Turner Syndrome (Children)

Girls and women with Turner syndrome can have a wide range of features, and not everyone will have all of them. The most common characteristics include: 

Growth and Development 

• Short stature (being shorter than average), which usually becomes noticeable around the age of 5 
  
• Delayed or absent puberty without treatment 
  
• Difficulty getting pregnant naturally, though some women with Turner syndrome can have children 
  

Physical Features 

• Extra folds of skin on the neck (webbed neck) 
  
• Low hairline at the back of the neck 
  
• Swelling of the hands and feet, especially in newborns 
  
• Broad chest with widely spaced nipples 
  

Medical Conditions 

• Heart problems, including narrowing of the aorta or abnormal heart valves (present in about one-third to one-half of individuals) 
  
• Kidney differences 
  
• Hearing problems 
  
• Thyroid conditions 
  
• Higher risk of diabetes and high blood pressure 
  
• Bone health concerns, including osteoporosis 

Most girls and women with Turner syndrome have normal intelligence. Some may experience challenges with math, spatial skills, or social situations, but these vary greatly from person to person. 

If learning challenges are present, educational support and accommodations can be very helpful. Neuropsychological testing can identify specific areas where support may be beneficial. 

With proper medical care, girls and women with Turner syndrome can lead healthy, fulfilling lives. Treatment is tailored to each individual's needs and may include: 

Growth Hormone Therapy 

Starting in early childhood, growth hormone injections can help increase height. This treatment can add about 3 to 4 inches to final adult height when started early. 

Hormone Replacement Therapy 

Most girls with Turner syndrome need estrogen therapy, usually starting around the age of 11 or 12 (the typical age for puberty). This helps to: 

• Develop breasts and other female characteristics 
  
• Start menstrual periods 
  
• Protect bone health 
  
• Support overall health and well-being

Hormone therapy usually continues throughout adulthood until around age 50. 

Regular Medical Monitoring 

As Turner syndrome can affect multiple body systems, regular check-ups are important. These may include: 

• Heart evaluations, including imaging tests 
  
• Blood pressure monitoring 
  
• Hearing and vision tests 
  
• Thyroid function tests 
  
• Bone density scans 
  
• Kidney function tests 
  
• Screening for diabetes 

With advances in medical care and multi-disciplinary approach, girls and women with Turner syndrome are living longer, healthier lives than ever before. Many women with Turner syndrome: 

• Complete their education and pursue successful careers 
  
• Develop meaningful relationships 
  
• Participate fully in sports and activities 
  
• Lead independent, fulfilling lives 
  

Fertility Options 

While most women with Turner syndrome cannot get pregnant naturally, some options may be available, including egg donation and in vitro fertilization. It's important to discuss these options with a fertility specialist and cardiologist, as pregnancy can carry additional risks for women with Turner syndrome. 

Getting Support 

Managing Turner syndrome works best with a multi-disciplinary team which may include: 

• Endocrinologists (hormone specialists) 
  
• Cardiologists (heart specialists) 
  
• Geneticists 
  
• Reproductive specialists 
  
• Psychologists or counsellors 
  
• Primary care physicians 
  

Support groups and organisations dedicated to Turner syndrome can also provide valuable resources, information, and connections with others who understand the condition.

If you notice any of the following in your daughter, talk to your healthcare provider: 

• Slower growth than expected 
  
• No signs of puberty by age 13 
  
• Swelling of hands or feet 
  
• Heart-related symptoms 
  
• Hearing or vision problems 
  

Early diagnosis and treatment can make a significant difference in outcomes and quality of life.