How is Turner syndrome treated?

Updated: Mar 19, 2021
  • Author: Maala S Daniel, MBBS; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

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. [14]

In childhood, growth hormone therapy is standard to prevent short stature as an adult. [15, 16, 17]  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. [38]  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 . [30]  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 [19] , and may be preferred treatment, if tolerated. [10]

Growth hormone may have long-term favorable effects on lipids, even after it is discontinued. [18]

Androgen replacement therapy is not the standard of care [10] , but may have favorable effects. [20]

 


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