Differences of sex development
Sometimes a child’s chromosomes, hormones, reproductive organs, or anatomy develop differently than expected. Our DSD team provides answers, coordinated care, and ongoing support to help families understand their child’s unique development while honoring their name, pronouns, and preferences.
Supporting healthy growth and development
Differences in sex development (DSD) can affect how a child's reproductive anatomy, chromosomes, or hormones develop. Families often have questions about what these differences mean now and in the future. Our DSD team provides expert medical care, clear information, and ongoing support to help children and teens stay healthy while giving families the guidance they need at every stage.
Understanding differences, supporting futures
Our multidisciplinary team includes specialists in urology, endocrinology, gynecology, genetics, psychology, and genetic counseling, providing expert, compassionate care to support healthy growth, development, and lifelong well-being.
Care that respects every child
We create a welcoming environment where children, teens, and families feel heard, supported, and involved in care decisions.
Shared decisions, never rushed
We provide clear information and guidance so families can make informed decisions at a pace that feels right for them.
One team. One coordinated plan.
Multiple specialists work together, often in a single visit, resulting in fewer appointments and a comprehensive plan that makes sense.
Conditions we support
We support variations in chromosomes, gonads (testes/ovaries), hormones, or reproductive anatomy, such as:
- 45,X/46,XY mosaicism: 45,X/46,XY mosaicism is a chromosome variation in which some cells have one X chromosome while others have both an X and a Y chromosome. It can affect growth, puberty, hormone production, fertility, and reproductive development.
- 47,XXY (Klinefelter syndrome): Klinefelter syndrome (47,XXY) is a chromosome condition that occurs when a child is born with an extra X chromosome. It can affect growth, puberty, hormone production, fertility, and sometimes learning or language development.
- 48,XXYY syndrome: 48,XXYY syndrome is a rare chromosome condition caused by two extra sex chromosomes. It may affect growth, development, puberty, hormone production, fertility, learning, and behavior.
- Other chromosome differences: Other chromosome differences involve less common variations in the X and Y chromosomes. Depending on the specific condition, they may affect growth, puberty, hormone production, fertility, reproductive development, or learning and development.
Congenital adrenal hyperplasia (CAH) is a genetic condition that affects how the adrenal glands make important hormones. These hormones help regulate growth, development, stress response, and the body's salt and fluid balance. Depending on the type and severity of congenital adrenal hyperplasia, children may need ongoing monitoring, medications, and support throughout childhood and adolescence.
Androgen insensitivity syndrome (AIS) occurs when the body responds differently to androgens, hormones that play an important role in sexual development. Because the body processes these hormones differently, children with androgen insensitivity syndrome may experience differences in reproductive development, physical development, or puberty.
Gonadal dysgenesis is a group of conditions in which the ovaries or testes do not develop typically before birth. These conditions can affect hormone production, puberty, fertility, and long-term reproductive health. Our team provides ongoing evaluation, treatment, and support tailored to each child's needs.
5-alpha-reductase deficiency and other enzyme deficiencies affect how the body makes, converts, or uses certain hormones. These conditions can influence the development of reproductive organs before birth and may become more noticeable during puberty as hormone levels change.
Ovotesticular DSD and testicular DSD are conditions that involve differences in the development of reproductive tissues, including the ovaries or testes. Some children with ovotesticular DSD may have both ovarian and testicular tissue, while children with testicular DSD may have differences in testicular development or function. These conditions can affect hormone production, puberty, and reproductive health.
Female and male reproductive tract differences are conditions that affect the development of the uterus, vagina, cervix, fallopian tubes, testes, penis, or other reproductive structures. These differences may be identified before birth, during childhood, or later during adolescence when concerns arise related to puberty, menstruation, fertility, or reproductive health. Our team provides evaluation, education, and treatment options tailored to each child.
Turner syndrome care
Our Turner syndrome program provides coordinated, multidisciplinary care for children and teens with Turner syndrome. Specialists work together to support growth, puberty, reproductive health, heart and kidney health, learning and developmental needs, and long-term wellness. We partner with families through every stage of childhood and adolescence to help each child thrive.
Our services and care
Our team provides child-centered care that respects your child's needs, goals, and developmental stage.
Evaluation with genetics, labs, imaging, and exams
Hormone support and puberty planning
Fertility counseling and preservation options
Surgical consultation with a no-pressure approach
Psychology, social work, and peer support
School, sports, and activity guidance
Life planning (letters, care plans, pain/period support)
Coordinated care across specialties
Transition support to adult care
What to expect
- First visit: Gentle history, review of prior tests, and a discussion about you/your child’s goals of care and expectations. Exams and imaging will be suggested only when needed and after consent/assent.
- Our team will provide you with a plan: Plain-language recommendations, written next steps, and direct contact information.
- Follow-up: Ongoing medical and emotional support; we revisit choices as you/your child grows.
- When procedures and interventions are considered: We spend as much time as our patients and families need discussing potential benefits, risks/harms, timing, and alternatives. We also consult with our ethics partners when necessary. Psychologists are present to help work through barriers and support the parents and children’s clinical decision(s).
National recognition
Intermountain Primary Children's Hospital is ranked by U.S. News & World Report as one of the nation's best children's hospitals in 11 of 11 pediatric specialties, including urology.
Our locations
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).
