Differences in Sex Development
Seattle Children’s and the University of Washington formed a multidisciplinary team in 1981 to care for children with differences in sex development (DSDs) or congenital adrenal hyperplasia (CAH). This team has become Seattle Children’s DSD Program. It is named a Center of Excellence by the National Institutes of Health.
We use a team approach to diagnose and care for babies, children and adolescents with CAH and all types of DSDs. These include intersex conditions and conditions that affect how genitals develop. The causes may be changes in genes or chromosomes or differences with hormones or with the testicles or ovaries.
Why choose Seattle Children’s DSD Program?
At Seattle Children’s your child will receive care from experienced experts in many medical specialties. Our team:
- Provides compassionate, evidence-based care
- Coordinates your child’s care so it’s easier for your child and family
- Does research to check outcomes and improve care for all kids with DSDs or CAH
- Teaches families and healthcare providers about DSDs and CAH
- Many children with DSDs have complex conditions that most doctors in the community rarely see. These children need care from specialists in many different fields. Seattle Children’s has specialists with the training and experience to diagnose and treat any DSD.
- Our team includes experts from pediatric and reproductive endocrinology, genetics, urology, gynecology and child and adolescent psychology.
- The DSD team meets regularly to discuss each patient’s care. This means your child and family benefit from the expertise of the entire team. Our team members work together closely — and with your family — so your child gets expert care at the right time.
- Based on your child’s unique needs, we work closely with other Seattle Children’s specialists in fields such as cytogenetics, bioethics, maternal and fetal medicine, adolescent medicine, radiology and pediatric surgery.
- Two DSD team coordinators are here to guide your family through your child’s care. A nurse coordinator and scheduling coordinator help you with each step, starting from your first phone call with us.
- DSD clinics are held 2 to 3 times a month. Before we schedule your first visit, we have an intake process to make sure your child will see the right specialists for their condition — urgently, if needed.
- The nurse and scheduler work with your family, the rest of the DSD team and your child’s other doctors at Seattle Children’s to coordinate appointments and treatments. They help everyone here care for your child as a whole person.
- When your child is older and ready to move from pediatric care to adult care, the DSD team helps with the transition. We start talking with teens a couple of years ahead of time to strengthen the knowledge and skills they’ll need to manage their own care. We also connect them with doctors who have experience caring for adults with DSDs and CAH.
- We take time to explain your child’s condition, provide resources and answer all your questions. We help you fully understand your treatment options and make choices that are right for your child and family.
- Our experienced counselors support you as you decide whether it is best to raise your child as a girl, as a boy or in another way, like nonbinary.
- As your child gets older, we include them in decisions about their medical care. Our team can help your family think through choices and challenges at different phases of your child’s life.
- We know how important it is to talk to other parents of children with CAH or DSDs. We can help you connect with other parents.
Conditions We Treat
We care for babies, children and teens with a wide range of DSDs. These include:
Children develop sexually and go through puberty at different ages and different speeds. Some develop more than others. Some develop in ways that are not typical for their sex. If your child develops in ways that are not average, it can be important to look for the reason why. It may be a sign of a condition that can affect your child’s sexuality, fertility or other aspects of their health.
“Ambiguous” means “not certain.” Some newborns have genitals that do not clearly look like those of a typical male or female. Doctors and parents may not be sure if the baby is a boy or girl. There are many reasons why this happens. Examples of ambiguous genitalia include:
- A baby has a penis that is smaller than average (micropenis)
- The hole where pee (urine) comes out is on the underside of the penis instead of the end (hypospadias, PDF)
- A baby has a clitoris that is larger than average
- The flaps of skin outside the vagina (labia) are fused
Our DSD team sees newborns with conditions like these to help find the reason for the condition and to care for and support you and your baby.
Your child’s genitals may look different from what is typical as your child grows and develops — even if they seemed typical earlier in life. Our DSD team sees children and teens at any age whose genitals are not typical. We help to find the reason for the difference and tell whether it may affect your child’s health or well-being. Members of our team also provide support and resources for you and your child. If your child’s condition needs any treatment, we provide this, too.
CAH is the most common condition we treat in the DSD Program. In people with CAH, the adrenal gland makes too much androgen (a sex hormone that is typically most active in males) and not enough of other hormones.
Both girls and boys can have CAH. Girls with CAH may have external genitals that look more like those of a typical boy or appear to be ambiguous (not certain).
The most common cause of CAH is a missing enzyme (21-hydroxylase deficiency). All babies born in the United States are tested for CAH caused by this enzyme not working.
Babies with CAH need hormone treatment. The DSD team can help you understand your baby’s test results and provide treatment they need.
If you or another close family member has CAH, chances may be higher that your baby will have it. Our DSD team can talk with you about your risk, assess your baby if you are pregnant and help you understand the results.
If you or another close family member has an intersex condition (which affects how the genitals form) or another DSD, chances may be higher that you will have a baby with one of these conditions. They are fairly common: About 1 newborn in 1,500 is found to have a DSD. Hypospadias happens even more often.
Doctors and genetic counselors from the DSD Program can talk with you about your risk, assess your baby if you are pregnant and help you understand the results. We can give you information and resources to help support you as you make choices about your family, your pregnancy and any care your baby may need.
