KidsMD Health Topics

Turner Syndrome

  • Overview

    "I approach treatment as a long-term conversation between me, the patient and her parents about the best courses of action. Establishing some level of normalcy for families in situations that's aren't normal is something we do exceptionally well here at Children's."

    Diane Stafford, MD, Children's pediatric endocrinologist

    Turner syndrome is a genetic disorder that causes girls to be short and prevents them from maturing sexually as they grow into adulthood. The severity of these issues varies from girl to girl; in many cases, Turner’s syndrome can be managed or corrected with treatment options ranging from growth hormone therapy, estrogen therapy and progesterone therapy to certain medications.

    While Turner syndrome is a complicated condition that requires constant medical oversight, most girls with the disease go on to lead normal, happy lives.

    Overall, Turner syndrome occurs in about one out of 2,500 female births.
    The occurrence of Turner syndrome is not associated with the mother’s age at the time of pregnancy or birth.
    Turner syndrome is caused by a missing or incomplete X chromosome in your child’s genetic makeup.
    About one-third of girls with Turner syndrome are diagnosed as newborns, another third during childhood and the remaining third during their late teens.
    Most girls with Turner syndrome are born with poorly formed or missing ovaries, which can result in infertility.
    There is no cure for Turner syndrome, but many of the more serious problems associated with it can be treated.

    How Children’s Hospital Boston approaches Turner syndrome ?
    Children’s Division of Endocrinology is one of the world's leading centers for the treatment of children and adolescents with endocrine disorders, including early puberty. Caring for more than 7,000 patients each year, our division is also one of the largest pediatric endocrinology practices in the United States.

    Here at Children’s, all of our caregivers are both experienced and sensitive to the physical and emotional challenges girls face when they have Turner syndrome. We consider you, your child and your family essential members of the treatment team, and we are always here to help at every step of the way.

    As a multidisciplinary pediatric care center, we offers direct access to the wide range of specialists your child may need to see for her condition—including cardiologists, renal experts, genetic counselors and clinical social workers.

    Top Ranking
    Children's Division of Endocrinology was ranked second in the nation in U.S.News & World Report’s 2012-13 edition of “America’s Best Children’s Hospitals.”

  • In-Depth

    Turner syndrome is a genetic disorder that causes girls to be short, and prevents them from maturing sexually as they grow into adulthood.

    Overall, Turner syndrome occurs in about one out of 2,500 female births.
    The occurrence of Turner syndrome is not associated with the mother’s age at the time of pregnancy or birth.
    About one-third of girls with Turner syndrome are diagnosed as newborns, another third during childhood and the remaining third during their late teens.

    How are chromosomes involved in the onset of Turner syndrome?
    Normally, a baby has a complete set of 46 chromosomes in each cell of the body—23 from the father and 23 from the mother.

    In some cases, however, one member of a pair of chromosomes is missing, resulting in a total of 45 chromosomes instead of 46—for example, a baby that is born with only one X sex chromosome in each cell, rather than the usual pair (either XX or XY sex chromosomes).

    In such a case, the baby is said to have "monosomy X." Monosomy X, or XO, is the karyotype () most frequently seen in Turner syndrome.

    How serious a disease is Turner syndrome?

    The severity of symptoms varies from patient to patient. For many girls, their Turner syndrome can be managed or corrected with treatment options ranging from growth hormone therapy, estrogen therapy and progesterone therapy to certain medications.

    While Turner syndrome is a complicated condition that requires constant medical oversight, most girls with the disease go on to lead normal, happy lives with proper care.

    Causes

    What causes Turner syndrome?
    Turner syndrome is caused by a missing or incomplete X chromosome in your child’s genetic makeup.

    This may take one of three forms:

    • your child is missing an entire X chromosome (most common)
    • your child has two X chromosomes, but one is incomplete
    • your child has some cells with two X chromosomes, and others with only one


    When only part of a chromosome is missing, girls with Turner syndrome usually have milder features of the syndrome. The symptoms expressed will depend on which parts of the chromosome are missing.

