Ambiguous Genitalia

It is a group of rare disorder where the reproductive organs and genitals do not develop as expected. They can be unclear or ambiguous. The genitals will not resemble either of a girl or a boy. It should be differentiated from transsexualism as ambiguous genitalia is caused due to hormones that change the way of fetal development.


The cause is mainly the way the sex organs form in ambiguous genitalia which differs from the normal process of genital development of male and female genitalia due to the underlying cause respectively:

Cause in genetic females:

  • Congenital adrenal hyperplasia
  • Prenatal exposure to male hormones
  • Tumors

Cause in genetic females:

  • Impaired testicle development
  • Androgen insensitivity syndrome
  • Abnormalities with testes or testosterone.
  • 5-alpha-reductase deficiency


Babies who are genetically female (XX chromosome) may have:

  • An enlarged clitoris that resembles a penis.
  • The labia that is closed and looks like a scrotum
  • The structure that resembles testes is present in the labia

Babies who are genetically male (XY chromosome) may have:

  • The urethral area is not fully extended to the tip of the penis.
  • The penis is quite small and urethral opening closer to the scrotum.
  • Undescended testicles and an empty scrotum that resembles labia with a micropenis.


  • Blood tests to measure hormone levels, genetic sex disorders
  • Ultrasound of the pelvis and abdomen
  • X-ray


  • Counseling FOR PARENTS: parents should be fully informed about the condition of the patient and what options they want to undertake for treatment. It will aa depend on the psychological attitude of the parents and support groups may provide help in this area.
  • SURGERY: there are a lot of assumptions around surgery whether it should be delayed till the child gets old to decide himself the gender assignment or it should be started as early as possible to establish the child’s gender. Surgical gender assignment will purely depend on the parents and the child and what genital structure the surgeons wants to work on either by trimming the clitoris or the undescended testicles relocated into the scrotum.
  • CHILD COUNSELING: it is very important to make the child aware of each and every information on what is happening and about their opinion on the treatment option.
  • HORMONAL THERAPY: it can be given during their teenage years to bring puberty.

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