Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.
Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.
Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives.
Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, a number of physical features and poor growth are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.
Turner syndrome may be suspected prenatally based on prenatal cell-free DNA screening ― a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother ― or prenatal ultrasound. Prenatal ultrasound of a baby with Turner syndrome may show:
Signs of Turner syndrome at birth or during infancy may include:
The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure that may have occurred by birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include:
Sometimes it's difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. It's important to get a prompt, accurate diagnosis and appropriate care. See your doctor if you have concerns about physical or sexual development.
Most people are born with two sex chromosomes. Boys inherit the X chromosome from their mothers and the Y chromosome from their fathers. Girls inherit one X chromosome from each parent. In girls who have Turner syndrome, one copy of the X chromosome is missing, partially missing or altered.
The genetic alterations of Turner syndrome may be one of the following:
The missing or altered X chromosome of Turner syndrome causes errors during fetal development and other developmental problems after birth — for example, short stature, ovarian insufficiency and heart defects. Physical characteristics and health complications that arise from the chromosomal error vary greatly.
The loss or alteration of the X chromosome occurs randomly. Sometimes, it's because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development.
Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Turner syndrome will have another child with the disorder.
Turner syndrome can affect the proper development of several body systems, but varies greatly among individuals with the syndrome. Complications that can occur include:
If, based on signs and symptoms, the doctor suspects that your child has Turner syndrome, a lab test will typically be done to analyze your child's chromosomes. The test involves a blood sample. Occasionally, your doctor also may request a cheek scraping (buccal smear) or skin sample. The chromosome analysis determines whether or not there is a missing X chromosome or abnormality of one of the X chromosomes.
A diagnosis is sometimes made during fetal development. Certain features on an ultrasound image may raise suspicion that your baby has Turner syndrome or another genetic condition affecting development in the womb.
Prenatal screening tests that evaluate the baby's DNA in the mother's blood (prenatal cell-free DNA screening or noninvasive prenatal screening) may also indicate an increased risk of Turner syndrome. However, doing a karyotype during pregnancy or after delivery is recommended to confirm the diagnosis.
Your pregnancy and childbirth specialist (obstetrician) may ask if you're interested in additional tests to make a diagnosis before your baby's birth. One of two procedures can be performed to test prenatally for Turner syndrome:
Discuss the benefits and risks of prenatal testing with your doctor.
Because symptoms and complications vary, treatments are tailored to address your child's particular problems. Evaluation and monitoring for medical or mental health issues associated with Turner syndrome throughout life can help to address problems early.
The primary treatments for nearly all girls and women with Turner syndrome include hormone therapies:
Other treatments are tailored to address your child's particular problems as needed. Regular checkups have shown substantial improvements in the health and quality of life for girls and women with Turner syndrome.
It's important to help your child prepare for the transition from care with your pediatrician to adult medical and mental health care. A primary care doctor can help to continue coordination of care among a number of specialists throughout life.
Because Turner syndrome can result in various developmental problems and medical complications, several specialists may be involved in screening for specific conditions, making diagnoses, recommending treatments and providing care.
Teams may evolve as the needs of girls with Turner syndrome change throughout life. Care team specialists may include some or all of these professionals, and others as needed:
Only a small percentage of women with Turner syndrome can become pregnant without fertility treatment. Those who can are still likely to experience failure of the ovaries and subsequent infertility very early in adulthood. So it's important to discuss reproductive goals with your doctor.
Some women with Turner syndrome can become pregnant with the donation of an egg or embryo. This requires a specially designed hormone therapy to prepare the uterus for pregnancy. A reproductive endocrinologist can discuss options and help evaluate the chances of success.
In most cases, females with Turner syndrome have relatively high-risk pregnancies. It's important to discuss those risks before pregnancy with a high-risk obstetrician ― a specialist in maternal-fetal medicine who focuses on high-risk pregnancies ― or a reproductive endocrinologist.
The Turner Syndrome Society of the United States and other organizations provide educational materials, resources for families and information about support groups. Groups for parents provide an opportunity to exchange ideas, develop coping strategies and locate resources.
Peer groups for girls with Turner syndrome can help reinforce self-esteem and provide a social network of people who understand how to live with Turner syndrome.
How you learn your child has Turner syndrome may vary.
It's important to take your child to all regularly scheduled well-baby visits and annual appointments throughout childhood. These visits are an opportunity for the doctor to take height measurements, note delays in expected growth and identify other problems in physical development.
The doctor may ask questions such as:
If your family doctor or pediatrician believes that your child shows signs or symptoms of Turner syndrome and suggests diagnostic tests, you may want to ask these questions: