What is Turner Syndrome?

Turner Syndrome (TS) is a genetic condition in females caused by complete or partial loss of one X chromosome (45,X or mosaic forms). It affects approximately 1 in 2,000-2,500 female births.

Key Features in Adults:

• Short Stature: Average adult height ~4'7" (143 cm) without growth hormone treatment
• Ovarian Insufficiency: 95% of women with TS have non-functioning ovaries (gonadal dysgenesis)
• Infertility: Most women cannot conceive naturally; pregnancy requires egg donation
• Absence of Spontaneous Puberty: Requires hormone replacement

Long-Term Health Concerns in Adults:

Cardiovascular (Most Important):

• Congenital Heart Disease: Bicuspid aortic valve (30%), coarctation of aorta, hypoplastic left heart
• Aortic Disease: Increased risk of aortic dissection and rupture—LIFE-THREATENING
• Hypertension: Common even without coarctation
• Monitoring: Regular echocardiograms or cardiac MRI; BP control crucial

Metabolic:

• Type 2 Diabetes (increased risk)
• Dyslipidemia (high cholesterol/triglycerides)
• Nonalcoholic fatty liver disease (NAFLD)
• Obesity

Bone Health:

• Increased osteoporosis/fracture risk
• Requires adequate estrogen replacement, calcium, Vitamin D
• Regular DEXA scans

Autoimmune:

• Hypothyroidism (Hashimoto's thyroiditis)—30%
• Celiac disease—5-10%
• Inflammatory bowel disease

Hearing and Vision:

• Progressive sensorineural hearing loss
• Recurrent otitis media
• Strabismus, ptosis

Renal:

• Horseshoe kidney, structural anomalies—30%
• Increased UTI risk

Hormone Replacement Therapy (HRT):

• Essential for bone health, cardiovascular health, sexual function, and quality of life
• Start at puberty age and continue until natural menopause age (~50)
• Estrogen + progestin (to protect the uterus)
• Individualized dosing; can use pills, patches, or other formulations

Pregnancy and Turner Syndrome:

• High-Risk: Pregnancy (even with egg donation) carries significant cardiovascular risks, especially aortic dissection
• Pre-Pregnancy Evaluation: Thorough cardiac assessment (echo, MRI) mandatory
• Contraindications to Pregnancy: Aortic root dilation >4 cm, significant coarctation, poor cardiac function
• Requires high-risk obstetric and cardiology co-management if approved

Recommended Adult Monitoring:

• Annual: BP, BMI, TSH, lipids, fasting glucose/HbA1c, liver enzymes, hearing test
• Every 3-5 years: Echocardiogram or cardiac MRI (more frequently if abnormalities)
• Every 2-3 years: DEXA scan
• As needed: Celiac screening, ophthalmology, audiology

Living Well with Turner Syndrome:

With appropriate medical care and monitoring, women with Turner Syndrome can lead full, healthy, and productive lives. Multidisciplinary care and patient empowerment are key.