How to diagnose turner syndrome

Turner Syndrome is a chromosomal condition that occurs when one of the two X chromosomes found in females is missing or incomplete. It is a chromosomal condition that only affects females. It is one of the most common chromosomal conditions, occurring in about 1 out of every 2,500 live female births.

What causes it?

Turner Syndrome is caused by the complete or partial absence of one of the two X chromosomes normally found in a woman. There are no known reasons for the complete or partial absence of one of the X chromosomes, and the condition appears to occur randomly.

How is it diagnosed?

Turner Syndrome is diagnosed using a blood test known as a karyotype. The karyotype blood test analyzes the chromosomal composition of the individual and determines whether the X chromosome is absent.

What are the symptoms?

A shorter stature and lack of ovarian development are the most common characteristics of symptoms.
The following physical characteristics may also be present:

  • A webbed neck – a variation of skin folds on the neck
  • Arms that are slightly turned out at the elbow
  • A low hairline in the rear of the head

Are there any health concerns for someone with Turner Syndrome?

A woman with Turner Syndrome who receives proper medical care should be able to lead a full and productive life — but will be more susceptible to heart problems, kidney problems, thyroid problems, or fertility problems.

What are the treatment options?

This condition cannot be cured; however, there are treatments that may reduce the symptoms. The two most common characteristics associated with the condition are short stature and lack of ovarian development, both of which can be treated.

The Food and Drug Administration has approved the use of growth hormones for the treatment. The growth hormone enhances growth velocity and potentially the final adult height. It is administered alone or with a low dose of androgen.
Ovaries produce estrogen, which is important for developing and maintaining good tissue and bone structure. Estrogen replacement therapy helps with this development, along with promoting the development of secondary sexual characteristics.

There are also reproductive technologies available that may enable a woman with Turner syndrome to become pregnant. It is possible for a woman with Turner syndrome to carry an embryo provided by a donor egg.

Symptoms of Turner Syndrome and Other Medical Conditions

  • Problems with the blood vessels or the heart
  • Kidney problems
  • Hearing problems , or thinning, weak bones
  • Type II diabetes
  • Thyroid disorder, often hypothyroidism or under-active thyroid.

How to diagnose turner syndrome

Turner Syndrome Information

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This article was co-authored by Chris M. Matsko, MD. Dr. Chris M. Matsko is a retired physician based in Pittsburgh, Pennsylvania. With over 25 years of medical research experience, Dr. Matsko was awarded the Pittsburgh Cornell University Leadership Award for Excellence. He holds a BS in Nutritional Science from Cornell University and an MD from the Temple University School of Medicine in 2007. Dr. Matsko earned a Research Writing Certification from the American Medical Writers Association (AMWA) in 2016 and a Medical Writing & Editing Certification from the University of Chicago in 2017.

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Turner Syndrome (TS) is a relatively rare condition that affects only females and is caused by a sex chromosome abnormality. It can cause a wide range of physical and developmental challenges, but early detection and ongoing treatment allow most females with the condition to live generally healthy and independent lives. [1] X Trustworthy Source Mayo Clinic Educational website from one of the world’s leading hospitals Go to source Several telltale physical signs, which can appear as early as in the womb and as late as the teenage years, often indicate TS, but only genetic analysis can diagnose the condition. Learn the signs to watch out for and you can help ensure that Turner Syndrome is diagnosed and treated promptly.

The Importance of An Early Diagnosis of Turner syndrome

Who should be tested?

As soon as indications are noticed a female should be screened for Turner Syndrome. Only some infants will have obvious characteristics at birth (lymphedema, webbed neck, heart anomalies, etc.), and for many these characteristics may become evident as she grows or fails to grow, or if other symptoms develop. It is recommended by the American Medical Association that girls below the 5th percentile in height be screened, especially when combined with some of the physical features listed in the common indications check list.

How to diagnose turner syndrome

Babies are not routinely screened for Turner Syndrome at birth, and many infants do not have identifying characteristics; therefore, more than 50% of babies with TS are identified later in life.

What is the testing method for diagnosis?

uring pregnancy, Turner syndrome may be diagnosed by chorionic villi sampling (CVS) or after 13 weeks gestation, amniocentesis or even a sonogram requiring further evaluation. Sometimes, fetuses with Turner Syndrome are identified by abnormal ultrasound findings (i.e. heart defect, kidney abnormality, cystic hygroma, ascites). After birth she can have a simple blood test called a karyotype, which is the gold standard for testing. This test requires a blood draw and usually will require a two week waiting period for results. This test will check for the absence of all or part of one X chromosome.

