Ambiguous Genitalia

Ambiguous genitalia is a condition in which an infant's gender is not clear because the genitals do not appear to be male or female.

During pregnancy, the fetus has tissue that will become ovaries or testicles. The 23rd pair of chromosomes determines which gender the baby will be. A normal female is written as 46,XX and a normal male is written as 46, XY because normal developing humans have 46 total chromosomes. Females have two X chromosomes and males have one X and one Y chromosome.

If your child is born with this condition, the doctor will thoroughly examine their genitalia and will likely order additional testing. Hormone studies, chromosomal analysis, pelvic ultrasounds and biopsies of the reproductive organs are common.

Treatment generally consists of surgery and hormone replacement therapy.