Ambiguous Genitalia (Disorders of Sexual Development), Pediatric

J. Nina Ham, MD Reviewed 10/2018
 


BASICS

DESCRIPTION

  • Genital ambiguity occurs when it is not possible to categorize the gender of the child based on outward genital appearance.

  • Can result from various disorders of sexual development (DS...

DIAGNOSIS

  • Genital ambiguity 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 a...

TREATMENT

GENERAL MEASURES

  • Emphasis is on patient-centered care.

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

  • Counsel family to not make announceme...

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 on OvidInsights]

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

CODES

ICD9

  • 752.7 Indeterminate sex and pseudohermaphroditism

  • 255.2 Adrenogenital disorders

ICD10

  • Q56.4 Indeterminate sex, unspecified

  • E25.0 Congenital adrenogenital disorders assoc w enzyme deficiency

  • Q56.3...

FAQ

  • 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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