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.
- Wide short neck
- Broad chest
- Square torso
- Cubitus valgus, a deformity of outward turned arms
- Malformation of fingers (short 4th and 5th metacarpals)
- Short Stature, the cardinal indication commonly seen in Turner Syndrome.
- Increase in scoliosis and osteopenia
- Knock knees
- Madelung deformity
This photo is an example of Madeleung deformity
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.
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.
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
- excessive alcohol use
- 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.
Young women with Turner syndrome did not incur fractures more frequently than those without the disease; however, fracture location differed between the two groups, according to study results. Halley M. Wasserman, MD, assistant professor at Cincinnati Children’s Medical Center… read more
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.
Endocrine Today 5/21/18, Wasserman H, et al. Clin Endocrinol. 2018;doi:10.1111/cen.13614.
Bone Health FAQ’s (frequently asked questions)
To read more about bone health, scroll to page(s) G39 in the Clinical Guidelines found here: https://turnersyndromefoundation.org/wp-content/uploads/2017/07/Clinical-Practice-Guideslines-International-G1-2017.full_.pdf