Androgen Insensitivity Syndrome

Androgen insensitivity syndrome affects a child’s sexual development before birth and during puberty. People with this syndrome are born with the physical traits of a female but are genetically male.

There are two types of androgen insensitivity syndrome: complete and partial.

Babies with complete androgen insensitivity syndrome appear female at birth but don’t have a uterus, ovaries or fallopian tubes. Testicles are hidden inside the pelvis or abdomen. These children typically have a female gender identity and are raised as girls. In many cases, they aren’t diagnosed until they fail to menstruate.

Babies with partial androgen insensitivity syndrome may be born with sexual characteristics typical of a male, a female or both. They may have a male or female gender identity.

Causes

Androgen insensitivity is a genetic condition passed down by the mother.

Signs and Symptoms

In cases of partial androgen insensitivity, ambiguous genitalia is the primary symptom.

Symptoms of complete androgen insensitivity include:

  • No menstrual cycle
  • Normal breast development with minimal pubic and armpit hair
  • Lumps in the groin or abdomen (which are testes)

Diagnosis

Complete androgen insensitivity typically is discovered at puberty, when menstruation fails to occur. A child might be diagnosed when a growth is felt in the abdomen and surgery reveals it is a testicle.

Partial androgen insensitivity usually is discovered at birth because the external genitals aren’t clearly male or female (ambiguous genitalia).

The process of diagnosis starts with a thorough medical history and physical exam. Tests may include:

  • Blood work to check hormone levels
  • Genetic testing
  • Pelvic ultrasound or MRI

Treatment

For complete androgen insensitivity, our team may prescribe estrogen replacement therapy. Undescended testicles can be surgically removed. Vaginal dilators may eventually be recommended to lengthen the vagina.

For partial androgen insensitivity, gender assignment surgery can be performed to match your child’s gender identity. Hormone therapy might also be needed.

Treatment and gender assignment is complex, and our team of experts understands each case is unique. In addition to treating the condition, we can provide counseling and support for your child and your entire family.

Gynecology – 1750

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