Turner syndrome care
Our Turner syndrome specialists provide expert, coordinated care for your child—supporting growth, development, reproductive health, and lifelong wellness at every stage.
Expert care for the many ways Turner syndrome affects kids
What is Turner syndrome?
Turner syndrome is a genetic condition that occurs when a girl is born with a difference involving one of her X chromosomes. This may mean she is missing an entire X chromosome (monosomy X), missing part of an X chromosome, or has a mixture of cells with different chromosome patterns (mosaic Turner syndrome). Turner syndrome can affect growth, ovarian function, puberty, fertility, and the development of certain organs, including the heart and kidneys. Every child is different and care must be individualized for each child.
Turner syndrome symptoms & health concerns
Turner syndrome symptoms can vary widely. Your care team will monitor and support your child’s unique needs.
Most children with Turner syndrome grow more slowly than their peers and may be shorter than expected for their age. For some families, concerns about height or growth are what first lead to an evaluation that leads to a Turner syndrome diagnosis. Your care team may recommend growth hormone therapy as part of a personalized Turner syndrome treatment plan to support healthy growth and development.
Many girls with Turner syndrome do not start puberty on their own or may experience delayed development or amenorrhea (not having menstrual periods). Hormone therapy can help support puberty, bone health, and overall development in a way that feels right for your child and family.
Turner syndrome can affect ovarian function and future fertility. While every child’s experience is different, early conversations and long-term planning can help families better understand future family building options and support.
Certain heart differences are more common in children with Turner syndrome, including conditions involving the aorta (the body's main artery that carries blood from the heart to the rest of the body) or heart valves. Regular heart screenings and follow-up care help monitor your child’s heart health over time.
Children with Turner syndrome may experience frequent ear infections, hearing loss, or other hearing-related concerns. Early monitoring and treatment can help support hearing, speech, learning, and communication.
Some children with Turner syndrome are born with differences in the kidneys or urinary tract. These differences may increase the risk of urinary tract infections or other concerns, which is why monitoring kidney and urinary health is an important part of care.
Many girls with Turner syndrome may experience challenges with attention, math, spatial reasoning, organization, and social skills. Early support at school and home can help children build confidence and thrive academically and emotionally.
Some girls with Turner syndrome may experience vision or eye-related concerns. Regular eye exams can help monitor vision and support healthy development and learning.
Turner syndrome diagnosis & treatment
From diagnosis through adulthood, here are a few of the ways we support your child’s growth, health, and emotional well-being.
Diagnosing Turner syndrome
Genetic testing
Karyotype analysis
Long-term health management
Growth, puberty & hormone care
Bone health monitoring
Thyroid, celiac & diabetes screening
Whole-child Turner syndrome care
Heart, kidney & urinary monitoring
Cholesterol, liver & related condition screening
Developmental and psychological support
Our locations
Lifelong care
Children with Turner syndrome need ongoing support for growth, puberty, fertility, heart health, kidney health, hearing, vision, and emotional wellness. Regular heart monitoring is especially important because certain heart conditions can develop or change over time. Our pediatric specialists provide coordinated Turner syndrome diagnosis, treatment, and lifelong care to identify and manage health concerns early.
Frequently asked questions
Learn more about Turner syndrome
Turner syndrome is caused by a difference involving one of the X chromosomes that occurs before birth. This may include a missing X chromosome (monosomy X), a missing part of an X chromosome (partial deletion or structural difference), or a mixture of cells with different chromosome patterns (mosaic Turner syndrome). This happens randomly before birth and is not caused by anything a parent did or did not do.
Turner syndrome can cause short stature, delayed puberty, differences in ovarian function that can affect future fertility, heart differences, hearing issues, and kidney or urinary tract differences. Every child experiences Turner syndrome differently.
Turner syndrome is diagnosed through chromosome testing, usually with a blood test called a karyotype analysis. While many children are diagnosed early because of prenatal genetic testing or growth and developmental concerns in childhood, some individuals are not diagnosed until adolescence or adulthood after delayed puberty, infertility, or related health concerns are identified.
Genetic testing and karyotype analysis are commonly used to confirm Turner syndrome and identify chromosome differences associated with the condition.
Pediatric Turner syndrome specialists may include pediatric endocrinologists, cardiologists, nephrologists, genetic counselors, psychologists, audiologists, and other pediatric experts who work together to support long-term health.
Yes. With ongoing medical care and support, many girls and women with Turner syndrome live full, active, and healthy lives.
Many girls and women with Turner syndrome have reduced ovarian function, which can affect fertility. Some may be able to become pregnant, while others may need fertility treatment or alternative family-building options. A thorough heart evaluation is an important part of pregnancy planning, as pregnancy can place extra stress on the heart.
Most people with Turner syndrome live long, healthy lives—especially with regular medical care and monitoring for heart health and other related conditions.
Turner syndrome treatment depends on your child’s specific needs and may include growth hormone therapy, hormone replacement therapy, heart monitoring, hearing support, kidney care, emotional wellness support, and coordinated specialty care.
Care plans are personalized based on your child’s age and health needs. Some children may need regular follow-up visits with multiple specialists, while others may only need periodic monitoring. Individuals with Turner syndrome benefit from ongoing care and monitoring through adulthood, and our team helps families transition care over time so support continues through every stage of life.
Yes. Some cases are identified during pregnancy through prenatal screening or genetic testing. Other children are diagnosed later during infancy, childhood, or adolescence.
Turner syndrome may be diagnosed at different stages of life. Some children are diagnosed before birth through prenatal testing, while others are diagnosed during childhood because of short stature. It may also be diagnosed during adolescence due to delayed puberty or absent menstrual periods (amenorrhea), or in adulthood during an evaluation for infertility.
