• ambiguous external genitalia
• genitalia that do not match the genetic make-up of the person (example: female genitalia in a genetically male individual)

• congenital adrenal hyperplasia
• fetal exposure to sex hormones
• testicular feminization syndrome
• XY gonadal dysgenesis
• XY gonadal agenesis
• chromosomal abnormalities
  • cryptophthalmos
  • Smith-Lemli-Opitz
  • 4p syndrome
  • 13q syndrome

• ambiguous genitalia at birth
• unusual appearing genitalia at birth

• chromosome analysis
• hormone levels (for example, testosterone level)
• endoscopic examination (to verify the absence or presence of a vagina or cervix)
• ultrasound to evaluate whether internal sex organs are present (for example, a uterus)

The family of the infant needs to be informed of the child's condition as early as possible. It is a very sensitive time, requiring compassion and guidance to avoid feelings of guilt, shame, or discomfort.

Early assignment of the sex is important for the emotional well being of the person. In large part, the decision is based on the corrective potential of the ambiguous genitalia, rather than on chromosomal determinants. The initial care should include a team of professionals that include neonatologists and pediatric specialists, endocrinologists, radiologists, urologists, psychologists, and geneticists.

All of these specialists will focus on what is in the best interest of the child and family. Once the decision is made regarding sex, parents should be left with no ambiguity in their minds as to the gender of the child.

Corrective surgery is used to reconstruct the external genitalia. In general, it is easier to reconstruct female genitalia than male genitalia, and the ease of reconstruction will play a role in the determination of sex.