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:
- Large fluid collection on the back of the neck or other abnormal fluid collections (edema)
- Heart abnormalities
- Abnormal kidneys
At birth or during infancy
Signs of Turner syndrome at birth or during infancy may include:
- Wide or weblike neck
- Low-set ears
- Broad chest with widely spaced nipples
- High, narrow roof of the mouth (palate)
- Arms that turn outward at the elbows
- Fingernails and toenails that are narrow and turned upward
- Swelling of the hands and feet, especially at birth
- Slightly smaller than average height at birth
- Slowed growth
- Cardiac defects
- Low hairline at the back of the head
- Receding or small lower jaw
- Short fingers and toes
In childhood, teens and adulthood
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:
- Slowed growth
- No growth spurts at expected times in childhood
- Adult height significantly less than might be expected for a female member of the family
- Failure to begin sexual changes expected during puberty
- Sexual development that "stalls" during teenage years
- Early end to menstrual cycles not due to pregnancy
- For most women with Turner syndrome, inability to conceive a child without fertility treatment
When to see a doctor
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:
- Monosomy. The complete absence of an X chromosome generally occurs because of an error in the father's sperm or in the mother's egg. This results in every cell in the body having only one X chromosome.
- Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome.
- X chromosome abnormalities. Abnormal or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. This error can occur in the sperm or egg with all cells having one complete and one altered copy. Or the error can occur in cell division in early fetal development so that only some cells contain the abnormal or missing parts of one of the X chromosomes (mosaicism).
- Y chromosome material. In a small percentage of Turner syndrome cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as female, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.
Effect of the chromosomal errors
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:
- Heart problems. Many infants with Turner syndrome are born with heart defects or even slight abnormalities in heart structure that increase their risk of serious complications. Heart defects often include problems with the aorta, the large blood vessel that branches off the heart and delivers oxygen-rich blood to the body.
- High blood pressure. Women with Turner syndrome have an increased risk of high blood pressure — a condition that increases the risk of developing diseases of the heart and blood vessels.
- Hearing loss. Hearing loss is common with Turner syndrome. In some cases, this is due to the gradual loss of nerve function. An increased risk of frequent middle ear infections can also result in hearing loss.
- Vision problems. Girls with Turner syndrome have an increased risk of weak muscle control of eye movements (strabismus), nearsightedness and other vision problems.
- Kidney problems. Girls with Turner syndrome may have some malformation of the kidneys. Although these abnormalities generally don't cause medical problems, they may increase the risk of high blood pressure and urinary tract infections.
- Autoimmune disorders. Girls and women with Turner syndrome have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease.
- Skeletal problems. Problems with the growth and development of bones increase the risk of abnormal curvature of the spine (scoliosis) and forward rounding of the upper back (kyphosis). Women with Turner syndrome are also at increased risk of developing weak, brittle bones (osteoporosis).
- Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. However, there is increased risk of learning disabilities, particularly with learning that involves spatial concepts, math, memory and attention.
- Mental health issues. Girls and women with Turner syndrome may have difficulties functioning well in social situations and have an increased risk of attention-deficit/hyperactivity disorder (ADHD).
- Infertility. Most women with Turner syndrome are infertile. However, a very small number of women may become pregnant spontaneously, and some can become pregnant with fertility treatment.
- Pregnancy complications. Because women with Turner syndrome are at increased risk of complications during pregnancy, such as high blood pressure and aortic dissection, they should be evaluated by a cardiologist before pregnancy.
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:
- Chorionic villus sampling. This involves taking a small piece of tissue from the developing placenta. The placenta contains the same genetic material as the baby. The chorionic villus cells can be sent to the genetics laboratory for chromosome studies.
- Amniocentesis. In this test, a sample of the amniotic fluid is taken from the uterus. The baby sheds cells into the amniotic fluid. The fluid can be sent to the genetics laboratory for study of the baby's chromosomes in these cells.
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:
- Growth hormone. For most girls, growth hormone therapy — usually given daily as injections of recombinant human growth hormone — is recommended to increase height as much as possible at appropriate times during early childhood until the early teen years. Starting treatment early can improve height and bone growth. In girls with very short stature, the doctor may recommend oxandrolone in addition to the growth hormone. Oxandrolone is a hormone that helps to increase height by increasing the body's production of protein and improving bone mineral density.
- Estrogen therapy. Most girls with Turner syndrome need to start estrogen and related hormone therapy in order to begin puberty. Often, estrogen therapy is started around age 11 or 12 years. Estrogen helps to promote breast development and improve the size (volume) of the uterus. Estrogen helps with bone mineralization, and when used with growth hormone, may also help with height. Estrogen replacement therapy usually continues throughout life, until the average age of menopause is reached.
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.
Health care team
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:
- Hormone disorder specialist (endocrinologist)
- Specialist in women's health (gynecologist)
- Physician who specializes in genetics (medical geneticist)
- Heart specialist (cardiologist)
- Specialist in skeletal disorders (orthopedist)
- Specialist in urinary tract disorders (urologist)
- Ear, nose and throat (ENT) specialist
- Specialist in gastrointestinal disorders (gastroenterologist)
- Specialist in vision problems and other eye disorders (ophthalmologist)
- Specialist in hearing problems (audiologist)
- Dental specialist in correcting problems with the alignment of teeth (orthodontist)
- Mental health professional, such as a psychologist or psychiatrist
- Developmental therapist, who specializes in therapy to help your child develop age-appropriate behaviors, social skills and interpersonal skills
- Special education instructors
- Fertility specialist (reproductive endocrinologist)
Pregnancy and fertility treatment
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.
Coping and support
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.
Preparing for an appointment
How you learn your child has Turner syndrome may vary.
- Before birth. Turner syndrome may be suspected by prenatal cell-free DNA screening or certain features may be detected on prenatal ultrasound screening. Prenatal diagnostic testing can confirm the diagnosis.
- At birth. If certain conditions — such as a webbed neck or other distinct physical features — are readily apparent at birth, diagnostic tests will likely begin before your child leaves the hospital.
- During childhood or teen years. Your family doctor or pediatrician may suspect the disorder later if growth isn't occurring at an expected rate or puberty doesn't begin at an expected time. Diagnostic testing can confirm the diagnosis.
Well-baby visits and annual checkups
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:
- What concerns do you have about your child's growth or development?
- How well does your child eat?
- Has your child begun to show signs of puberty?
- Is your child experiencing any learning difficulties at school?
- How does your child do in peer-to-peer interactions or social situations?
Talking to the doctor about Turner syndrome
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:
- What diagnostic tests are needed?
- When will we know the results of the tests?
- What specialists will we need to see?
- How will you screen for disorders or complications that are commonly associated with Turner syndrome?
- How can I help monitor my child's health and development?
- Can you suggest educational materials and local support services regarding Turner syndrome?