Differences of Sex Development (DSD)

Expert, Compassionate Care for Intersex Children

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Children born with atypical sex organs need care from specialists who help manage their physical, emotional, and social needs and their well-being. As their parents, you need the support and guidance that only a team of experts can provide. Our pediatric endocrinologists, geneticists, pediatric urologists, psychologists, and social workers understand your anxiety and are dedicated to helping you make decisions about your child’s care. Together, we help you face challenges that arise as your child develops and transitions to adulthood. Our holistic, individualized treatment supports you and your child every step of the way.

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What are Differences of Sex Development?

Children born with differences of sex development may have sex-specific traits that aren’t clearly male or female. This may be referred to as ambiguous genitalia. Some of the more common differences of sex development (DSD) are Turner syndrome, Klinefelter syndrome, congenital adrenal hyperplasia, and androgen insensitivity. These can be caused by several different factors. 

    Chromosomal Disorders

    Chromosomal disorders can result from an abnormal number of sex chromosomes or a specific gene mutation.

    Hormonal Imbalances

    Hormonal imbalances can include congenital adrenal hyperplasia (CAH), a genetic disorder that affects hormone production in the adrenal glands. In females, CAH can cause an enlarged clitoris and fused labia. Androgen insensitivity can also be the result of a hormone imbalance. Androgen insensitivity results from the body’s inability to carry out the signals from the hormones.

    Genital Abnormalities

    Genital abnormalities include abnormal growth of the penis, scrotum, vagina, uterus, ovaries, or clitoris; impaired testicle development; or an absent or atypical vagina.

    Our Locations

    Duke Health offers locations throughout the Triangle. Find one near you.

    Understanding Your Child’s DSD Treatment Options

    We're Here to Guide You
    We understand you have questions, and we are here to guide you. We help you make educated decisions about your child’s care when they are infants and as they grow to adolescents. We also work with adolescents who are recently diagnosed with differences of sex development after experiencing atypical sexual development. This is a lifelong journey for you and your child, and we are your partners.

    Understanding Your Child's Needs Is The First Step
    The first step is understanding your child’s condition and determining if it is affecting their physical well-being now or will in the future. For example, if your child cannot urinate properly or their condition increases their risk for cancer of the reproductive system as teens, surgery may be recommended. However, this is uncommon; typically, the decision to pursue surgery can be postponed until medically necessary. Your child’s overall health is our main concern.

    Why It's Important to Develop a Long-Term Relationship
    More often, your child’s physical health is not immediately affected, and you and your child will begin a long-term relationship with our gender care specialists. Your child’s team may include a pediatric urologist, pediatric endocrinologist, medical ethicist, social worker, and pediatric psychologist. Depending on your child’s age and needs, we also coordinate your child’s care with specialists in neonatology, genetics, pediatric surgery, adolescent medicine, gynecology, and fertility.

    Taking it Slow
    As we get to know you and your child through multiple visits over time, we make sure you understand the impact your treatment decisions will have on your child’s future health and well-being. We explain the ethical, emotional, and psychological considerations of treatment. It’s a purposely slow and methodical process. We want you to be confident in your decision. We want to make sure your child feels comfortable with their body and gender identity when they become adolescents.

    Your Child's Psychological and Emotional Well-Being
    Your child’s psychosocial and emotional well-being are critical parts of the process. Our psychologists and behavioral therapists are here for you and your family at every stage of your child’s growth.

    We Provide the Full Range of Support
    You may also work with our social workers and spiritual care providers, who offer children and families a full range of support, including assistance, education, and referrals to community resources. Our social workers can help you work with school staff if your child needs assistance at school. We also work closely with Duke Law School to offer assistance with legal matters such as changing birth certificates. 

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    Evaluating Surgical Needs for Differences of Sex Development

    When Is Surgery Considered
    In the appropriate setting, surgery to reconstruct ambiguous or atypical genital organs may be indicated. This could be due to physical concerns that may affect your child's health. Later surgery may be indicated if your child has issues with sexual function or fertility. Because each child is unique, we develop an individualized treatment plan for every family and every child. 

    When Is Surgery Typically Performed
    Depending on the reason for surgery, genital surgery in infants with primarily male genitalia may be performed between six and 18 months of age. Infants with primarily female genitalia may undergo surgery during this time frame as well; however, vaginal surgeries that affect fertility can wait until after puberty.

    Nonsurgical Techniques May Be Recommended
    Your doctor may also recommend non-surgical techniques, such as gentle vaginal stretching or dilation to improve the function of the vagina, for example.

    The Process of Evaluating Your Child for Surgery
    We spend months discussing the impact of surgery on your child and help you understand when, how, and if surgery should be considered.  No decisions are made in isolation; our team members have regular patient care conferences to discuss individualized treatment plans for each child.

    We Often Recommend Waiting
    If there is no physical concern, we often recommend waiting. Because surgery will have a significant impact on your child’s life, it requires a thorough understanding of all the physical and psychological considerations. You may choose to wait until your child is old enough to make their own decision. 

    If Surgery is the Best Course of Action
    However, if and when you choose surgery for your child, it’s comforting to know that we are recognized for the depth of our expertise. Our pediatric urology and endocrinology programs are nationally ranked by U.S. News & World Report. In addition, Duke Children’s is one of only a few U.S. hospitals verified as a level I children's surgery center by the American College of Surgeons. This Level I designation recognizes our commitment to providing the safest and highest-quality surgical care to our young patients.

    Best Children's Hospital in NC

    Duke Children's Hospital & Health Center is proud to be nationally ranked in 10 pediatric specialties.

    This page was medically reviewed on 09/19/2023 by