Androgen Insensitivity Syndrome

What to Expect from Utero to Adulthood

Conception

Babies with Androgen Insensitivity Syndrome inherit a genetic mutation on the X chromosome from their mother. This mutation causes a deletion of the androgen receptor gene (source). Before there is even a heartbeat, while the baby is still just a zygote, the baby has complete androgen insensitivity syndrome and the androgen receptors will not understand androgen hormones (source).

What Are Androgens? (source) (a list)

  • testosterone - developing the secondary sex characteristics in men.

  • dihydrotestosterone (DHT) - in the developing embryo is what causes the formation of the penis, scrotum, and prostate

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In Utero

Gonads look the same between male and female. At the 5th week, they begin to differentiate between the sexes. (source). Up until about the 7th week, the difference between male and female gonads are imperceptible (source).

The testes start producing androgens like testosterone, but our CAIS bodies don’t have the androgen receptor. This means that there will be no formation of a penis, prostate, scrotum, spermogenizsis, or any male secondary sex characteristics.

There is also the antimüllerian hormone. This hormone stops the creation of the uterus, ovaries, and the fallopian tubes. (source)

Are you keeping track? That leaves people with CAIS with:

  • Estrogen “Aromatased” from Testosterone

  • “Female” external Genitals including the clitoris, vulva, and the lower vaginal canal.

  • Testes without sperm in the inguinal canal making androgens our bodies can’t understand.

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Childhood

Inguinal Canal Hernia. There are many reasons why a child, male, female, or intersex, could get an inguinal canal hernia. These hernias are also really common with a lot of intersex conditions.

With CAIS and PAIS, an inguinal canal hernia happens when there is a weakening in the pelvic floor, and children with this hernia should have their karyotype tested to see if they have XY chromosomes and are 46 XY Female (source).

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Teenagers

HRT if had Gonadectomy

If a gonadectomy was performed before becoming a teenager, during adolescence is when hormone replacement therapy would begin to induce puberty (source).

Begin Dilation

Before someone with complete androgen insensitivity syndrome is ready to be sexually active, it is a good idea to begin dilation to “normalize” the vaginal length (source).

Begin Therapy

Women with CAIS have been noted to feel like they have a “compromised womanhood” (source), and in another study, others are “focused on issues of their vaginas functioning” (source). That’s heavy stuff for anyone to deal with, so having someone to talk to helps.

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Adulthood

Gonadectomy / Monitor Testes

As of 2017, the current thinking is to wait for puberty to end, and then have the gonadectomy. Alternatively, you could monitor the gonads bi-annualy for changes (source).

HRT for Bone Density

Testosterone and estrogen are both used for bone density for males and females respectively, but for people with CAIS, they do not get enough of either hormone to have proper bone density. That means people with AIS are at risk for osteopenia and osteoporosis. Hormone Replacement Therapy with estrogen, which usually begins after a gonadectomy, actually helps with bone density. Hormone therapy does not fix damage that is done, but it can prevent further damage. (resource)

Additional Complications

Adults with AIS should be on the alert for: (source)

  • Cardiovascular Disease

  • Obesity

  • Diabetes

  • Psychiatric Disorders

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