Ambiguous genitalia- a mystery of gender

Parents wait eagerly for approximately 9 months to know if they have a beautiful princess or a handsome prince. But when the baby’s gender cannot be distinguished as a girl or a boy at birth, their happiness can be shattered...

This mystery of gender is medically known as Ambiguous genitalia. In this disorder, the baby’sprivateparts may be underdeveloped or sometimes have the characteristics of both male and female.

How does a baby develop a problem with gender identification?

Gender identification problem can result from a defect inthe process of development of sex organs before birth.Normally, the babies who have inherited“XX” sex chromosomes from parents will become a girl and those with “XY” will be a boy. A girl’s private parts develop in absence of androgens (hormone)and Y chromosome,whereas a boy’s private partsdevelop in response to Y chromosome and presence of androgens.In ambiguous genitalia, the baby may have defects in the sex chromosome or the absence or presence of androgens.

How does a baby with a problem of gender identification appear?

A baby who has genes of a boy may havea very small penis (resembling a clitoris of a normal female) with undescended testes into the scrotum (a sac that contains the testes) which gives it a look like a false-labia (inner and outer folds on either side of vagina) or absence of one testis in the scrotum. Whereas,a baby who has genes of a girl child,can havean enlarged clitoris which looks like a small penis or presence of a closed labia resembling a scrotum.

What are my child’s chances of developing ambiguous genitalia?

Ambiguous genitalia usually run in the families as the defect in the sex chromosome is inherited from the parents. Your baby may be at risk, if you have a family history of any of the following:

  • Sudden deaths in infancy

  • Infertility, no menstrual periods, or excessive facial hair in females

  • Genital defects

  • Abnormal physical development during puberty like lack of breast development

  • Congenital adrenal hyperplasia (inherited disorder that causes the adrenal glands to produce excessive male hormone)

If you have any of the above, seek medical advice and genetic counselling before becoming pregnant.

How do doctors detect gender of a baby with ambiguous genitalia?

When a baby is born with ambiguous genitalia, the doctor physically examines your baby’s genital area and reviews your medical history as well as your family history of any unexplained deaths as an infant, genital defects or congenital adrenal hyperplasia (CAH). If you have a family history of any of these conditions, the doctor may recommend screening tests for CAH, blood tests for male and female hormones or sex chromosomes and a biopsy (taking a small sample) of the reproductive organs.

Other diagnostic tests may include–an imaging test like a pelvic ultrasound to confirm the presence of female reproductive organs, a genito-urethrogram to know if the urethra and vagina are present and a chromosomal analysis test which helps identify genetic sex either as “XX” or “XY”.

Will the treatment of ambiguous genitalia help my baby?

If your baby is treated for ambiguous genitalia, it will help your baby with his/her identity and alsouplift their emotional wellbeing. It begins after a thorough diagnostic process like imaging test to view the presence of internal female sex organs in relationto external private parts, or a blood test to know the hormonal levels, or to confirm any underlying cause, if any.

The available treatment options of ambiguous genitalia may include medications such as a hormone replacement therapy (HRT) to correct the hormonal imbalance or a surgery to remove or create appropriate private parts and improve ability to reproduce or become pregnant.Parents can take part in decision making of the treatment and choose an appropriate treatment for their child. Sometimes, the treatment may be postponed until the child is mature enough to decide about the choice of gender.

Can a girl child with ambiguous genitalia become pregnant when she grows up?

A girl child with ambiguous genitalia hasenlarged clitoris resembling a small penis or a closedlabia resembling a scrotum. These defects do not mean that all girl child’s with ambiguous genital are incapable of becoming pregnant or have difficulty in pregnancy, when they grow up. Some girls with ambiguous genitalia have normal and functional internal sex organs (fallopian tube, uterus and ovary) and can become pregnant.

My daughter has been diagnosed with ambiguous genitalia. Is clitoral surgery a good option for my daughter? Is there any alternative?

When a girl child with ambiguous genitalia has an enlarged clitoris resembling a small penis, doctors usually suggest a corrective surgery called clitoral surgery. The clitoral surgery has advanced in many ways, but it cannot guarantee a normal sexual life for females and may also damage the nerves that affect sexual pleasure in adulthood. Hormonal replacement therapy can be used as an alternative, when the clitoris is slightly enlarged due to moderate rise of androgens (male sex hormones). This therapy helps reduce the size of the clitoris by maintaining proper levels of hormones and is usually started before adolescence.

What is transgender?

Transgender refer to the people whose gender identity is different from the gender assigned at birth. Gender identity refers to a person’s internal sense of belonging to a sex. Transgenders do not identify with their biological sex.

Who is a homosexual?

A homosexual is a person who is romantically and sexually attracted to their same sex. A gay is a homosexual man; a man who is attracted to another men. A lesbian is a homosexual woman; a woman who is attracted to other women.

How are transgender, homosexual and people with ambiguous genitalia different?

Every person has a biological sex and perceived gender identity. A transgender person do not conform to the biological sex as they have a different gender identity. For eg: A man identifies as a woman. A homosexual person has a different sexual orientation. For eg: A man identifies as a man but is sexually/ romantically attracted to another man. Ambiguous genitalia refers to a condition in which the biological sex organs are not developed at birth, or the genitalia has both male and female parts. Thus, the biological sex of the child is not clear.