Birth Defects Genital Urinary Tract

Birth defects, also called “congenital abnormalities,” are internal or external structural malformations of the body that are present from birth. Birth defects can affect any of the body’s systems, including the genital and urinary tract systems.

Genital and urinary tract defects can affect the body’s:

  • Ability to get rid of wastes
  • Ability to conceive
  • Reproductive ability
  • Sexual function.

Urinary and Genital System Anatomy and Physiology

The urinary tract is one of the systems responsible for filtering and excreting waste from the body. It consists of the:

  • Bladder: the organ that collects and stores urine from the kidneys until it is excreted
  • Kidneys: organs that filter fluid and waste from the body
  • Ureters: tubes connecting the kidneys to the bladder
  • Urethra: the tube by which urine travels from the bladder out of the body.

During typical development, male and female genitals begin as similar fetal tissue, and differentiate on exposure to hormones in the womb. High testosterone levels in the womb lead to the development of male genitalia, including the penile urethra, the penis and the scrotum.

Low or absent levels of testosterone lead to development of female genitalia, which include the clitoris, the labia majora and separate urethral and vaginal canals.

Abnormalities of the Genital and Urinary Tract Systems

Congenital defects in the urinary tract result from abnormal formations of the urinary system’s structures. One example is a congenital kidney malformation, causing difficulty in filtering excess fluid and wastes from the body. Problems with the urinary system cause difficulty emptying urine from the body, leading to infection.

Genital birth defects usually result from abnormal levels of sex hormones present during fetal development. These conditions may result in development of ambiguous genitalia.

Congenital defects affecting the genitals and urinary tract include:

  • Ambiguous Genitals: development of genitals that appear intermediate between male and female genitalia
  • Bladder Exstrophy: development of part of the bladder outside the body
  • Hydronephrosis: blockages of the urethra or its connections to the kidney or bladder, causing a buildup of urine in the kidneys
  • Hypospadias: in males, abnormal formation of the urethra on the underside of the penis rather than at the tip
  • Renal Agenesis: a congenital kidney defect involving failure of one or both kidneys to develop.

These conditions may be diagnosed through prenatal ultrasound, or after birth using ultrasound or CT scanning.

Treatment of Birth Defects Affecting the Genitals and Urinary Tract

The treatment of congenital abnormalities affecting the urinary tract depends on the structure affected, and the severity of the defect. The kidneys and urinary tract system consist of paired structures; if one is affected, the other structure can often compensate. However, in the case of bilateral defects, surgical treatment is often required.

Treatment of genital birth defects can be complex. The genitals may be surgically corrected to restore urinary, reproductive and sexual function, but the choice to perform surgery may involve assigning a gender to a baby with ambiguous anatomy. This can be difficult, as parents and doctors have to decide what is in the best interest of the child.


Better Health Channel. (n.d.). Birth defects—urinary system. Retrieved April 18, 2010, from:

Merck. (n.d.). Genital defects. Retrieved April 18, 2010, from:

Merck. (n.d.). Urinary tract defects.Retrieved April 18, 2010, from:

March of Dimes. (n.d.). Genital and urinary tract defects.Retrieved April 18, 2010, from: