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How to diagnose turner syndrome

Diagnosis and Testing

How do I get 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.

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.

May-Thurner Syndrome can be treated via a combination of medication and minimally invasive surgery to reduce symptoms and reduce the risk of further complications.

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What Is May-Thurner Syndrome?

How to diagnose turner syndrome

The iliac arteries originate from the largest artery in the body, the abdominal aorta. They split at the spine to form the left and right iliac arteries, which feed blood to the pelvis and legs. The right iliac artery is supposed to lie over the left iliac vein, but with this syndrome this artery is compressing the vein. As a result of this compression, the iliac vein narrows and constricts, sometimes scarring. This narrowing results in increased risk of developing blood clots or deep vein thrombosis in that extremity.

Why Do I Have May-Thurner Syndrome?

This condition is congenital but not hereditary and is more common in women than men. It shows up more frequently in young women taking birth control medication, as women age or as they gain weight. Many people may be unaware that they have this disorder, because many may only have some degree of compression of the iliac vein. Only a small number of individuals have severe compression of the iliac vein, resulting in symptoms, namely blood clots in the deep veins of the leg.

How Is May-Thurner Diagnosed?

Diagnosis is achieved by a combination of physical examination and diagnostic testing. Diagnosis may also occur when patients present with symptoms of a deep vein thrombosis (DVT- please see this section of venous conditions) and further testing is completed.

Tests to confirm diagnosis include:

  • Duplex ultrasound
  • Computed tomography scan (CT)
  • Intravascular ultrasound
  • Angiography

What Are My Treatment Options for May-Thurner Syndrome?

The goal of treatment is to reduce symptoms as well as reduce the risk of further complications.

  • Anticoagulant therapy: These medications thin your blood and prevent the current clot from increasing in size, as well as prevent new clots from forming. These medications do not dissolve the clots that you have. You may be on IV heparin for several days or an injection called Lovenox that is given in the abdomen once daily for 5 to 7 days. You will be started on a medication called warfarin (Coumadin), which is an anticoagulant pill. It can take about 3 days for this medication to have effect, so during that time you may be on both warfarin and heparin. You may be on this medication for up to 6 months, during which time routine blood tests are required to ensure your blood is at the appropriate thinness to prevent clots from forming.
  • Catheter-directed Thrombolytic Therapy: During this procedure, a thin flexible tube called a catheter is inserted into a puncture in the skin and guided into the affected blood vessel of the lung. A thrombolytic drug is injected which dissolves the clot over a period of time. There is a much higher risk of bleeding as well as stroke with this therapy, compared to anticoagulants.
  • Angioplasty and stenting: Once the clot has been removed from the vein, this procedure is performed to widen the compressed vein. A thin flexible tube called a catheter is inserted in a puncture over a vein in the leg. A small balloon at the tip of the catheter is inflated to stretch the iliac vein open, increasing blood flow to the leg. A small metal mesh tube called a stent is inserted through the catheter and guided to the ballooned area of the iliac vein. The stent will help hold the compressed area open and will remain in the vein permanently.
  • Inferior Vena Cava (IVC) filter: During this procedure, a thin flexible tube called a catheter is inserted through a vein in your leg, arm, or neck. The vascular surgeon passes a small special metal filter through the catheter and places it in the inferior vena cava, which is a large vein in your abdomen that carries blood back to the lungs. This filter traps clots that break away from leg veins, preventing them from travelling to your lungs. This is done if the patient cannot tolerate anticoagulation therapy.

Can May-Thurner Syndrome (MTS) Be Prevented?

Since May-Thurner Syndrome (MTS) increases risk of deep vein thrombosis (DVT) and complications associated with DVT, such as pulmonary embolism, prevention of these risks progressing to clinical events is prudent.

In the absence of DVT and for patients with only mild symptoms of left leg swelling or pain, conservative measures of prevention are used, specifically, compression stockings. These are also used if the severity of MTS requires more aggressive invasive interventions. Venous ultrasound imaging is helpful in ruling out more severe manifestations of MTS, such as DVT.

In advanced MTS that demonstrates signs and symptoms of advanced chronic venous insufficiency, such as limb swelling, pain, and skin discoloration, prevention of disease progression aims to reduce stenosis of the vein(s) using angioplasty and stents in the affected segments(s). Angioplasty alone results in a high recurrence rate. Thereafter, compression stockings are used.

In advanced MTS that results in venous thromboembolism (VTE), full anticoagulation therapy is begun (unless contraindicated by pre-existing coagulopathy). Catheter-directed or pharmaceutical thrombolysis is useful in eliminating the clots that may migrate. DVT requires anticoagulation according to the guidelines used in VTE prophylaxis.

Rarely, when more conservative or interventional measures are unsuccessful or contraindicated, an open cut-down may be necessary to evacuate the clot.

Prevention and follow-up utilize periodic venous ultrasound imaging.

Turner syndrome is usually identified during childhood or at puberty. However, it can sometimes be diagnosed before a baby is born using a test called amniocentesis.

Pregnancy and birth

Turner syndrome may be suspected in pregnancy during a routine ultrasound scan if, for example, problems with the heart or kidney are detected.

Lymphoedema, a condition that causes swelling in the body’s tissues, can affect unborn babies with Turner syndrome, and may be visible on an ultrasound scan.

Turner syndrome is sometimes diagnosed at birth as the result of heart problems, kidney problems or lymphoedema.

Childhood

If a girl has the typical characteristics and symptoms of Turner syndrome, such as short stature, a webbed neck, a broad chest and widely spaced nipples, the syndrome may be suspected.

It’s often identified during early childhood, when a slow growth rate and other common features become noticeable.

