Health Concerns
 

Turner Syndrome is a spectrum disorder, consisting of a combination of typical major symptoms and signs—essential to the diagnosis—together with minor findings, some or all of which may be absent.  This is a brief purview of some, but not all of the affects associated with Turner Syndrome.

Anxiety and Depression
Attention Deficit (Hyper) Disorder
Autoimmune Diseases
Cardiac
Cancer
Celiac Disease
Dental and Oral Care
Developmental Delays
Diabetes
Ears and Hearing
Eyes and Vision
Growth
Hormone
Hypertension
Infertility
Liver
Lymphatic System
Ovarian Function
Renal Function
Skeletal and Bone
Skin and Nails
Therapeutic Interventions 
Thyroid

Physician Support
The primary care pediatrician should review the psychologic support available to the child and family to optimize the child’s psychosocial adjustment; encourage family support by referral to other individuals with Turner syndrome, parents of children with Turner syndrome, or a Turner syndrome support group; and supply the family with literature on Turner syndrome (see Additional Professional Information and Resources for Parents).

Specialized centers for Turner Syndrome
Many specialized centers will host patient support groups.
Learn more about these centers

Psycho-social aspects and resources
Learn more about this information

Summer camps
Specialized summer camps offer enrichments and a bonding experience for girls with Turner Syndrome.
Learn more about summer camps


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Attention Deficit (Hyper) Disorder

Autoimmune Disease



Autoimmune disorders that appear to be more prevalent in individuals with Turner syndrome than the general population include Hashimoto thyroiditis, celiac disease, inflammatory bowel disease, and juvenile rheumatoid arthritis. Individuals with Turner syndrome are at especially high risk of developing hypothyroidism, but this rarely occurs before 4 years of age. 

All patients should be screened annually for autoimmune thyroid disease at the age of 4 years.
The risk of celiac disease is present in 4 - 6% of individuals. Girls should be screened at age four and repeated every 2 - 5 years.

Boston Children’s Hospital. Celiac Disease. 
Celiac Disease Rates Up to Five Times Higher in Adults with Turner Syndrome read article 
Turner Syndrome Support Group New Zealand. Marina’s Story: Living with Celiac Disease.

RESOURCES for celiac disease
click link for more information

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Cardiac Issues
The aorta carries blood from the heart to the vessels that supply the body with blood and nutrients. If part of the aorta is narrowed, it is hard for blood to pass through the artery.

Aortic coarctation is more common in persons with certain genetic disorders, such as Turner syndrome.

Aortic coarctation is one of the more common heart conditions that are present at birth (congenital heart conditions). It is usually diagnosed in children or adults under age 40.
This condition may be related to cerebral aneurysms, which can increase the risk for stroke.

Coarctation of the aorta may be seen with other congenital heart defects, such as:
• Bicuspid aortic valve
• Defects in which only one ventricle is present
• Ventricular septal defect

Typically, screening for this defect is done at the time of diagnosis and throughout the lifespan to view any changes. In recent findings, it is essential for patients to have a cardiac MRI to visualize the architecture of the heart early in life as soon as the child can be viewed without sedation.

Cardiac Evaluation and Management 
A congenital heart defect (CHD) occurs in approximately 30% of patients with TS. Of those with a CHD, left-sided obstructive defects predominate, especially bicuspid aortic valve (BAV; 30–50%) and coarctation of the aorta (COA) (30%). Aortic root dilation is uncommon (5%), but potentially devastating if rupture occurs. It is usually associated with a risk factor such as BAV, COA, or hypertension.

Lipids
Hypertension is more common in patients with TS than in the general population. Blood pressure should therefore be monitored routinely and hypertension treated vigorously with reference to age-specific normal ranges . Dyslipidemia should be treated with specific lipid-lowering drugs .

A Specialists Perspective: Cardiovascular System Concerns
Since Turner syndrome was first described in 1938, pediatric 
endocrinologists, cardiologists and other specialists have done
 extensive research to better understand the disorder and improve
 quality of life for patients. Many advancements in the treatment of 
the disease have been made; at present, for example, growth hormone
 therapy can increase final adult height in women with Turner Syndrome,
 and assisted reproductive techniques can help women achieve
 pregnancy.

 However, there is still work to be done to improve care for patients 
with Turner Syndrome, and there are some known issues in the disease 
that are being examined. One such issue is the increased risk of 
certain cardiovascular problems, and although rare and perhaps outside
 the scope of an endocrinologist’s treatment for the disease, aortic
 dilation, dissection and rupture remain major concerns for experts 
caring for girls and women with Turner syndrome.

 “Endocrinologists don’t necessarily have anything to do with, say, the
 treatment of cardiovascular problems, but they have to make sure that 
it gets done and that the patients get referred,” Paul Saenger, MD,
MACE, professor of pediatrics, Albert Einstein College of Medicine,
told Endocrine Today. “Many of these patients with Turner syndrome see
 adult endocrinologists and never get an MRI done because [the
 endocrinologist] doesn’t think about it. Then, the patient gets
 pregnant and they run into problems.”

For this reason and others, a multidisciplinary approach to treatment 
of Turner syndrome would help provide the best possible care for these
 patients. 

 


Paul Saenger, MD, MACE, is Professor or Pediatrics at Albert Einstein
College of Medicine, NY


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Cancer

• Clean your child’s mouth twice a day even if he/she does not have teeth yet. Wipe his/her gums with gauze. Anything that touches someone else’s mouth should not be allowed to touch his/her mouth.
• Once the first tooth appears, use a soft-bristled toothbrush and water to brush your child’s teeth.
• Children should have their first dental visit around the time of their first tooth eruption and no later than age 1.
• There should be 20 teeth in your child’s mouth by age 3.
• Never put your child to sleep with a bottle containing anything but water. 
• Routine exams should occur every six months or as determined by your child’s dentist.
• Once your child learns not to swallow toothpaste, brush his/her teeth with a rice-sized speck of fluoride toothpaste.

Developmental Delays

Diabetes

Glucose Intolerance
Glucose intolerance occurs more frequently in persons with Turner syndrome than in the general population; however, diabetes mellitus seems to be rare. Monitoring of fasting blood glucose concentrations should be considered in girls who are significantly overweight, have a strong family history of type 2 diabetes mellitus, are Hispanic or African American, or have signs of insulin resistance, such as acanthosis nigricans.


 

Obesity
Obesity is a problem in Turner syndrome. Diet and exercise for weight control should be part of a healthy lifestyle. Women with Turner are at a moderately increased risk of developing type I diabetes in childhood and a substantially increased risk of developing type II diabetes by adult years.  The risk of developing type II diabetes can be substantially reduced by maintaining a normal weight.  The reason for the high risk for diabetes amongst individuals with Turner is unknown. Type II diabetes can be controlled through careful monitoring of blood-sugar levels, diet, exercise, regular doctor visits and sometimes medication.  The incidence is not increased by treatment with growth hormone.

Healthy women with Turner syndrome are characterized by:

• Impaired glucose tolerance
• Insulin resistance
• Low physical capacity
• Enlarged type IIa muscle fibers, indicating diminished oxygen and substrate supply for metabolic processes.
• These findings could be indicative of a prediabetic state.

• Self-monitoring: Be aware of the certain risks associated with obesity.
• Stimulus control: Creating stimulus control to increase awareness, physical activity, healthy food choices and an optimistic outlook.
• Contingency management: goal setting, reinforcement, and contracting
• Modeling and social skills
• Cognitive skills: reframing, self-efficacy, problem solving, relapse prevention
• Focus on health rather than appearance
• Encourage preference for healthful foods, awareness of hunger and satiety
• Emphasize physical activity
• Teach behavior change techniques
• Use social support
• Improve parent-child interaction

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Ears and Hearing

Hearing
Conductive and sensorineural hearing loss are common in girls with TS. The outer, middle, and inner ear are all affected, and hearing problems and ear malformations correlate with the karyotype.

Outer ear
Mild malformation of the outer ear and low set ears occur in 30–50% of individuals with TS.


Middle Ear 
Otitis media is extremely common in girls with TS and may progress to mastoiditis and/or cholesteatoma formation. It occurs particularly between 1 and 6 yr of age, with a maximum incidence (>60%) at 3 yr of age. The cause is still unknown, but growth retardation of the temporal bone may be important. Aggressive treatment of otitis media is appropriate, and insertion of ventilation tubes should be considered. Careful follow-up is important. Patients with chronic middle ear problems should be operated on without delay to prevent sequelae. Short girls with extensive otitis media problems should be referred to an endocrinologist if TS has not previously been diagnosed.

Inner Ear
The majority (50–90%) of women with TS have sensorineural hearing loss, manifest by a sensorineural dip in the 1.5–2 kHz region, sensorineural high frequency loss, or all of these. The sensorineural dip can occur as early as 6 yr of age and occasionally leads to hearing impairment during childhood. The condition is progressive, however, and commonly leads to hearing problems in later life, which may have serious social consequences.



Part C Eligibility Considerations: For Infants and Toddlers Who are Deaf or Hard of Hearing - National Center for Hearing Assessment and Management 2012

View White Papers on Ears and Hearing
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Eyes and Vision

Ophthalmological evaluation should be part of the regular physical examination. These are some possible issues:

Strabismus can be either a disorder of the brain in coordinating the eyes, or of one or more of the relevant muscles' power or direction of motion.

Amblyopia, also known as lazy eye, is a disorder of the visual system that is characterized by a vision deficiency in an eye that is otherwise physically normal, or out of proportion to associated structural abnormalities of the eye. It has been estimated to affect 1–5% of the population.

Ptosis is a drooping or falling of the upper or lower eyelid. 
 

Growth

• Initiate treatment at a young age.
• Are relatively tall at start of treatment.
• Are short in relation to their parents.
• Are treated with high doses of GH.

Hormone

Hypertension

Up to 40% of girls with Turner syndrome have hypertension, and when identified, it should be treated vigorously. Although in most cases hypertension is of unknown cause, a careful search for cardiovascular or renal causes should be made.

Blood pressure
Blood pressure should be monitored at each physical examination.
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Infertility

Liver

80 percent of women have increased liver parameters. 
 

Lymphatic System

• Lymphedema is abnormal swelling due to the presence of excess lymphatic fluid within the tissues. This swelling occurs when the lymphatic system malfunctions or is damaged and lymphatic fluid cannot drain as quickly as produced.
• Lymphedema affects an estimate 100 million men, women, and children around the world including at least 3 million Americans.
•  Lymphedema occurs most commonly in the extremities (arms, or legs); however, it can also affect the trunk, breast, abdomen,   neck, head, and or genitals.
• The fluid that causes the swelling of lymphedema is protein-rich and this makes the tissue easily susceptible to infections.
• Lymphedema is a chronic condition that can be treated but not cured. Early treatments can usually effectively control the condition.
• Without treatment, the lymphedema symptoms become progressively more serious. The seriousness of the condition is described as Stages of Lymphedema.
• The onset of lymphedema can be sudden, gradual, or delayed so that it appears years after the causative event.

• Lymphedema praecox, also known as Meige disease, is primary lymphedema in which the symptoms begin at the time of puberty. Most cases of primary lymphedema present symptoms at this age and this condition affect mostly girls with symptoms in the lower extremities.
• Lymphedema tarda, is a primary lymphedema that occurs in adults and affects both males and females. The onset of symptoms in sudden, with no apparent cause, and can affect one or both of the lower extremities.

• Cancer treatment that involves the removal of the lymph node or their destruction due to radiation or chemotherapy. Shown here is secondary lymphedema following cancer treatment.
• Scars due to burns radiation treatment, or other damage to large areas of the skin.
• Trauma including all types of accidents, injuries, and surgery that damage to the lymphatic system.
• Those with chronic venous insufficiency can develop lymphedema as a secondary condition.
• Those who are obese can develop lymphedema as a secondary condition.

Ovarian Function

Renal Function

Urinary Tract Abnormalities

Approximately one third of patients with Turner syndrome have a structural malformation. Rotational abnormalities and double collecting systems, or abnormal vascular supply are found most frequently. Although many of these abnormalities do not have clinical significance, some may result in an increased risk of hypertension, urinary tract infections, or hydronephrosis. Therefore, all individuals with TS should have a renal ultrasound study performed at the time of diagnosis. If abnormalities are detected, further evaluations should be performed, and the appropriate therapy instituted. Additionally, in such individuals, ultrasound and urine cultures should be performed every 3–5 years.


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Skeletal and Bone
Orthopedic evaluation
Infants with TS have an increased risk of congenital hip dislocation, which may be associated with degenerative arthritis of the hips in older women. Approximately 10% of girls with TS develop scoliosis, most commonly during adolescence.

Characteristics:
Wide short neck, broad chest and square torso, outward turned arms, short metacarpal, and the cardinal indication short stature are commonly seen in Turner Syndrome. 


Orthopedic Problems
Congenital developmental dysplasia of the hip occurs more frequently in girls with Turner syndrome than in the general population. This contributes to the development of arthritis of the hips in older individuals. Girls with Turner syndrome also have an increased risk of scoliosis, over curviture of the over-curvature of the thoracic vertebrae, or swayback an overexagerated curve in the lower spine.

Orthodontic Issues
The small and retrognathic mandible may contribute to malocclusion and other dental abnormalities. An orthodontic examination should therefore be undertaken at 8–10 yr of age.

Craniofacial Anomalies
If craniofacial anomalies cause concern, consider plastic surgery for the neck, face, or ears before the child enters school or thereafter, as indicated. Some individuals with Turner syndrome have a tendency to form keloids, which must be taken into account when surgery is considered.



There is a high incidence of osteoporosis—meaning thin or weak bones—in women with Turner syndrome. Osteoporosis leads to loss of height, curvature of the spine and increased bone fractures.

The primary cause of osteoporosis in individuals with Turners appears to be inadequate circulating estrogen in the body. Turner women who have low levels of estrogen due to ovarian failure can take estrogen treatments, which will help prevent osteoporosis. It is possible that other factors contribute to the severity of osteoporosis in Turner syndrome. For example, there may be defects in bone structure or strength related to the loss of unknown X-chromosome genes. This is an area of major medical significance, which demands further study to help prevent osteoporosis and fractures in women with Turner syndrome.

What is osteoporosis?
Osteoporosis, or porous bone, is a disease in which there is a loss of bone mass and destruction of bone tissue. This process causes weakening of the bones and makes them more likely to break. The bones most often affected are the hips, spine, and wrists.

Who is affected by osteoporosis?
Osteoporosis affects over 10 million Americans, with women four times more likely to develop osteoporosis than men. Another 34 million have low bone mass and therefore have an increased risk for osteoporosis. Estrogen deficiency is one of the main causes of bone loss in women during and after menopause. Women may lose up to 20 percent of their bone mass in the five to seven years following menopause.
Other risk factors for osteoporosis:
Although the exact medical cause for osteoporosis is unknown, a number of factors contribute to osteoporosis, including the following:

• Aging
 bones become less dense and weaker with age.
• Race - 
Caucasian and Asian women are most at risk, although all races may develop the disease.
• Body weight - 
Obesity is associated with a higher bone mass, therefore people who weigh less and have less muscle are more at risk for developing osteoporosis.
• Lifestyle factors:
  The following lifestyle factors may increase a person's risk of osteoporosis:
  • physical inactivity
  • caffeine
  • excessive alcohol use
  • smoking
  • dietary calcium and vitamin D deficiency
• Certain medications
• Family history of bone disease

What are the symptoms of osteoporosis?
Persons with osteoporosis may not develop any symptoms, or may have pain in their bones and muscles, particularly in their back. The symptoms of osteoporosis may resemble other bone disorders or medical problems. Always consult your physician for a diagnosis.