When should you be tested?

Screening for Turner Syndrome should not be delayed, as there are other important health screenings of organ and lipid function, and interventions that could benefit a young child that would not have the same effect in an older child. If a child exhibits common traits indicated, she should be screened without delay to rule out this potential syndrome

Where can we turn to for help?

The best source of information is a pediatric endocrinologist who specializes in the care of patients with Turner Syndrome. Do your own investigative research and read everything you can. Familiarize yourself with the Clinical Guidelines, join parent groups and attend workshops or webinars whenever possible. Information for an infant is quite different and will evolve over various stages of life. It will be important to be vigilant about ongoing self-advocacy, education, support services and care.

Who will provide medical care?

Your primary care doctor may refer you to an endocrinologist when there is suspicion or a known problem with your endocrine system. Endocrinologists are trained to diagnose and treat hormone imbalances and problems by helping to restore the normal balance of hormones in your system. They take care of many conditions including:

Diabetes
Thyroid diseases
Metabolic disorders
Over or under production of hormones
Pubertal development and menopause
Osteoporosis
Hypertension
Lipid disorders, ie. cholesterol
Infertility
Short Stature

Endocrinologists also conduct basic research to learn the way glands work, and clinical research to learn the best methods to treat patients with a hormone imbalance. Since Turner syndrome is a complex condition affecting each person uniquely, patients may be seen by any number of specialists; including, cardiology, nephrology, dermatology, gastroenterology, orthodontic, orthopedic, ENT, opthomology, psychiatry, and so on.

Genetic Counseling

Genetic testing may be performed prenatally or sometime after birth. Ideally, a person who undergoes a genetic test will discuss the meaning of the test and its results with a genetic counselor.

Finding specialized care for Turner Syndrome can be challenging, and we are dedicated to expanding this network of support.

Try our interactive tool for help finding information, services, experts, financial aid, and more!

Summary Summary

Symptoms Symptoms

There are various signs and symptoms of Turner syndrome , which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don’t have a pubertal growth spurt, start their periods or develop breasts without hormone treatment . While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology. Intelligence is usually normal, but developmental delay , learning disabilities, and/or behavioral problems are sometimes present.

  • a wide, webbed neck
  • a low or indistinct hairline in the back of the head
  • swelling (lymphedema) of the hands and feet
  • broad chest and widely spaced nipples
  • arms that turn out slightly at the elbow
  • congenital heart defects or heart murmur
  • scoliosis (curving of the spine) or other skeletal abnormalities
  • kidney problems
  • an underactive thyroid gland
  • a slightly increased risk to develop diabetes, especially if older or overweight
  • osteoporosis due to a lack of estrogen , (usually prevented by hormone replacement therapy). [2][1]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Cause Cause

Turner syndrome is caused by a female having one normal X chromosome in each of her cells , while the other sex chromosome is either missing or structurally abnormal. Females without Turner syndrome have 2 full X chromosome in all of their cells, and males have one X chromosome and one Y chromosome . The missing genetic material affects development before and after birth.

Most females with Turner syndrome are missing the second sex chromosome in all of their cells. This is also referred to as having monosomy X. This form results from a random error in an egg or sperm cell prior to conception.

Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a deletion ). Depending on the specific gene (s) that are missing, features of Turner syndrome may or may not be present. A deletion may occur sporadically (not inherited ) or it may be inherited from a parent.

Mosaic Turner syndrome (when some cells have one X chromosome and some have two sex chromosomes) is caused by a random error in early fetal development (shortly after conception).

It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. It is known that the SHOX gene on the X chromosome is important for growth and bone development. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women. [1]

Inheritance Inheritance

Most cases of Turner syndrome are not inherited . Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent (prior to conception). For example, if an egg or sperm cell mistakenly loses a sex chromosome , and joins at conception with an egg or sperm containing an X chromosome , the resulting child will have a single X chromosome in each cell.

Mosaic Turner syndrome, occurring when a person has some cells with one X chromosome and some cells with two X chromosomes, is also not inherited. This also occurs due to a random event, during early fetal development rather than before conception.

