The treatment of Turner syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, pediatric specialists, surgeons, cardiologists, endocrinologists, speech pathologists, otolaryngologists, ophthalmologists, psychologists, and other healthcare professionals may need to systematically and comprehensively plan an affect child's treatment. Genetic counseling may be of benefit for affected individuals and their families.
Specific therapeutic procedures and interventions may vary, depending upon numerous factors, such as disease severity; the presence orabsence of certain symptoms; an individual's age and general health; and/or other elements. Decisions concerning the use of particular drug regimens and/or other treatments should be made by physicians and other members of the health care team in careful consultation with the patient based upon the specifics of his or her case; a thorough discussion of the potential benefits and risks, including possible side effects and long-term effects; patient preference; and other appropriate factors.
There is no cure for Turner syndrome, but therapies have been developed that can improve physical development. With proper medical care, females with Turner syndrome should be able to lead full, productive lives. The primary therapies for affected individuals are growth hormone therapy and estrogen therapy.
Individuals with Turner syndrome may benefit from growth hormone (GH) therapy, which can help to normalize height. The Food and Drug Administration (FDA) has approved the use of recombinant GH for the treatment of children with Turner syndrome. Recombinant GH is artificially created in a lab. The best age for beginning GH therapy and the optimum duration of therapy in females with Turner syndrome is unknown. Generally, the earlier GH therapy is started, the more beneficial it tends to be for affected individuals. However, there are many individual factors that ultimately determine the effectiveness of GH therapy. GH may be given in conjunction with an anabolic steroid drug such as oxandrolone. Decisions regarding GH therapy in individuals with Turner syndrome are best made after consultation with a pediatric endocrinologist.
Most females with Turner syndrome require sex hormone replacement therapy in order to undergo normal development associated with puberty and to begin their menstrual periods. Estrogen and progesterone replacement therapy will generally promote puberty and the development of secondary sexual characteristics. Hormone replacement therapy is usually begun around 12-14 years of age. Replacement therapy must be continued in order to maintain these characteristics and most women will require estrogen and progesterone therapy until menopause.
Most individuals with Turner syndrome remain unable to conceive children. In vitro fertilization (IVF) with a donor egg and an implanted pregnancy is sometimes possible. In most cases, these pregnancies carry risks and require close consultation with a patient's healthcare team.
Females with Turner syndrome and Y chromosome material (Y chromosome mosaicism) are at an increased risk of developing a tumor of the gonads. In such cases, it is recommended that the non-functioning ovaries be removed.
Additional treatment is symptomatic and supportive. For example, thyroid hormone replacement therapy may be used to treat individuals with thyroid disease.
Early intervention is important in ensuring that children with Turner syndrome reach their potential. Special services that may be beneficial to affected children may include special psychosocial support, speech therapy, and other such services.