How osteoporosis is diagnosed:
In addition to a complete medical history and physical examination, diagnostic procedures for osteoporosis may include the following:

• Family medical history
• X-rays (skeletal) - a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
• Bone density test (Also called bone densitometry.) - measurement of the mass of bone in relation to its volume to determine the risk of developing osteoporosis.
• Blood tests (to measure serum calcium and potassium levels)

The effects of this disease can best be managed with early diagnosis and treatment.
Treatment for osteoporosis:

Specific treatment for osteoporosis will be determined by your physician based on:

• Your age, overall health, and medical history
• Extent of the disease
• Your tolerance for specific medications, procedures, or therapies
• Expectations for the course of the disease
• Your opinion or preference

The goals of managing osteoporosis are to decrease pain, prevent fractures, and minimize further bone loss. Some of the methods used to treat osteoporosis are also the methods to help prevent it from developing, including the following:

• Maintain an appropriate body weight.
• Increase walking and other weight-bearing exercises.
• Minimize caffeine and alcohol consumption.
• Stop smoking.
• Maintain an adequate intake of calcium through diet and supplements. Vitamin D is also necessary because it facilitates the absorption of calcium.
• Prevent falls in the elderly to prevent fractures (i.e., install hand railings, or assistive devices in the bathroom, shower, etc.).
• Consult your physician regarding a medication regimen.

For postmenopausal osteoporosis in women, the US Food and Drug Administration (FDA) has approved the following medications to maintain bone health:

• estrogen replacement therapy (ERT) and hormone replacement therapy (HRT)
ERT has proven to reduce bone loss, increase bone density, and reduce the risk of hip and spinal fractures in postmenopausal women. However, a woman considering ERT should consult her physician, as the recent study conducted by the National Heart, Lung, and Blood Institute of the National Institutes of Health (NIH) found health risks associated with this therapy.
• alendronate
This medication, from a group of medications called bisphosphonates, reduces bone loss, increases bone density, and reduces the risk of fractures.
• risedronate sodium (Actonel®)
This medication is also from the bisphosphonate family and has similar effects as alendronate.
• raloxifene (Evista®)
This medication is from a new group of medications called selective estrogen receptor modulators (SERMs) that help to prevent bone loss.

While this information is provided to be helpful, it is not meant to be medical advice. Consult your physician if you have any questions or concerns.

Source:
http://www.rwjuh.edu/health_information/adult_orthopaedics_osteopor.html

Resources:
Turner syndrome and osteoporosis: mechanisms and prognosis.
http://www.ncbi.nlm.nih.gov/pubmed/9685448
Vitamin D in the New Millenium white paper
Vitamin D Synopsis, Everything You Need to Know, by Sunil Wimalawansa pdf
Bone Health FAQ's (frequently asked questions)

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Skin and Nails

Therapeutic Interventions

Occupational Therapy

Occupational therapists are trained to assist people of all ages to perform the functional tasks that normally occupy their lives. The "occupations" of childhood are play, activities of daily living (feeding, toileting, dressing, grooming, mobility), learning and school performance; learning skills in order to become functional and independent adults.

Education and strategies to modify or compensate to improve function and abilities are taught to achieve the individuals highest level of independence and overall quality of life.

These skills include:

• Regulation of arousal level in order to attend
• Refinement of sensory processing and discrimination
• Continual refinement and development of motor skills(gross & fine)
• Development of communication skills
• Appropriate engagement/affect and social interactions
• Language and cognitive skills
• Age appropriate self care skills
• Developing a positive self concept

Some examples:

• Girl’s with Turner Syndrome usually walk late and have poor coordination. OT can address motor skills and coordination through gross motor activities, sensory activities and play to increase balance, coordination, motor planning, strengthening and endurance.
• Girl’s with Turner Syndrome often have trouble with executive processing, planning and flexibility.  OT can help the client develop and utilize the skills to be able to accept change and increase flexibility and help the client to express concerns and frustrations in an appropriate manner.
• Girls with Turner Syndrome require more structure to socialize and to complete tasks, and experience increased difficulty in understanding and interpreting social cues. OT can focus on building and understanding social skills by modeling age appropriate interactions, providing lessons, and forming instructional social groups.

Speech

Girls with TS often have speech problems, speech therapist is recommended.
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Thyroid Dysfunction 
Between 10–30% of individuals with TS develop primary hypothyroidism, Hashimoto thyroiditis.  Levels should be measured at the time of diagnosis and at intervals of 1–2 years thereafter.
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