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Turner Syndrome Treatment & Management

  • Author: Maala S Daniel, MBBS; Chief Editor: Luis O Rohena, MD  more...
 
Updated: Jun 17, 2016
 

Medical Care

Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Health supervision involves careful medical follow-up care, which includes screening for commonly associated chronic diseases. Early preventive care and treatment are also essential.[13]

In childhood, growth hormone therapy is standard to prevent short stature as an adult.[14, 15, 16] The results of a double-blind, placebo-controlled trial show that the combination of growth hormone and ultra-low-dose estrogen in childhood may improve growth in patients with Turner syndrome.[32] The ideal age for initiating treatment has not been established. Taller adult heights occur with the longest treatment durations before the start of puberty.

Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height. Estrogen is usually started at age 12-15 years. Treatment can be started with continuous low-dose estrogens at 12 years, or as early as 5 years .[24] These can be cycled in a 3-weeks on, 1-week off regimen after 6-18 months; progestin can be added later. Some authors believe that conjugated estrogens are contraindicated in pediatric patients.[10] Transdermal estrogens are associated with physiologic estrogen levels[18] , and may be preferred treatment, if tolerated.[10]

Growth hormone may have long-term favorable effects on lipids, even after it is discontinued.[17]

Androgen replacement therapy is not the standard of care[10] , but may have favorable effects.[19]

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Surgical Care

Patients are suspected of having a high risk of keloid formation. This must be taken into consideration if cosmetic surgery is contemplated because keloids may negate any gain from such procedures.

Subacute bacterial endocarditis (SBE) prophylaxis may be required prior to any dental or surgical procedure in women with cardiac valve disease to prevent SBE.

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Consultations

Endocrinologist

  • During childhood and adolescence, patients should visit a pediatric endocrinologist at regular intervals.
  • Attention should be paid to growth and development, thyroid status, and osteoporosis prevention with growth hormone, estrogens, and progestins.
  • Patients on growth hormone should be seen every 3-6 months.

Cardiologist

  • A cardiologist should evaluate all patients at diagnosis.
  • Patients with systemic hypertension or aortic valve anomalies are at higher risk for aortic dissection.
  • Patients found to have significant anomalies should have long-term follow-up care and possibly SBE prophylaxis.
  • Because of the risks of aortic root dilatation and mortality due to aortic dissection, cardiac evaluation (including echocardiography) may be worthwhile every 5 years, even in patients with normal findings on initial cardiovascular examination.
  • Patients contemplating pregnancy should have a complete cardiovascular evaluation prior to attempting assisted reproduction or conception.
  • Patients with a bicuspid aortic valve, coarctation of the aorta, or dilation of the aorta have a higher risk of dissecting aortic aneurysm or rupture.

Nephrologist or urologist

  • Almost a third of patients have renal anomalies that may require evaluation and follow-up care by a nephrologist. At a minimum, such patients should have a yearly urine culture and an annual measurement of BUN and creatinine levels.
  • Girls with horseshoe kidneys have an increased risk of Wilms tumor. Patients with horseshoe kidneys should have renal ultrasound examinations every 4-6 months until the age 8 years and every 6-12 months thereafter.

Psychologist

  • Overall psychological health is good, but specific perceptual weaknesses or learning disabilities may be present. Assessment of intelligence, learning ability, motor skills, and social maturity should be made prior to enrollment in kindergarten. [33]
  • Problems with math and with visual spatial skills (eg, map reading) are common.
  • Attention deficit hyperactivity disorder is more common in girls with Turner syndrome than in girls in general.
  • Intelligence is usually normal, but individuals with ring chromosomes may have impaired intelligence.
  • As with any chronic illness, attention should be paid to fostering healthy socialization and to appropriate career and vocational planning. Patients with Turner syndrome are more likely to be employed than other adult women, although less likely to be married. [34]

Genetics

  • Turner syndrome is not an inherited disorder, and the recurrence risk is low.
  • Because of infertility, the syndrome is rarely passed to offspring.
  • Consultation is helpful when the condition is diagnosed in utero or when Turner syndrome is suspected in the setting of a normal peripheral blood karyotype.
  • Patients should be tested for the presence of Y-chromosomal material using a Y-centromeric probe.
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Diet

Dietary requirements are similar to those of other children or adults.

  • Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU).
  • Patients should avoid obesity because it increases already high risks of hypertension and insulin resistance.
  • Patients with short stature require fewer calories than those of normal height.
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Activity

Physical activity should be encouraged as prevention for obesity and osteoporosis.

Eligibility for competitive sports should be established by a cardiologist after a comprehensive evaluation.[11]

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Contributor Information and Disclosures
Author

Maala S Daniel, MBBS Attending Physician, Division of Pediatric Endocrinology, Helen DeVos Children's Hospital

Maala S Daniel, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Medical Student Association/Foundation, Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Daniel C Postellon, MD Associate Professor or Pediatrics and Human Development, Michigan State University College of Human Medicine; Consulting Staff, Pediatric Endocrine Clinic, Helen DeVos Children's Hospital

Daniel C Postellon, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, Pediatric Endocrine Society, American Diabetes Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

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A patient with Turner syndrome is shown. This posterior view shows a low hairline and a shield-shaped chest. Note the narrow hip development.
Lymphedema of the feet in an infant is shown. The toes have the characteristic sausagelike appearance.
Hyperconvex nails in Turner syndrome. Note U-shaped cross section.
Generalized lymphedema is seen here in an infant with Turner syndrome. The loose skin folds around the neck will form a webbed neck later in life.
 
 
 
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