In some cases, a diagnosis is not made until puberty when breasts do not develop or monthly periods do not start.

Girls with Turner syndrome are typically short in relation to the height of their parents. But an affected girl who has tall parents may be taller than some of her peers and is less likely to be identified based on her poor growth.

Karyotyping

Karyotyping is a test that involves analysing the 23 pairs of chromosomes. It’s often used when Turner syndrome is suspected.

The test can either be carried out while the baby is inside the womb – by taking a sample of amniotic fluid (amniocentesis) – or after birth by taking a sample of the baby’s blood.

Page last reviewed: 07 July 2021
Next review due: 07 July 2024

This article was co-authored by Joshua Grahlman, PT, DPT, FAFS. Dr. Joshua Grahlman, PT, DPT, FAFS, is the Founder and Chief Athlete Mechanic of Clutch PT + Performance, a private physical therapy clinic specializing in sports and orthopedics in New York City. With more than a decade of experience, Dr. Grahlman specializes in treating acute and chronic pain and injuries, sports performance optimization and post-operative rehabilitation. Dr. Grahlman earned his Doctorate of Physical Therapy (DPT) from Columbia University College of Physicians and Surgeons. He is one of just a few DPTs in New York City recognized as a Fellow in Applied Functional Science through the Gray Institute for Functional Transformation (GIFT). He is certified in Active Release Technique and Spinal Manipulation and is a TRX Suspension Training Specialist. Dr. Grahlman has spent his career treating athletes of all levels, from Ironman Champions and Olympians to marathoner moms. He consults for Triathlete, Men’s Health, My Fitness Pal and CBS News.

There are 11 references cited in this article, which can be found at the bottom of the page.

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Carpal tunnel syndrome occurs when there is a pinch or pressure on the median nerve located between the palm of the hand and the forearm. This can cause inflammation, pain, numbness, and tingling, as well as a feeling of pressure in the fingers, wrist, and arm. [1] X Expert Source

Joshua Grahlman, PT, DPT, FAFS
Physical Therapist & Entrepreneur Expert Interview. 8 September 2020. There are numerous reasons why someone would develop this syndrome, such as underlying health conditions, overuse of the wrist, injury to the area, or the anatomy of your wrist. By diagnosing and treating the syndrome, a person can reduce the symptoms. [2] X Trustworthy Source Mayo Clinic Educational website from one of the world’s leading hospitals Go to source

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.

Here are some tips on approaching the TS conversation with your child:

  1. With an age-appropriate tone and vocabulary, do your best to openly talk with your child about their health. Include cognitive and social issues related to their TS diagnosis.
  2. If your child asks about why they are seeing multiple doctors for their treatment, try to explain it to them in a positive way. For example: “These different doctors will make sure you continue to live a healthy and happy life. It doesn’t necessarilyh mean something is wrong.”).
  3. Have anhonest and open conversation. Answer your child’s questions, and attentively listento their concerns. This will ensure the conversation will benefit both of you.
  4. Most importantly, take the time to reflect on your own emotions. Think about the journey that you and your child are going through before you speak with them.

Turner syndrome is characterised by gonadal dysgenesis and short stature. The diagnosis is confirmed by the karyotype 45 XO.

General examination

To diagnose Turner’s syndrome a detailed and full general examination is mandatory in the initial assessment of all patients.

Patients with Turner’s syndrome may have a short, webbed neck, low hairline at the back of the head and low set ears. Multiple moles or naevi, hearing problems, high arched palate, micrognathia and myopia may all be detected in some patients with Turner’s syndrome.

Height, weight, arm span and BMI

In children and young adults it is useful to plot growth against standardised charts to aid pubertal staging.

Patients with Turner’s syndrome and pseudopseudohypoparathyroidism tend to have short stature. Patients with paediatric Cushing’s may also present with short stature, obesity and abnormal sexual development.

Arms, carrying angles, hands and feet

Cubitus valgus – increased carrying angles – tend to occur in Turner’s syndrome.

Shortened metacarpals and metatarsals may be seen in Turner’s syndrome and pseudopseudohypoparathyroidism. Lymphoedema of the hands and feet may also be present in Turner’s syndrome, as can abnormalities of the nails, being small, spoon shaped or hyperconvex.

Examine for mirror movements

Synkinesis, or mirror movements, occur in Kallman’s syndrome.

Ask the patient to pinch first finger and thumb together repeatedly with one hand and watch to determine whether action is mirrored in other hand.

Palate and teeth

Dental hypoplasia and mal-alignment may occur with Kalmann’s syndrome. High arched palate and micrognathia may occur with Turner’s syndrome.

Olfactory and auditory nerves

Anosmia should be assessed formally where possible as this symptom may not be reported by the patient.

Deafness may occur in various congenital conditions and has an increased incidence in Turner’s syndrome.

Blood pressure

This should be assessed in both upper and lower limbs to screen for coarctation of the aorta in Turner’s syndrome.

Cardiovascular examination

This should be assessed thoroughly in patients with suspected hypogonadism to seek evidence of heart failure and for possible complications of Turner’s syndrome.

Breasts

Pubertal staging requires breast examination to be performed in all.

The chest tends to be broad, with increased nipple spacing in Turner’s syndrome.

Body hair

Secondary sexual hair should be assessed as part of pubertal staging and in all adults presenting with suspected hypogonadism.

Fine vellus hair is seen in patients with very low body mass and may be associated with hypothalamic hypogonadism.

External genitalia

Secondary sexual characteristics should be assessed as part of pubertal staging

Thyroid and thyroid status

Thyroid disease has an increased incidence in Turner’s syndrome.