Turner Syndrome

What are the features of Turner syndrome?

The features of TS can vary widely and it is important to note that not all the features described will be seen in your child. Some girls and women with TS or mosaic TS have minimal or no symptoms.

• Growth: Short stature (occurs in 95-100%)
• Physical features: Lymphoedema (puffy hands and feet), broad chest and widely spaced nipples, droopy eyelids, low hairline, low-set ears, webbing of the skin of the neck, short fourth toe and short fingers, and arms that turn out slightly at the elbows
• Cardiovascular (heart and blood vessels): Congenital heart disease (occurs in 23-50%) with heart defects such as aortic coarctation and bicuspid aortic valve, and hypertension (multifactorial)
• Endocrine: Pubertal failure and infertility due to non-functioning ovaries, autoimmune hypothyroidism and osteoporosis
• Kidney: Structural abnormalities of the kidney (e.g., horseshoe kidney) (occurs in 24-42%)
• Ears: Chronic or recurrent middle ear infections, conductive and/or sensorineural hearing loss
  
• Skin: Pigmented nevi (small brown moles on the skin)
  
• Learning: The majority of individuals with TS are of average intelligence. Some may have impairments in visuospatial abilities, emotional immaturity, or specific learning disorders. Psychological and behavioural problems such as attention-deficit/hyperactivity disorder (ADHD) may also be present.
• Susceptibility to certain medical conditions: Includes diabetes mellitus type 1, coeliac disease and inflammatory bowel disease