    What causes a missing chromosome?
    Sometimes an error occurs when an egg or sperm cell is forming, causing it to have no sex chromosome (X or Y). When this cell combines with a sperm or egg at fertilization, the resulting cell has only one X chromosome.

    While this could happen to either the egg cell or the sperm cell, it usually happens to the sperm cell. There is no known action that either a mother or father could have taken—or not taken—that would have caused, or prevented, the missing sex chromosome.

    Signs and symptoms

    What are the symptoms of Turner syndrome?
    Since Turner syndrome can be diagnosed at different stages in a girl’s life, your daughter’s symptoms may vary depending on her age at diagnosis.

    Symptoms detected in the womb/at birth
    While performing a fetal ultrasound during a mother’s pregnancy, a physician may see a structure called a cystic hygroma. Cystic hygromas are fluid-filled sacs at the base of the baby’s neck that can indicate the presence of Turner syndrome. Most often, they go away before a baby is born, but in some cases, they’re still present in newborns.

    Turner syndrome may also be identified when a woman has an amniocentesis during pregnancy and a karyotype is performed on the fetal cells in the amniotic fluid.

    About half of girls born with Turner syndrome have puffy hands and feet at birth, in addition to wideness and “webbing” of the neck.?


    Symptoms developing in childhood
    A visibly short stature is the most obvious feature of Turner syndrome during a girl’s childhood. Most often, your doctor will notice a decrease in your daughter’s growth percentiles when she’s between 4 and 6 years old.

    A girl with Turner syndrome may also have:

    • low hairline at the back of her neck
    • minor differences in the shape and position of her ears
    • a broad chest with widely spaced nipples
    • an increased number of small brown moles (called nevi) on her skin

    Symptoms developing in late teens
    Most girls with Turner syndrome are born with poorly formed or missing ovaries, which can result in infertility. Ovaries produce the hormone estrogen, and without it, incomplete sexual development occurs.

    This may result in the following symptoms:

    • sparse pubic hair
    • incomplete breast development
    • inability to menstruate
    • vaginal dryness

    Infertility caused by missing or poorly formed ovaries is not usually correctible, but hormone therapy can help significantly with other issues affecting your daughter’s sexual development.

    Other characteristics of Turner syndrome can include:

    • feeding problems during infancy
    • heart, kidney and thyroid problems
    • coarctation of the aorta (the constriction of the main artery leaving the heart), which sometimes needs to be corrected surgically
    • skeletal problems
    • cubitis valgus, a condition in which a person standing with their arms at their sides will have their elbows slightly bent

    Questions to ask your doctor

    • What tests are involved in diagnosing Turner syndrome?
    • Will my daughter be screened for other medical problems that may be associated with the condition?
    • What’s the best course of treatment, and are there any risks involved?
    • What are the long-term effects of the condition?
    • What are my daughter’s chances for conceiving children as she moves into adulthood?

    FAQ

    Q: What causes a missing chromosome? As a parent, did I do something wrong?
    A: Sometimes an error occurs when an egg or sperm cell is forming, causing it to have no sex chromosome (X or Y). When this cell combines with a sperm or egg at fertilization, the resulting cell has only one X chromosome.

    While this could happen to either the egg cell or the sperm cell, it usually happens to the sperm cell. There is nothing known that either a mother or father could have done (or not done) that would have caused or prevented this from happening.

    Q: Is there a cure for Turner syndrome?
    A: There is no cure for Turner syndrome, but many of the more serious problems associated with it can be treated through growth hormone therapy, estrogen therapy, progesterone therapy and other medications. Counseling can also help a girl with Turner syndrome deal with some of the more sensitive issues associated with this condition.

    Q: Does Turner syndrome affect mental development?
    A: Girls with Turner syndrome have normal intelligence and tend to have higher verbal IQs than nonverbal IQs. They may also have some problems in the areas of spatial perception, non-verbal memory and attention.

