What Medical Problems Can Patients with Turner Syndrome Have?
Discussion Turner Syndrome (TS) is one of the most common genetic disorders in females. It was first described by Dr. Henry H. Turner in 1938. It affects 1 in 2000-2500 births and ~70,000 girls and women have TS in the United States. It is caused by the absence of all or part of the second X chromosome. The most common variation is 45X which affects about 50% of TS patients and usually has the most complications, but there are other variations. Phenotypes vary and therefore the age of diagnosis varies. Mean age of diagnosis unfortunately is 15 years. Diagnosis is made by chromosomal analysis. Haploinsufficiency of the SHOX gene is associated with short stature in Turner syndrome. Patient presentations depend on age and phenotype. Most (almost all) TS patients have short stature and primary ovarian failure, but patients can have a variety of medical problems. Patients need comprehensive management from a variety of specialists to address their medical and psychosocial needs throughout their lifetime. Recommendations for comprehensive management can be found in the To Learn More section below. Learning Point Medical problems that patients with Turner Syndrome can have include: *Short stature/growth retardation – almost 100% of patients Short stature occurs in almost all patients with an average of 8 in (20 cm) shorter than predicted mid-parental height. Final adult height has been dramatically improved with growth hormone treatment. Short stature or growth failure are ...
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