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Ambiguous Genitalia


What do you mean by Ambiguous genitalia?

Ambiguous genitalia is a rare birth defect in which an infant’s external genitals don’t depict clearly whether male or female. In such babies, the genitals are not formed properly and one may have characteristics of both male & female.

What causes Ambiguous genitalia?

There are various factors that can cause Ambiguous genitalia, namely:

  • Pseudohermaphroditism – one has genitalia of male/female but physical characteristics of the opposite sex
  • True hermaphroditism – the presence of tissues both from ovaries & testicles
  • Mixed gonadal dysgenesis – the presence of some male structures and some female structures
  • Congenital adrenal hyperplasia
  • Chromosomal abnormalities
  • Intake of certain medication like androgenic steroids by a mother results in genetic female looking more like male
  • Lack of certain hormones in the body
  • Lack of testosterone cellular receptor
What are the symptoms of Ambiguous Genitalia?

The symptoms of Ambiguous genitalia in babies who are genetically female:

  • Enlarged clitoris
  • Closed labia
  • Lumps that feel like testes in fused labia

The symptoms of Ambiguous genitalia in babies who are genetically male:

  • Urethra doesn’t properly extend to the tip of the penis
  • The penis is abnormally small with urethral opening very close to the scrotum
  • Absence of either one or both testicles
  • Undescended testicles and empty scrotum that looks like labia
How can Ambiguous genitalia be treated?

Ambiguous genitalia can be treated by:

  • Hormone medications
  • Surgery to preserve normal sexual function or make the genitals look more natural