Ambiguous Genitalia

Ambiguous genitalia

It is a condition in which the baby’s external genitalia does not match to any gender or external genitalia is different from the internal genitalia. It is an ambiguous condition because external genitalia does not match with female or male genitalia. Ambiguous genitalia clearly seen at birth or after some time.


Genetically female babies have following signs:Ambiguous Genitalia Symptoms Causes Treatment

  • Enlarged clitoris
  • Testes like mass in labia majora
  • Closed labia give the scrotum like appearancs

 genetically male babies have following signs:

  • Small penis resemble with the clitoris
  • Urethra doesn’t fully extend
  • Testes still in abdomen(undescended testes)

Hormonal disturbance during pregnancy causes this condition to the fetus. Causes includes:

  • Lack of male hormone in genetically male fetus cause the ambiguous genitalia
  • Mutations during genital development
  • Missing chromosomal abnormality cause the ambiguous genitalia
  • In genetically female child increase adrenal hormone sometimes cause ambiguous genitalia
  • Exposure of certain also the risk factor

Complications include:

  • People with ambiguous genitalia have a higher risk of developed certain malignant tumors.
  • Most often people with ambiguous genitalia are infertile.

The diagnosis of ambiguous genitalia is made at the hospital shortly after birth.

Causes can be determined by followings tests:

  • Blood test to check the hormones
  • Imaging test to check any abnormality inside the body
  • Blood tests to check the chromosomes

First of all, it is necessary to choose the gender of the baby then your doctor will give you treatment options which include:

  • To give the normal appearance of the external genitalia and retain the normal sexual function.
  • Medications: to correct the hormonal imbalance
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