Androgen Insensitivity Syndrome

Norton Children’s Gynecology, affiliated with the UofL School of Medicine, is the only practice in Kentucky, Louisville and Southern Indiana dedicated to pediatric gynecological care. Our board-certified physicians are trained to treat androgen insensitivity with the sensitivity that children, teens and parents need.

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

Contact Us

Schedule an appointment with a pediatric and adolescent gynecologist.

(502) 559-1750


Download Patient Packet

Neonatologist champions follow-up clinic for NICU graduates

When Hannah R. Fischer, M.D., neonatologist with Norton Children’s Neonatology, affiliated with the UofL School of Medicine, was doing her pediatric residency, it was in the neonatal intensive care unit (NICU) where she found her […]

Read Full Story

Twin gets pacemaker for congenital heart block

The Jackson family discovered the first surprise of their second pregnancy at their scheduled 14-week appointment: They were having twin boys. A few days before Christmas 2017, the family went for the 20-week anatomy scan, […]

Read Full Story

Plenty of allergens and severe weather can mean thunderstorm asthma

Warm temperatures in Louisville and Southern Indiana bring severe weather and a jump in allergens like pollen. For some, that may mean a risk of “thunderstorm asthma.” Thunderstorm asthma occurs when strong winds and rain […]

Read Full Story

When should I take my child to the hospital?

You’re not alone if you’ve wondered “When should I take my child to the hospital?” after your child has experienced an illness or injury. Having that kind of doubt is OK; no parent likes to […]

Read Full Story

Kentucky’s child abuse rate outranks rest of country for third year in row; Indiana leads nation in deaths

For the third year in a row, Kentucky has the highest child abuse rate in the country. The U.S. Department of Health & Human Services Children’s Bureau “Child Maltreatment 2019” report — released this year […]

Read Full Story

Search our entire site.