Ambiguous Genitalia, Pediatric

Sarah Z. Hatab and J. Nina Ham Reviewed 06/2017



  • Genitalia can be defined as ambiguous when it is not possible to categorize the gender of the child based on outward genital appearance.

  • Ambiguous genitalia result from various disord...


  • Ambiguous genitalia in the neonate should be treated as an emergency, and diagnostic evaluation undertaken as soon as possible.

  • CAH, the most common cause of DSD, can be life threatening when...


  • Counsel family to not make announcements describing gender until gender assignment is determined.

  • Medical staff should use terms such as “your child” or “the baby” rather than “he” or “she.”

  • P...

Ongoing Care

Follow-up Recommendations

  • Long-term follow-up may involve monitoring hormone levels, linear growth, and sexual and psychological development.

  • Follow-up also involves monitoring for gonadal ...

Additional Reading

  • Barbaro  M, Wedell  A, Nordenström  A. Disorders of sex development. Semin Fetal Neonatal Med.  2011;16(2):119–127. [View Abstract]

  • Lambert  SM, Vilain  EJ, Kolon  TF. A practic...



  • 752.7 Indeterminate sex and pseudohermaphroditism

  • 255.2 Adrenogenital disorders


  • Q56.4 Indeterminate sex, unspecified

  • E25.0 Congenital adrenogenital disorders assoc w enzyme deficiency

  • Q56....


  • Q: Should a child’s sex assignment be consistent with the karyotype?

  • A: This is a major decision that should involve the family and the treatment team. Future potential for sexual, hormonal, and re...

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