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 DSD at Primary Children's
Differences in sex development (DSD) are a group of conditions where a child's chromosomes, hormones, reproductive organs, or anatomy develop differently than expected. Some differences are identified before birth or at birth, while others become apparent during childhood or puberty. Every child is unique, and our team provides individualized evaluation, education, and ongoing support.
Our multidisciplinary team provides comprehensive, personalized care for children, teens, and families. Depending on your child's needs, services may include:
- When possible, and given the child’s developmental age, we aim to include the child in making medical, surgical, and psychological decisions
- Comprehensive yet tailored evaluation: genetics, endocrine labs, imaging, and child-centered exams only when needed
- Hormone support and puberty planning
- Fertility counseling and preservation options, when appropriate
- Surgical consultation for medically necessary or elective procedures, with a careful, no-pressure approach that aims to incorporate the child’s goals
- Psychosocial care: dedicated psychology, social work, and peer support connections for patients and parents
- School, sports, and life planning (letters, care plans, pain/period management, activity guidance)
- Care coordination with Primary Care, Urology, Pediatric & Adolescent Gynecology, Endocrinology, Genetics, and Psychology
- Support for teens and young adults transitioning to adult care
- A parent peer support volunteer (parent of a child with a DSD) is also available in clinic to meet with parents and patients. This valuable resource allows parents and patients to speak to someone who has gone through something similar to their situation.
A child may benefit from evaluation if there are questions about reproductive anatomy, chromosomes, hormone levels, delayed or early puberty, irregular menstruation, or unexpected findings on prenatal testing. Our team works with families to understand the cause of these differences and develop a personalized care plan.
Your first visit typically includes a review of your child's medical history, previous testing, and your family's questions and goals. Additional testing, imaging, or exams are only recommended when needed and are completed with your child's and family's consent. We explain every step so families can make informed decisions.
Not always. Many children with differences in sex development never need surgery. When surgery is an option, our team carefully reviews the benefits, risks, alternatives, and timing with your family. We support thoughtful, shared decision-making without pressure, allowing families to make informed choices at a pace that feels right.
Our specialists monitor growth and development over time and create individualized hormone and puberty plans when needed. We work closely with families to support physical health, emotional well-being, and healthy development throughout adolescence.
Fertility depends on your child's specific diagnosis. Some children may have fertility options available now or in the future, while others may benefit from fertility preservation before certain treatments. Our team provides counseling and guidance so families understand their options and can plan for the future.
Learning that your child has a difference of sex development (DSD) can bring up many questions. In addition to the care and support you receive from our team, these trusted organizations provide educational resources, family support, and opportunities to connect with others who have shared similar experiences.
- Accord Alliance– Lend a Helping Hand Resource Guide: A guide to help families better understand DSD and find reliable information and support.
- DSD Families: Information, resources, and support designed for parents and caregivers of children with DSD.
- DSD Teens: Resources created specifically for teens and young adults living with DSD.
- CARES Foundation: Education, advocacy, and support for individuals and families affected by congenital adrenal hyperplasia (CAH).
