Gonadal Dysgenesis

Gonadal dysgenesis is one of the more common causes of ambiguous genitalia in newborns. This genetic condition occurs when a female child does not have the usual pair of two X (female) chromosomes.

Children with gonadal dysgenesis have:

  • An undeveloped gonad
  • internal sex organs that are usually female
  • external genitals that may vary between normal female and normal male, with the majority female

Other outward signs of gonadal dysgenesis may include:

  • Swollen hands or feet as an infant
  • Wide and webbed neck as an infant
  • Sparse pubic hair and small breasts at puberty
  • Drooping eyelids and dry eyes
  • Lack of menstruation
  • Short height
  • Vaginal dryness

In pure gonadal dysgenesis, a female child will have:

  • Underdeveloped gonads
  • Internal female reproductive organ
  • Female external genitalia

Treatment is available to help children grow taller through estrogen therapy. This therapy also helps trigger more normal sexual development at puberty, including the growth of breasts and pubic hair.

North Shore-LIJ gynecologists are experienced in the diagnosis and treatment of gonadal dysgenesis. For more information on gonadal dysgenesis or to schedule a consultation, please contact the Division of Pediatric and Adolescent Gynecology at Cohen Children’s Medical Center of New York at 516-390-9258.  For an emergency call 911 or go to the Cohen Children's Medical Center Emergency Room.

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