body. When the inner lining of the urethra protrudes from the opening, this condition is known as urethral prolapse.

Urethral Stricture

The urethra is the tube that allows urine to drain from the body. When the urethra becomes narrow somewhere along its length for some reason, this can cause complications and is known as urethral stricture.


Blood in the urine is a symptom that can accompany many different medical conditions. But when a child has clear urine that is followed at the very end by bright red blood or blood in the underwear, this is known as urethrorrhagia.

Urinary Incontinence

Urinary incontinence refers to the inability to control one’s ability to urinate. This can manifest itself in occasional leaks, or more severe problems with leaking urine that require more serious medical interventions.

Urinary Tract Infection

The body's urinary tract includes the kidneys, bladder, ureters and urethra. When an infection does occur in the urinary system, it is known as a urinary tract infection, or UTI.

Voiding Dysfunction

If an individual has trouble completely emptying the bladder of urine while urinating, this condition is known as voiding dysfunction.