Urology
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Determining a Child's Sex
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When a child's genitalia appears atypical at birth, the CHOC Children's Center Urology Center Disorders of Sexual Differentiation Program team immediately becomes part of the child's care. Usually the first provider from the team that the family will meet is the endocrinologist or geneticist. These specialists conduct both a medical history and a physical examination of the child's external genitalia. The medical history will include the mother's health during pregnancy and a family history of any neonatal deaths or genital abnormalities. This will likely allow the geneticist and endocrinologist to make a diagnosis of the underlying cause of the disorder. Diagnostic procedures may include a newborn screening test for CAH, hormonal studies (blood test) and an ultrasound.
To determine the child's sex, physicians will consider the following:
- A pelvic ultrasound or cystoscopy (or vaginoscopy) to check for the presence of female reproductive organs.
- A genitourethrogram to look at the urethra and vagina, if present.
- A chromosomal analysis called a karyotype that helps determine the genetic sex of the child (46, XX or 46, XY or another variation).
- Evaluation of SRY gene on the Y chromosome.
- Fertility potential.
- The ability of an internal reproductive organ to produce appropriate sex hormones.
- Risk of future health conditions (i.e., cancer) that may develop in the original reproductive organs later in life.
- The actions of male or female hormones on the fetal brain.
- Social, cultural and ethical concerns.
- The family’s opinion and/or preferences.
Children's Hospital of Orange County | 
University of California, IrvineChildren's Hospital of Orange County is affiliated with UC Irvine Healthcare and UC Irvine School of Medicine
