A hand holds a model of DNA.

Turner Syndrome Care

Turner Syndrome Care

Helping Women Live Well with Turner Syndrome 

Turner syndrome is the most common chromosomal disorder affecting women. It can impact growth, puberty, fertility, heart health, hearing and other areas of overall wellness. Because Turner syndrome may involve multiple body systems, ongoing care and monitoring are important throughout the life span. 

At Keck Medicine of USC, we have expertise in the latest Turner syndrome guidelines and treatment recommendations. We work across specialties to help women manage their health, reduce the risk of complications and maintain independence at every stage of life. 

What Is Turner Syndrome? 

Turner syndrome is a genetic condition that only affects women. It occurs when one of the X chromosomes is partially or completely missing. This change happens spontaneously at conception, not because of anything a parent did before or during pregnancy. 

Symptoms of Turner Syndrome 

Turner syndrome can look different from one person to another. Some girls show signs before birth or early in life. Others may not notice changes until later childhood, adolescence or even adulthood.  

If your baby has Turner syndrome, a prenatal ultrasound may show: 

  • Fluid build-up on the sides and around the back of the neck 
  • Heart issues 
  • Kidney issues 

After birth, common Turner syndrome symptoms include: 

  • Heart issues, including narrowing of the aorta 
  • Short, wide, or webbed neck 
  • Swollen hands and feet 
  • Arms that angle outward at the elbows 
  • Broad chest with widely spaced nipples 
  • Earlobes that sit lower on the head than usual 
  • Low hairline on the back of the neck 
  • Short fingers and toes 
  • Small or recessed lower jaw 

Girls with Turner syndrome often grow and develop more slowly than their peers. They may have: 

  • Short stature (almost always) 
  • Delayed or absent puberty (no breast development and/or menstrual periods) 
  • Infertility 
  • Low levels of sex hormones (estrogen) 
  • Smaller ovaries that don’t function properly 

How We Diagnose Turner Syndrome 

Some patients receive a Turner syndrome diagnosis before birth through prenatal genetic testing. Others are diagnosed at birth or during childhood as symptoms become more apparent. In rare cases, the diagnosis does not occur until adulthood during an evaluation for infertility.  

If need be, we will confirm a Turner syndrome diagnosis through genetic testing, usually a chromosomal karyotype or chromosomal microarray. These tests allow us to view chromosomes in detail. 

Health Risks Associated with Turner Syndrome 

People with Turner syndrome often have a higher risk of developing certain health conditions. Our team uses advanced laboratory testing and imaging to detect changes early and guide treatment. You may need an echocardiogram, cardiac MRI, bone density scan (DEXA), hearing evaluation or other specialized screening tests as part of your care.  

We commonly monitor for: 

Turner Syndrome Treatments We Offer 

There is no cure for Turner syndrome, but ongoing medical care can help manage symptoms and improve quality of life.  

In childhood, treatment focuses on hormone therapy to promote puberty and growth. We recommend other treatments as needed based on your age, symptoms and overall health. Your management plan may include: 

Our multidisciplinary team coordinates your care across departments. You can receive comprehensive management in one convenient location. 

California’s Only Adult Turner Syndrome Program

As California’s only adult multidisciplinary Turner syndrome program, we offer specialized expertise that is not offered elsewhere.

We help patients navigate the transition from pediatric to adult care, a time when Turner syndrome resources can be difficult to find.

You work with specialists who understand the unique health needs of women with Turner syndrome and follow the latest care recommendations.

Your team includes experts in endocrinology, cardiology, genetics, reproductive health and more.

You can meet with multiple specialists during a single appointment, making it easier to coordinate care and manage your health.

Our program serves as a foundation for future research and advancements in the care of adult women with Turner syndrome.

A genetic counselor treats a woman with Turner Syndrome.

Support and Educational Resources 

Patients and families may find it helpful to explore trusted educational resources and support organizations dedicated to Turner syndrome, including: