Genitourinary Birth Defects

Birth defects can involve the genitals and urinary tract. (Read about "Birth Defects") Genitourinary defects can affect the urinary system (Read about "The Urinary System"), as well as the male and female genitals. For boys, the genitals include the penis, prostate gland (Read about "Genital Health - Male") and testes. For girls, the genitals include the vagina, uterus, fallopian tubes and ovaries. (Read about "Genital Health - Female")

The March of Dimes (MOD) calls genitourinary defects common, affecting as many as 1 in 10 babies. Some of these abnormalities are minor and cause no symptoms. Others can cause pain, urinary tract infections and kidney disease. (Read about "Urinary Tract Infections" "Kidney Disease")

Some examples of genitourinary birth defects include:

• Bladder exstrophy - Bladder exstrophy is a malformation of the bladder in which the bladder is turned inside out and located on the outside of the abdomen. This can be repaired surgically, although a number of surgeries may be necessary.
• Epispadias - Epispadias is a defect involving the urethra and genitals. Bladder exstrophy may be present with epispadias as well. This can be repaired surgically, although a number of surgeries may be necessary.
• Genital ambiguity - Babies who are born with ambiguous genitals have external genital organs that do not appear clearly male or female, or they may have features of both. MOD says an estimated 1 in 1,000 to 1 in 2,000 babies are affected. Causes include chromosomal and genetic disorders (Read about "Genetics"), hormonal disturbances, enzyme deficiencies and unexplained abnormalities of fetal tissue. MOD says that studies will need to be done on these babies to define their gender, followed by hormonal and/or surgical treatment.
• Hydronephrosis (neonatal) - Hydronephrosis involves swelling of one or both kidneys. The swelling is due to an accumulation of urine that cannot flow out of the kidney(s) because of a blockage somewhere in the urinary tract. MOD says that in infants, the blockage that causes hydronephrosis often is caused by a flap of tissue near where urine empties from the bladder. Many mild cases of hydronephrosis resolve without surgery. More severe cases can lead to significant problems and require surgery to correct the blockage. MOD says that hydronephrosis can sometimes become life threatening before birth. In such cases, a small tube called a shunt may be inserted into the fetus's bladder to drain urine into the amniotic fluid until birth, when the blockage can be repaired.
• Hypospadias - MOD calls hypospadias a common birth defect of the penis that affects nearly 1 percent of baby boys. In this defect the urethra does not extend to the tip of the penis. Instead, the opening of the urethra is located somewhere along the underside of the penis. Circumcision (Read about "Circumcision") is not suggested for boys born with this condition because the foreskin can be used to repair the defect. The National Center on Birth Defects and Developmental Disabilities says treatment depends on how far away from the tip the opening is, and it can involve complex surgery. MOD says surgery is usually done between the 9th and 15th month of life.
• Polycystic kidney disease (PKD) - Polycystic kidney disease is an inherited disorder that results in the growth of numerous cysts in the kidneys, reduced kidney function and, often, kidney failure. The two main forms of the disorder are autosomal dominant and autosomal recessive PKD. (Read about "Polycystic Kidney Disease")
• Renal agenesis - Renal agenesis is the absence of one or both kidneys. MOD says about 1 in 4,000 babies is born with neither kidney (bilateral renal agenesis), a fatal condition. About one in 550 babies are born with a single kidney (unilateral renal agenesis). Babies born with a single kidney often can live normal lives, although they may be at increased risk for kidney infections, kidney stones, high blood pressure and kidney disease. (Read about "Kidney Stones" "Hypertension: High Blood Pressure" "Kidney Disease")
• Undescended testicle/cryptorchidism - While in the womb, the testicles remain in the abdomen. They descend into the scrotum shortly before birth or just after. When that doesn't happen, it is called undescended testicle. The medical term is cryptorchidism. The American Academy of Family Physicians (AAFP) says it will probably descend on its own in the first few months but if not may need to be treated by a doctor. AAFP estimates that 30 percent of premature (Read about "Preterm Labor") boys and 5 percent of those born on time have the condition. An undescended testicle needs to be treated to protect a child's future ability to have children. If the testicle remains in the abdomen, it will have a more difficult time producing sperm. (Read about "Infertility") An undescended testicle is also a risk factor for testicular cancer. (Read about "Testicular Cancer")
• Vesicoureteral reflux, primary - Vesicoureteral reflux (VUR) is the abnormal flow of urine from the bladder back into the ureters. Primary VUR occurs when a child is born with an impaired valve where the ureter joins the bladder. According to the National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC), this happens if the ureter did not grow long enough during the child's development in the womb. The valve does not close properly, so urine backs up (refluxes) from the bladder to the ureters, and eventually to the kidneys. NKUDIC says this type of VUR can get better or disappear as the child gets older.