A pregnant woman who has genetic tests for her baby may learn the baby has 2 versions of sex chromosomes. Typically, babies have the same version in all their cells — XX for girls and XY for boys. Some babies have 1 version of sex chromosomes in some cells and a different combination in other cells. This is called a mosaic sex chromosome abnormality. Examples are 45,X/46,XY mosaicism and 46,XX/46,XY chimerism. The DSD team can help you understand what this test result might mean for your child.
Most babies have 46 chromosomes in all their cells. Two of the 46 are sex chromosomes. Girls typically have 2 Xs. Boys typically have an X and a Y. Some babies have 1 pair of sex chromosomes (XX for girls or XY for boys) in some cells and a different pair or different number in other cells. This is called a mosaic sex chromosome abnormality. Examples are 45,X/46,XY mosaicism and 46,XX/46,XY chimerism. This may affect how your baby’s external genitalia develop.
If your child’s ovaries do not work as expected, she may have primary ovarian insufficiency (POI). It happens because of problems with the sacs (follicles) in the ovaries, where eggs grow and mature. The ovaries don’t release eggs on a typical schedule. They also don’t make the usual amount of estrogen (a female sex hormone). Estrogen is important in the growth of female physical features, keeping menstrual periods regular and getting pregnant. POI can lead to irregular menstrual periods and infertility or low fertility. It is also called premature ovarian failure.
There are many reasons POI happens, including Turner syndrome. Turner syndrome is a type of gonadal dysgenesis. This means a baby’s ovaries or testicles (gonads) formed abnormally before birth (dysgenesis).
“Amenorrhea” means “lack of menstrual periods.” “Primary amenorrhea” means a girl is 15 or older and has never had a period (the average age for starting periods is around 12). (“Secondary amenorrhea” means a girl had periods in the past, but they stopped.) There are many reasons why this can happen. For example, the ovaries may not be working or the uterus or vagina may not have formed completely.
In hypospadias, the hole where pee (urine) comes out is on the underside of the penis instead of the end. If the hole is close to or in the scrotum, this is called proximal hypospadias. About half of babies with this condition also have a bent penis (chordee). To treat your baby, surgeons move the hole and, if needed, straighten the penis. Read more about hypospadias (PDF).
Some babies with an atypical vagina have androgen insensitivity syndrome (AIS). This means:
- The baby has 1 X chromosome and 1 Y chromosome (typical for boys).
- Their body doesn’t respond to hormones called androgens.
At birth, parents and doctors might identify a baby with AIS as either a girl or a boy based on how the baby’s body looks on the outside. Some children with AIS are raised as girls, and some are raised as boys.
DSDs are not the same as matters of gender identity or being transgender. Seattle Children’s has a Gender Clinic that cares for children, adolescents and young adults:
- Whose gender identity is different from their sex at birth
- Who do not identify with traditional definitions of male or female
Services We Provide
To diagnose your child’s condition, your DSD team at Seattle Children’s starts with a physical exam.
If needed, your child may also get:
- Tests to look for changes in chromosomes, genes or DNA
- Blood tests to measure hormone levels
- Ultrasounds or other imaging studies
- An exam using a small camera that goes inside your child’s body to see their organs (endoscopic and laparoscopic studies)
- An evaluation to tell how your child’s condition is affecting their life (psychosocial assessment)
Children with urgent conditions may stay in the hospital for diagnosis. Others may come to the DSD outpatient clinic.
Seattle Children’s offers a range of options to manage DSDs, plus support to help your family make decisions about your child’s care.
DSDs are lifelong conditions. When we recommend treatment, we focus on:
- What is best for your child’s physical and emotional health
- Keeping the option for your child to have biological children, if possible
- Promoting their ability to have satisfying sexual relationships
- Honestly informing patients and families about the benefits and risks of treatment and the limits of our knowledge about long-term outcomes
Some children need urgent care after birth to treat a condition that threatens their life or health. Other treatments can be safely delayed so a child has time to express their gender identity and be actively involved in choosing treatment options.
The options for your child depend on their condition. Options may include:
- Hormonal therapy
- Nonsurgical treatment (such as vaginal dilation to enlarge the vagina)
- Surgery to improve how the urinary tract or genitals work (surgical reconstruction)
- Psychosocial support
- Long-term follow-up as your child grows and develops
Scheduling an Appointment with the DSD Program
- If you would like an appointment with the DSD Program, you can call us at 206-987-6565 or your primary care provider can send us a referral. This is what will happen next:
- The DSD scheduling coordinator calls you to register your child in our system, if they are not already a patient at Seattle Children’s. We also let you know that we got the referral, if your primary care provider sent one.
- The DSD nurse coordinator reviews the referral and works with the DSD team to decide which specialist your child should see.
- The DSD scheduling coordinator schedules your first appointment. We schedule care urgently if your child needs this.
- Before your appointment, the DSD nurse coordinator calls you to introduce the clinic and learn more about your child. Sometimes this call happens before we schedule the appointment.
- If you already have an appointment, learn more about what to expect and how to prepare.
- Learn about DSD Program resources, such as useful links, videos and recommended reading for you and your family.
Participate in Research
Help us answer questions about childhood health and illness, and help other children in the future. Learn more.
Providers, see how to refer a patient.