From the Guidelines
Patients with Turner syndrome should undergo cardiac imaging, including TTE and cardiac MRI, at the time of diagnosis to evaluate for congenital heart defects and aortic dilation, and surveillance imaging should be performed every 5 years in children and every 10 years in adults, as well as before planning a pregnancy. Turner syndrome is a genetic disorder that affects females, caused by complete or partial absence of one X chromosome, and is characterized by short stature, ovarian failure, and distinctive physical features 1. Approximately 50% of patients with Turner syndrome have cardiovascular defects, including bicuspid aortic valve (BAV), aortic coarctation, and ascending aortic dilation 1.
Key Recommendations
- In patients with Turner syndrome, TTE and cardiac MRI are recommended at the time of diagnosis to evaluate for BAV, aortic root and ascending aortic dilation, aortic coarctation, and other congenital heart defects 1.
- The use of the ASI (ratio of aortic diameter [cm] to BSA [m2]) is recommended to define the degree of aortic dilation and assess the risk of aortic dissection in patients with Turner syndrome who are ≥15 years old 1.
- Surveillance imaging with TTE or MRI to evaluate the aorta is recommended every 5 years in children and every 10 years in adults, as well as before planning a pregnancy, in patients with Turner syndrome without risk factors for aortic dissection 1.
- In patients with Turner syndrome and an ASI >2.3 cm/m2, surveillance imaging of the aorta is recommended at least annually 1.
- Surgical intervention to replace the aortic root, ascending aorta, or both may be considered in patients with Turner syndrome who are ≥15 years old and have an ASI of ≥2.5 cm/m2 plus risk factors for aortic dissection 1.
Importance of Regular Monitoring
Regular medical monitoring is essential for patients with Turner syndrome, including cardiac evaluations, screening for hearing loss, autoimmune thyroid disease, celiac disease, and metabolic disorders 1. Psychological support is also important, as some girls may experience learning difficulties, particularly in spatial-visual organization and mathematics. Despite these challenges, with appropriate medical care and support, most women with Turner syndrome can lead healthy, fulfilling lives, though most will require fertility treatments if they wish to have children.
From the Research
Definition and Characteristics of Turner Syndrome
- Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females, resulting in a range of clinical findings including lymphedema, cardiac anomalies, short stature, primary ovarian failure, and neurocognitive difficulties 2.
- TS is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, endocrine disorders, osteoporosis, and autoimmune disorders 3.
Management and Treatment of Turner Syndrome
- A multidisciplinary approach to care is necessary to manage TS, as it affects multiple organs throughout life 2, 3.
- Optimizing health care delivery is crucial to enable individuals with TS to achieve their full potential 2.
- Estrogen replacement therapy is commonly used to induce pubertal development and maintain secondary sex characteristics in individuals with TS 4, 5.
- The optimal estrogen replacement regimen is still being studied, but treatment should begin at age 11-12 years, with dose increases over 2-3 years 4, 5.
Estrogen Replacement Therapy
- Initiation with low-dose estradiol is crucial to preserve growth potential, and delaying estrogen replacement may be deleterious to bone and uterine health 4, 5.
- Transdermal estrogen and oral progestin are recommended for adults who have undergone pubertal development 5.
- The use of conjugated estrogens is not recommended, and ethinyl estradiol should only be prescribed when other options are unavailable 5.
- A study found that using very low doses of systemic estradiol to induce puberty before the age of 15 years in girls with TS who are treated with growth hormone can result in increased final heights 6.