From the Guidelines
Patients with Turner syndrome should have their aortic diameter indexed to body size by calculating the Aortic Size Index (ASI) if they are ≥15 years old, as this provides a more accurate assessment of aortic dissection risk compared to using absolute aortic diameters alone. This approach is recommended because individuals with Turner syndrome have short stature, which can lead to underestimation of aortic dissection risk when using absolute aortic diameters 1. Key points to consider in the management of Turner syndrome include:
- Using the ASI, which is calculated by dividing the maximal aortic diameter by the body surface area (BSA), with an ASI >2.0 cm/m2 considered abnormal and an ASI ≥2.5 cm/m2 associated with an increased risk of aortic dissection 1.
- In children <15 years old, using a Turner syndrome-specific z-score to assess for aortic dilation is preferred 1.
- Regular medical monitoring is essential and should include cardiac evaluations for congenital heart defects, kidney ultrasounds, hearing tests, thyroid function tests, and bone density scans.
- Growth hormone therapy and estrogen replacement therapy are important components of medical management to improve final adult height and induce puberty, respectively [no specific reference provided in the evidence, but based on general medical knowledge].
- Early diagnosis through genetic testing allows for timely intervention and improved outcomes, enabling most women with Turner syndrome to lead healthy, fulfilling lives [no specific reference provided in the evidence, but based on general medical knowledge].
From the Research
Definition and Characteristics of Turner Syndrome
- Turner syndrome is a rare condition in women associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes 2.
- It is characterized by short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, endocrine disorders, osteoporosis, and autoimmune disorders 2.
Diagnosis and Management
- The average age at diagnosis is around 15 years of age, despite an often conspicuous phenotype, and the diagnostic delay can be substantial 2.
- A multidisciplinary approach to care is necessary, involving multiple specialty fields, including growth hormone therapy and hormone replacement therapy 2, 3.
- The optimal estrogen replacement regimen is still being studied, but treatment should begin at age 11 to 12 years, with dose increases over 2 to 3 years 4, 5.
Treatment Options
- 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.
- Growth hormone treatment increases adult height in patients with Turner syndrome, and combining childhood ultra-low-dose estrogen with growth hormone may improve growth and provide other potential benefits 6.
- A well-planned transition to adult follow-up care, including screening for comorbidities and addressing psychosocial issues, is essential for optimizing health care delivery 3.
Hormone Replacement Therapy
- The goals of hormone replacement therapy are to mimic normal timing and progression of physical and social development, while minimizing risks 4, 5.
- Transdermal estrogen and oral progestin are recommended for adults who have undergone pubertal development, with other approaches discussed in the literature 4.
- The risks and benefits of different types of preparations, including examples, are discussed in the literature 4.