    Q: Will my daughter be able to have children?
    A: Most girls with Turner syndrome are born with poorly formed or absent ovaries, which can result in infertility. Ovaries produce estrogen, and without it, incomplete sexual development occurs.

    Infertility caused by missing or poorly formed ovaries is not usually correctible, but hormone therapy can help significantly with other issues related to sexual development. As your daughter moves into adulthood, she may choose to pursue in vetro fertilization or adoption if she wants to have children.

    Q: What is the risk of parents who gave birth to a daughter with Turner syndrome having another daughter with Turner syndrome?
    A: There is no known risk of recurrence. The chance of having another baby with Turner syndrome has no relationship to the mother’s age.

    Center for Young Women's Health
    Why are my friendships changing? How can I convince my parents that being a vegetarian is healthy and right for me? What types of birth control are available to me, and how do I use them? Young men and young women may have some concerns specific to their gender, and some that they share. At Children’s, the Center for Young Women’s Health and Center for Young Men’s Heath offer the latest general and gender-specific information about issues including fitness and nutrition, sexuality and health, health and development and emotional health.
  • Tests

    How can my daughter’s doctor tell if she has Turner syndrome?
    A diagnosis of Turner syndrome may be made either before or after birth. The most reliable way is by using a blood test called a karyotype, a chromosomal analysis that has 99.9 percent accuracy. For this procedure, a specialist counts the chromosomes in the white blood cells and looks for abnormalities.

    Diagnosing Turner syndrome before birth
    A karyotype may be performed on cells in the amniotic fluid.
    Fetal ultrasound during pregnancy can give information about the possibility of Turner syndrome, but it isn’t 100 percent accurate. Many babies with Turner syndrome may look the same on ultrasound as those without Turner syndrome.

    Diagnosing Turner syndrome after birth
    A karyotype will be performed to examine your child’s chromosomal makeup.

    Once the diagnosis is made, other studies that we may recommend are:

    • echocardiogram (heart ultrasound)
    • ultrasound of reproductive organs and kidneys
    • pelvic exam
    • magnetic resonance imaging (MRI) of the chest


    Due to great variability in the physical features exhibited by girls with Turner syndrome, a diagnosis may not be made until a young woman fails to go through puberty.

  • What treatments are available for conditions associated with Turner syndrome?
    Although there is no cure for Turner syndrome, many of the more serious problems can be treated:

    Growth hormone therapy can increase a girl's growth rate and achieve greater final height. Some patients do not respond to this therapy.

    Estrogen therapy can help a girl develop secondary sexual characteristics. This therapy is often started when a girl is between ages 12 and 14.

    Progesterone therapy can bring on a monthly menstrual cycle.

    Certain medications can treat high blood pressure, diabetes and thyroid problems, if needed. Learn more about medications.

    Counseling from a qualified mental health professional can help a girl deal with some of the sensitive psychological and emotional issues linked to this condition.

    While Turner syndrome is a complicated condition that requires constant medical oversight, most girls with Turner syndrome will go on to lead normal, happy lives with proper care.

    As a girl with Turner syndrome grows into adulthood, she may choose to pursue in vetro fertilization or adoption if she wants children.

    Coping and support

    At Boston Children's Hospital, we understand that you may have a lot of questions when your daughter is diagnosed with Turner syndrome: How can I help my daughter feel less self-conscious about being “different”? How will it affect her long-term health? How do I tell her that she's unlikely to be able to have children on her own?

    These are serious concerns, and we've tried to provide some answers on this site. There are also a number of additional resources at Children's to guide you and your family through diagnosis and treatment:

    Patient and family resources at Children's

    As part of a multi-specialty program, the Gender Management Service (GeMS) at Children's provides endocrinologic evaluations and offers various psychological and social work support services. GeMS is also working with Children's Division of Adolescent Medicine to develop clinical practice guidelines for the use of estrogen therapy in the induction of puberty. For more information, visit the GeMS web site or call.