In rare cases, Turner syndrome may be caused by a missing piece (partial deletion ) of the X chromosome. A deletion can be inherited from a parent. [1]

Genetic testing of an affected fetus or child can identify the type of Turner syndrome present and may help to estimate the risk of recurrence. People with questions about genetic testing or recurrence risks for Turner syndrome are encouraged to speak with a genetics professional. Please visit our page on how to find a genetic clinic.

The diagnosis of Turner syndrome can be made at almost any age, from before birth (prenatally) to well into adulthood. Doctors may suspect a diagnosis Turner syndrome because of specific symptoms. At birth, a webbed neck, congenital heart defects or swollen hands or feet may lead to suspicion of the disorder. During childhood, slow growth and other physical changes may lead to a diagnosis. Teen-aged girls who are small for their age, have nipples that are widely spaced apart, or fail to undergo puberty or get their period may be tested for Turner syndrome.

To test for Turner syndrome, doctors will take a blood sample and use this sample to examine a person’s chromosome makeup. This is called karyotyping. Karyotyping allows a doctor to examine the size, shape and number of a person’s chromosomes. This test will detect a missing or altered X chromosome.

Sometimes Turner syndrome is diagnosed before birth. This usually happens incidentally because doctors were testing a fetus for unrelated reasons. Sometimes, a routine fetal ultrasound called a sonogram may show abnormalities that are associated with Turner syndrome like kidney abnormalities or congenital heart defects.

If you believe that you or your child has Turner syndrome, you can request or seek out a referral to a genetics clinic that may be more familiar with these disorders. There are Turner syndrome clinics in the United States that specialist in this disorder. The Turner Syndrome Society and the Turner Syndrome Foundation have information on these clinics. The Genetics and Rare Diseases Information Center provides information on how to find healthcare professionals with experience in specific conditions, specialty treatment centers, genetics clinics, and researchers who are studying a specific condition.

Usually, Turner syndrome is not inherited. Even so, if you suspect that someone in your family has Turner syndrome, you should also talk to a genetic counselor in your area.

How to diagnose turner syndrome

One of the most challenging aspects of Turner Syndrome (TS) is knowing when and how to approach the TS diagnosis conversation. Whether you are a parent/caregiver or patient, read on to learn more about when and how to have this important conversation.

The Importance of Approaching the TS Diagnosis Conversation

We often dread having difficult conversations. This could involve delivering bad news, talking about a failure, or acknowledging a truth about ourselves to our loved ones. Sharing a TS diagnosis with your child, partner, friend, or family member is one of those conversations. You might be a parent contemplating how much information you should provide to your child–and at one age- about their diagnosis. Or you might be someone with TS who is having a hard time starting a conversation about your condition with your partner or friend. Difficult conversations are uncomfortable and unpredictable for all of us, but it is important to face them head-on instead of avoiding them.

How to diagnose turner syndrome

“I was not open about my TS diagnosis, except with my family and husband, until I was about 50 years old. When I finally told a few close friends, it was wonderfully liberating and opened up a new network of support. Now I am sharing my journey with the TS community, my medical providers, and even genetics interns to help spread awareness.”

Susan, woman with TS & TSF volunteer

Patients: Approaching the TS Diagnosis Conversation with Your Child

Many parents of children with TS face the dilemma of finding the right time to share their diagnosis with them. The child might have had a traumatic and stressful experience during their diagnosis. It may seem easier just to delay the conversation. But withholding information could lead to negative experiences at various points in their child’s health journey.

In a 2006 research study by Sutton, et al, researchers interviewed 97 people with TS and 21 parents about their concerns and challenges related to TS. They found that 30% of those with TS mentioned that they were not informed about their condition in a timely and upfront manner. Many of the participants in the study learned about their condition later from their health care provider, by confronting their parents, doing their own research, overhearing conversations, or reading about it in school. These situations resulted in negative disclosure experiences.

The study participants advised the newly diagnosed to have open and honest communication within the family. According to them, those with TS are usually aware that something is not quite right with them. So it is better to explain the situation to them instead of keeping them in the dark and leaving them wondering about it on their own. Other research studies by Metcalfe, et al. (2011) and Goodwin, et al. (2015) have also suggested the importance of open communication between parents and children with genetic conditions like TS. Discussing the genetic risks throughout childhood can help people with TS cope better and manage with their condition.

