Characteristics/Symptoms

The most common feature of TS is short stature

• In TS, growth failure begins at birth. Without extra growth hormone, girls usually won’t have a pubertal growth spurt. They may grow at a slower rate until their 20s.
  • The average adult height of a woman with TS (not treated with growth hormone) is 4 feet, 8 inches (142 cm). However, a few women will reach 5 feet.
  • Females treated with growth hormone may reach a low but normal adult height.

Although the ovaries develop normally at first, they undergo changes similar to menopause before birth causing the ovaries to be non-functioning at birth.  That is they do not produce eggs or estrogen. This means that there is insufficient estrogen to cause the changes associated with puberty.

• Lack of sexual development during adolescence is another hallmark feature of TS, such as:
  • Breast development
  • Feminine body contours
  • Menstruation
• Pubertal delay may exacerbate the negative psychosocial effects of later ovarian development
  • Excessive shyness
  • Social anxiety
  • Delayed sexual development
• Sexual development is affected because the ovaries often stop working early in life.
• Ten to 15 percent of girls have some signs of breast development in their early teens and some will menstruate.
  • In these girls, sexual development and menstruation usually stop sooner than usual.
• Some pubic and under arm hair grows in 10-12-year-old girls without puberty because their adrenal glands are producing normal amounts of other hormones, leading to an imbalance.
• When a girl isn’t developing with her peers she may become self-conscious about her appearance.  This delayed start of puberty may affect a girl’s self-image, her friendships with peers, and healthy sexual development. It may make her feel different from her peers
• The ovaries can no longer produce eggs so most women with TS do not ovulate and are infertile.
• The uterus and vagina are normally formed and therefore it is possible to achieve pregnancy with a donated egg and hormonal support.

• Most girls are of normal to slightly below normal intelligence.
• Girls may have difficulty with spatial processing (imagining objects in relation to another), non-verbal memory, and attention. Can lead to problems with:
  • Math
  • Sense of direction
  • Manual dexterity
  • Social skills

About a third of girls with TS will have features related to the poor development of the lymphatic system before birth. Lymph drains from the tissues into the blood. This system carries fluid that has drained from the tissues into the blood

If not working properly, fluid collects in the tissues. This is called lymphedema.

• In girls with TS, this fluid often collects around the neck before birth. This may affect the appearance of the neck and ears.
  • After birth, fluid often remains in the hands and feet.
    • May lead to small narrow fingernails and toenails that turn up
    • Hands and feet may also be “puffy”
  • It may lead to a thick, short neck, “webbed” appearance, and/or low hairline.
  • These features may be barely noticeable
    • However, may cause self-consciousness or embarrassment for some girls.
    • Some girls use make-up tricks or clothing to disguise these features.
  • Some of the features can be improved with treatment.
    • Lymphedema may improve with manual compressive therapy
      • Massage
      • Exercises
      • Support garments
      • Skin care
    • A small number of girls have plastic surgery to improve the appearance of the neck and ears
• Girls with TS may have crowded teeth because of their small and receding lower jaw and narrow, high-arched palate.
  • Their teeth may have shallow roots.
  • Good dental care is important.
• Short ring finger (the metacarpal is short, not the finger itself)
• Pectus excavatum (caved or sunken in chest wall)
• Eyes
  • Slight droop to eyelids
  • Strabismus (lazy eye)
  • Red-green color blindness
• Broad chest
  • Not as obvious after beast development
• Arms may not fully extend at the elbows
• Scoliosis (curvature of the spine)
• Flat feet

• 1/3 of girls with TS have a heart abnormality
• Heart defects include:
  • Coarctation (narrowing) of the aorta
  • Bicuspid aorta valve
• Higher risk for hypertension/high blood pressure
• Should be aware of symptoms of dissection of aorta (rare complication)
  • Sudden, sharp, stabbing, tearing, ripping chest pain
  • Intense anxiety
  • Rapid pulse
  • Profuse sweating nausea and vomiting
  • Dizziness, fainting
  • Shortness of breath

• 25-40% have kidney abnormalities
• Kidneys may be unusual shaped or in a unusual position
• Kidney abnormalities may not cause medical problems
  • May result in increased urinary tract abnormalities and increased blood pressure.

• Hypothyroidism (low level of thyroid hormone) occurs frequently in individuals with TS.

• Ear infections are extremely common in TS girls particularly in infancy and early childhood.
• The majority (~60%) of TS women will also develop early sensorineural (nerve) hearing loss
  • Woman may require hearing aids earlier than the general population.

• Girls with TS seem to have a higher than normal risk of other autoimmune disorders.
  • Celiac disease (gluten sensitivity)
  •  Inflammatory bowel disease
  •  Juvenile rheumatoid arthritis
• Girls and women with TS are at increased risk for a cluster of conditions sometimes called the “metabolic syndrome.”
  • Clinical signs include:
    • High blood pressure
    • Abnormal blood levels of cholesterol
    • Non-insulin-dependent diabetes mellitus
    • Obesity
    • Increased insulin secretion
    • Increased uric acid secretion (related to gout).
    • Many of these conditions can lead to cardiovascular (heart and blood vessel) disease,
    • Careful monitoring and prompt treatment of these problems is needed.

• A common problem in TS, especially as teens age.
• Extra weight on a shorter person is more noticeable and can lead to a poor self-image.
• Obesity is associated with high blood pressure and non-insulin requiring diabetes mellitus.
  • Girls with TS are at increased risk for these problems to begin with and it is important to maintain a healthy weight.
• Diet and exercise are the keys to weight control in TS

• Girls and women with TS are more likely to form exaggerated scars
• Even simple wounds like ear piercing and mole removal can heal with thick scar tissue, known as keloid formation