children s health issues
Genital Birth Defects
Introduction
Birth defects of the genitals can involve the penis, scrotum, or testes (testicles) in boys and the vagina and labia in girls. Sometimes the genitals are ambiguous, that is, not clearly female or male. Genital defects may be caused by abnormal levels of sex hormones during fetal development, chromosome abnormalities, environmental factors, or inherited factors. Sometimes the genitals are not clearly male or female (ambiguous genitals), which is most common in girls with congenital adrenal hyperplasia. To determine the sex of an infant who has ambiguous genitals, a physical examination, imaging tests, and blood tests to analyze chromosomes and measure hormone levels are done. Many genital defects require surgery. Parents have many factors to consider before assigning a gender to a baby born with ambiguous genitals. (See also Overview of Kidney and Urinary Tract Birth Defects .) 