What is the recommended care for a 22-year-old female with Turner syndrome?

Comprehensive Care for a 22-Year-Old Female with Turner Syndrome

A 22-year-old woman with Turner syndrome requires lifelong hormone replacement therapy with transdermal estradiol (100-200 μg/day) plus cyclic progestogen, annual cardiovascular surveillance including blood pressure and metabolic monitoring, bone density assessment, and multidisciplinary care addressing fertility, psychological wellbeing, and cardiovascular risks. 1

Hormone Replacement Therapy

HRT is the cornerstone of management and should be continued at least until age 50-53 (the average age of natural menopause). 1

Estrogen Replacement

• Transdermal estradiol is strongly preferred over oral formulations due to better bone mineral density outcomes and avoidance of first-pass hepatic metabolism 1, 2
• Adult maintenance dose: 100-200 μg/day via weekly patch 2
• Transdermal estradiol provides superior lumbar spine BMD compared to oral ethinyl estradiol 1

Progestogen Addition

• Cyclic progestogen is mandatory in women with an intact uterus to protect the endometrium 1
• Options include oral micronized progesterone 100-200 mg/day for 12-14 days per month, or dydrogesterone 5-10 mg/day for 12-14 days per month 2
• Vaginal progesterone combined with transdermal estradiol shows more beneficial effects on BMD than oral formulations 1

Critical HRT Benefits

• HRT is cardioprotective when initiated early and reduces future cardiovascular disease risk 1
• Provides bone protection and prevents osteoporosis 1
• HRT does not increase breast cancer risk before the natural age of menopause 1

Cardiovascular Surveillance

All women with Turner syndrome require evaluation by a cardiologist with expertise in congenital heart disease. 1

Annual Monitoring Requirements

• Blood pressure measurement 1, 3
• Weight and BMI 1
• Lipid profile 1
• Fasting plasma glucose and HbA1c 1
• Smoking status assessment 1

Cardiovascular Imaging

• Baseline cardiovascular imaging is mandatory to evaluate for bicuspid aortic valve, coarctation of the aorta, and ascending aorta enlargement 3
• Low-risk women: cardiology evaluation and transthoracic echocardiography every 5-10 years 3
• Moderate-risk women: imaging every 2-5 years 3
• High-risk women: annual imaging 3
• CMR or CCT if ascending aorta not adequately visualized by TTE 3

Aortic Surveillance

• Prophylactic aortic root/ascending aorta replacement should be considered when aortic size index >23 mm/m² or aortic height index >23 mm/m 3
• Additional surgical risk factors: bicuspid aortic valve, coarctation, uncontrolled hypertension, rapid aortic growth, planned pregnancy 3
• Beta-blockers and/or ARBs may be considered to inhibit aortic growth 3

Lifestyle Modifications

• Smoking cessation 1
• Regular weight-bearing exercise 1
• Healthy weight maintenance 1
• Hypertension should be treated aggressively according to general guidelines 3

Bone Health Management

Initial Assessment

• Bone mineral density measurement should be performed at diagnosis or at this age if not previously done, especially with additional risk factors 1
• If BMD is normal and adequate estrogen replacement is provided, repeat DEXA scanning has low value 1

Ongoing Monitoring

• If osteoporosis is diagnosed, repeat BMD measurement within 5 years after initiating treatment 1
• Decreased BMD should prompt review of estrogen replacement adequacy and other potential factors 1
• Specialist osteoporosis referral may be appropriate for complex cases 1

Fertility and Reproductive Counseling

Fertility Status

• Most women with Turner syndrome have ovarian dysgenesis and hypergonadotropic hypogonadism resulting in infertility 4, 5
• Spontaneous puberty occurs in only 5-10% of women with Turner syndrome 6
• Spontaneous pregnancy occurs in only 2-5% 6

Fertility Options

• Oocyte donation is the mainstream option with 46% of embryo transfers resulting in pregnancy 6
• Optimal outcomes require prolonged adequate estrogen and progestogen treatment before intervention 5
• Oocyte cryopreservation of own oocytes is an option in select cases with residual ovarian function 5
• Ovarian tissue cryopreservation is a promising emerging technique 5

Pregnancy Considerations

• Thorough cardiovascular evaluation is mandatory before attempting pregnancy 3
• Pregnancy carries substantially higher risk of aortic dissection, especially with pre-existing cardiovascular abnormalities 3
• Turner syndrome pregnancies are high-risk and require increased vigilance 6, 5
• Transfer only one embryo at a time to avoid twin pregnancy complications 6

Contraception

• Sexually active women with Turner syndrome need contraception 6
• Contraceptive pills can serve dual purpose as HRT 6

Psychosexual and Psychological Support

Sexual Health

• Routinely inquire about sexual wellbeing and sexual function at each visit 1
• Adequate estrogen replacement is the starting point for normalizing sexual function 1
• Local estrogen may be required to treat dyspareunia 1
• Testosterone supplementation counseling should be provided, acknowledging unknown long-term efficacy and safety 1

Psychological Wellbeing

• Turner syndrome diagnosis has significant negative impact on psychological wellbeing and quality of life 1
• Psychological and lifestyle interventions should be accessible 1
• Infertility is rated as a distressing concern and detractor from quality of life 5

Additional Health Surveillance

Metabolic Monitoring

• Screen for type 1 and type 2 diabetes mellitus 4
• Monitor for autoimmune disorders 4

Renal Assessment

• Evaluate for congenital renal malformations if not previously done 4

Common Pitfalls and Caveats

• Never use oral ethinyl estradiol as it leads to suboptimal uterine development and inferior bone outcomes compared to transdermal 17β-estradiol 1, 2
• Do not delay or withhold HRT as this is detrimental to bone and uterine health 7
• Use Turner-specific normative data or indexed measurements when assessing aortic dimensions 3
• The risk of aortic dissection is significantly higher than in the general population, requiring lifelong vigilance 3
• Annual clinical review is essential to ensure compliance with HRT, as adherence is critical for long-term outcomes 2
• Physical activity should be encouraged but modified based on cardiovascular status and aortic dimensions 3