Disclosing your child’s condition to them early can improve their emotional resilience and help them deal with their situation in a healthy way.

A Prenatal Diagnosis and Turner Syndrome

Your pregnant! Although no one anticipates hearing news that his or her baby girl has a condition called Turner syndrome, the support and information available to you have been created from volunteers who have also experienced a prenatal diagnosis of TS. First of all, take a deep breath and exhale. Your mind is probably spinning with questions and concerns, and we’ll address common questions to the best of our ability.

We have supportive and knowledgeable staff who may help you identify the most helpful resources for you. TSSUS also has volunteers who want to share their own experience as a parent upon learning their daughter has TS. They learned much and have insights that may help you as you begin to learn about Turner syndrome. Since each person with TS is unique, it's difficult to make predictions. Learning from other parents who have walked in your shoes is often helpful and empowering.

Please contact our office at 800-365-9944 or email [email protected] and we can answer your questions or connect you with a volunteer.

The Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome explains:

Ultrasound results can suggest an increased likelihood of TS

Abnormal "triple" or "quadruple" blood screening results for a pregnant mother (alpha-fetoprotein, human chorionic gonadotropin, inhibin A, an unconjugated estriol) may also suggest a TS diagnosis

Genetic karyotype testing (blood test) for confirmation of TS after the baby has been delivered is essential because ultrasound and maternal serum screening are not always 100% reliable to confirm that a baby has TS

Below are the most frequently asked questions related to a prenatal diagnosis:

Q: Could the parents have prevented Turner syndrome from occurring?

A: No. There is absolutely no evidence or research that suggests a parent’s age, behaviors, environmental exposures, etc. contributes to TS. Mother's aged 16- 40, from New Zealand to Japan, women that desperately want a baby and those that don’t, all have the same chances of having a girl with TS.

Q: Will my baby survive?

A: This is a hard question to answer. Our Society strives to offer factual information and the reality is that it is impossible to know how your pregnancy will progress. We are hopeful one day our support of research will aid in the understanding of prenatal diagnoses. Despite technology and advances in medicine, it’s hard for a physician or technician to predict the outcome of a pregnancy unless the baby in utero experiences negative organ issues.

Most fetuses conceived that have TS (approximately 98%) will spontaneously miscarry early in pregnancy, most often without the mother ever knowing the fetus had Turner syndrome. In these cases, miscarriage is caused by severe heart problems or fluid build-up so significant the brain and vital organs cannot develop properly. It is estimated that 1 out of every 2,000- 4,000 baby girls delivered has TS, so those featured throughout our website were born with TS despite the odds. Many parents in our community were told by doctors their baby would not survive through pregnancy, yet odds were defied week after week until she was born. It's a good sign if your daughter has made it past early pregnancy.

Q: What can we do to increase the chances of survival of our baby?

A: Follow the recommended guidelines for any pregnancy. At this time, aside from a possible heart surgery in utero when the baby is close to term, there are no special procedures or actions a parent can take to change the course of nature.

Q: The physician suggested termination; what should we do?

A: You are doing the right thing by getting all the facts about TS. Please review our website and even peek into the “My Story” section. We are a Society of women with TS and parents of girls with TS that want the best for those with Turner syndrome and believe knowledge is power.

Q: Will the baby be okay after she is born?

A: TS is similar to a spectrum disorder in that there is a large range of abilities. In the general population, there are very few people that can’t live independently and there are very few people that are super intelligent but there are many people with different abilities in between. The same is true for those with Turner syndrome. Some women never live independently, while others are physicians. Most others fall somewhere in between. The most popular field of work for those with TS is the healthcare industry; the second most popular is education. Medically, issues related to TS are screened for before the baby leaves the hospital, and treatment of any known problems will be discussed with the parents. Cardiac issues are the #1 medical need of emergency surgery for those with TS and although some girls and women with TS do not have heart issues others display their scars as a badge of honor.

Q: Are there special precautions parents should take during the pregnancy?

A: Carrying a baby with TS is considered a high-risk pregnancy, and you should be monitored by a high-risk pregnancy specialist and have access to both a neonatologist and a pediatric endocrinologist at delivery.

Home delivery is not generally recommended for any high-risk pregnancy, but that doesn't mean it cannot happen. Your individual situation should be discussed with your physician and the midwife associated with that practice.