    Children's Center for Families is dedicated to helping families locate the information and resources they need to better understand their child's particular condition and take part in their care. All patients, families and health professionals are welcome to use the center's services at no extra cost. The Center for Families is open Monday through Friday from 8 a.m. to 7 p.m., and on Saturdays from 9 a.m. to 1 p.m. Please call 617-355-6279 for more information.?

    The Child Life program at Children's is designed to offer additional support for kids and families dealing with health problems. Your child's optometrist or ophthalmologist may refer you to these specialists for assistance.?
    The Experience Journal was designed by Children's psychiatrist-in-chief David DeMaso, MD, and members of his team. This online collection features thoughts, reflections and advice from kids and caregivers dealing with a variety of medical problems and procedures.

    Our Behavioral Medicine Clinic helps children who are being treated on an outpatient basis at the hospital—as well as their families—understand and cope with their feelings about:

    • being sick
    • facing uncomfortable procedures
    • handling pain
    • taking medication
    • preparing for surgery
    • changes in friendships and family relationships
    • managing school while dealing with an illness
    • grief and loss

    Children's Integrative Therapies Team offers several different types of therapies for hospitalized kids, as well as consultations and educational sessions for parents and healthcare providers. The team specializes in treatments that can complement a child's medical care, including:

    • acupuncture
    • art therapy
    • massage therapy
    • music therapy
    • reiki
    • therapeutic touch
    • yoga

    Children's Department of Psychiatry offers a free booklet, "Helping Your Child with Medical Experiences: A Practical Parent Guide” (Adobe Acrobat is required). Topics in the booklet include:

    • talking to your child about her condition
    • preparing for surgery and hospitalization
    • supporting siblings
    • taking care of yourself during your child's illness
    • adjusting to life after treatment?

    Children's International Center is a dedicated resource for patients and families from countries outside the United States. The center can provide assistance with everything from reviewing medical records to setting up appointments and locating lodging. Contact the center by phone at 01-617-355-5209.

    For Patients and Families site, you can read all you need to know about:

    • getting to Children's
    • accommodations
    • navigating the hospital experience
    • resources that are available for your family
  • Research & Innovation

    Boston Children's Hospital's Division of Endocrinology operates one of the nation's most extensive research programs focused on pediatric endocrine disorders. With more than 50 basic science and clinical researchers, we are attempting to unravel the genetic and biochemical underpinnings of the endocrine system.

    Here at Children’s, we’re known for our science-driven approach and our intense culture of innovation—a philosophy that pushes the boundaries of pediatric care. We’re frequently ranked as one of the top pediatric hospitals in the United States.

    The collaborative atmosphere at Children's allows specialists across a wide range of disciplines—including endocrinology, cardiology and genetics—to steadily increase their understanding of Turner syndrome’s root causes and effective treatment. Our knowledge about Turner syndrome is constantly evolving.

    Clinical trials?
    Children’s is known worldwide for pioneering some of the most effective diagnostic tools, therapies and preventive approaches in pediatric medicine. A significant part of our success comes from our commitment to research—and to advancing the frontiers of health care by conducting clinical trials.

    Children’s coordinates hundreds of clinical trials at any given time. Clinical trials are studies that may involve:

    • evaluating the effectiveness of a new drug therapy
    • testing a new diagnostic procedure or device
    • examining a new treatment method for a particular condition
    • taking a closer look at the causes and progression of specific diseases


    Children’s is involved in several multi-site clinical trials and studies focusing on pediatric neurology, psychiatry and developmental medicine. While children must meet strict criteria in order to be eligible for a clinical trial, your child may be a candidate for participation in a study. Before considering this option, you should be sure to:

    • consult with your child’s treating physician and treatment team
    • gather as much information as possible about the specific course of action outlined in the trial
    • do your own research about the latest breakthroughs relating to your child’s condition


    Taking part in a clinical trial at Children’s is entirely voluntary. Our team will be sure to fully address any questions you may have, and you may remove your child from any medical study at any time.

    Search current and upcoming clinical trials at Children’s.

    Search the National Institute of Health’s list of clinical trials taking place around the world.

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