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Disorders of Sex Development Program

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Seattle Children’s and the University of Washington formed a multidisciplinary team in 1981 to care for children with disorders of sex development (DSDs). Today this team has become Children’s DSD Program and is named a Center of Excellence by the NIH. We diagnose and manage DSDs in infants, children and adolescents. Our mission is to improve the care of these children by educating families and healthcare providers, doing research to assess outcomes and reviewing current medical practice.

Many children with DSDs have complex, rare conditions. Some need urgent care after birth, like to treat a condition that threatens their life or health. In some cases, it is also important to get support to help you understand whether it is best to raise your child as a girl or a boy if your child’s sex is not clear right away. We can help relieve some of the anxiety that many families have during this process. The providers on our DSD team work together closely to provide timely, expert care. Our team is made up of specialists from pediatric and reproductive endocrinology, genetics, urology, gynecology, child and adolescent psychiatry, adolescent medicine and cytogenetics. We involve family members in decisions about their child’s care, and we provide experienced counseling and support.

Conditions We Treat


We care for children with any DSD, including ambiguous genitalia, disorders that affect genital development and intersex conditions.


Mosaic sex chromosome abnormality on amniocentesis

A pregnant woman who has genetic tests for her baby may learn that the test found two types of cells – one type typically found in girls and one type typically found in boys. Some babies have both types. This is called a mosaic sex chromosome abnormality. Examples are 45,X/46,XY mosaicism (pronounced moh-ZAY-iss-izm) and 46,XX/46,XY mosaicism. The DSD team can help parents understand what this test result might mean for their child.

Family history of congenital adrenal hyperplasia

In people with congenital adrenal hyperplasia (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 traits that are more common in boys, such as genitals that look more like those of a typical boy. If you or another close family member has CAH, chances may be higher that your baby will have it. Our DSD team can talk to you about your risk, assess your baby if you are pregnant and help you understand the results.

Family history of an intersex condition or another DSD

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 every 1,500 has a DSD. Doctors and genetic counselors from the DSD Program can talk to 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.

Ambiguous genitalia in a newborn

“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. A baby may have a penis that is smaller than average (micropenis). The hole where pee (urine) comes out may be on the underside of the penis instead of the end (severe hypospadias). A baby may have a clitoris that is larger than average. The flaps of skin outside the vagina (labia) may be fused. Our DSD team sees newborns with conditions like these to help find the reason for the condition and to help you make a choice about your baby’s sex.

Mosaic sex chromosome abnormalities or sex chromosomes that do not match the external genitalia in a newborn

Parents of newborns who have genetic tests may be told that the test found two types of cells. In most babies, girls have one type of cell and boys have the other type. Some babies have both types. This is called a mosaic sex chromosome abnormality. Sometimes test results show only one type of cell but the baby’s genitals look different from what might be expected when they have this type of cell. The DSD team can help parents understand what these test results might mean for their child.

Atypical genitalia in children or adolescents

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 will also provide support and resources for you and your child. If your child’s condition needs any treatment, we provide this, too.

Abnormal sexual or pubertal development

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 expected for their sex. If your child develops in ways that are not average, it can be important to look for the reason why. Abnormal development may be a sign of a condition that can affect your child’s sexuality or ability to have children (fertility) or other aspects of their health.

Primary amenorrhea

“Amenorrhea” means lack of menstrual periods. “Primary amenorrhea” means a girl is well past the age when periods usually start (the average is around age 12), but periods have not started. (“Secondary amenorrhea” means a girl has had periods in the past, but they have stopped.) There are many reasons why this happens. Something about the structure of the genitals and pelvic organs may be preventing periods. Hormones may not be telling her body to have periods. Many other conditions can also affect whether – and when – periods begin.

Vaginal agenesis

Girls may be born with no vagina or an incomplete vagina (vaginal agenesis), or their vagina may have formed in a way that isn’t typical (vaginal atresia). Babies with this birth defect often have problems with their uterus and sometimes with other organs. Some have a condition called Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Read more.

Services We Offer

Diagnosis

To diagnose DSDs, your child’s team at Seattle Children’s checks your child’s condition, starting with a physical exam.

Your child may also need these services:

 

  • Genetic tests (cytogenetic and DNA studies)
  • Blood tests to measure hormone levels (hormonal studies)
  • X-rays or other imaging tests (radiological evaluation)
  • An exam using a small camera that goes inside your child’s body to see their organs (endoscopic and laparoscopic studies)
  • An exam 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.

Management

Seattle Children’s offers a range of options to manage DSDs, along with counseling and support to help families make decisions about their child’s care. The team can help your family think through how to handle challenges at different phases of your child’s life and make sure you all get the support you need. Treatment options may include hormonal therapy, nonsurgical treatment (such as vaginal dilatation to enlarge the vagina), surgery to create or alter genitals (surgical reconstruction), psychosocial support for your child and family and long-term follow-up as your child grows and develops. We also know how important it is to talk to other parents of children with DSDs. We can help you arrange for this. Seattle Children’s also hosts a monthly support group called the Alliance for DSD Family and Peer Support. The DSD team meets regularly to discuss each patient’s care so your child and family benefit from the expertise of the entire team.

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