Turner Syndrome (Children)

Turner Syndrome is a chromosomal condition first described by an American, Dr Henry Turner in 1938. It is characterised by the absence or poor function of the ovaries and short stature (considerably below average height for age and sex).

Girls usually have 23 pairs of chromosomes (46 chromosomes in total) including a pair of sex chromosomes, XX. Girls with Turner Syndrome only have 45 chromosomes with one X chromosome or they may be missing part of an X chromosome. Turner Syndrome affects 1 in 2,500 live female births.¹

Girls with Turner Syndrome are at an increased risk of impaired glucose tolerance and autoimmune conditions such as Coeliac Disease, Autoimmune Thyroid Disease or Inflammatory Bowel Disease.

Turner Syndrome is a genetic disorder with a deletion of the whole or part of one X chromosome found in females.

Source: ¹PubMed

Girls with Turner Syndrome are generally shorter than average girls of their age. They may have difficulty going into or going through puberty due to ovarian failure. Every girl with Turner Syndrome is unique and may have different features. Some girls only have a few features while others may have more.

These are the different problems in each stage of life that a girl with Turner Syndrome may face from infancy through adulthood:

• Puffy hands and feet
• Difficulties with sucking and swallowing

Hearing and Vision

• Middle ear infections are more common and hearing can be affected.
• Eyes need to be tested for short-sightedness, squints and ptosis (drooping of the eyelid)

Growth

• Short stature is the most common feature in Turner Syndrome
• Final height can be increased by the use of growth hormone

Learning and Development

• Intelligence fall across the normal range
• Some may have difficulties with spatial skills, resulting in difficulties with mathematics and geometry

Sexual development:

• The ovaries may not function properly and therefore some girls may not develop secondary sexual characteristics such as growth of pubic hair and hair under the armpit, and breast development.
• Some girls can start puberty on their own but puberty may stop before the girls are fully mature. Some girls may not experience any pubertal changes and will need hormone replacement therapy.
• Infertility is a common problem in women with Turner Syndrome due to non-functioning ovaries.

• Hormone replacement therapy is needed for non-functioning ovaries
• Infertility
• Risk of developing hypertension
• Heart problem - the aortic valve can be abnormal or the base of aorta can widen with increasing age
• Osteoporosis (bone loss)

Although the diagnosis is made initially with the physical signs, it should be confirmed with a blood test called chromosomal karyotyping.

For growing girls with short stature, growth hormone therapy may help them grow better and increase their final height.

Hormone replacement therapy is usually started at the time of puberty to help them initiate puberty or go through pubertal changes. Female hormone replacement with oestrogen is also needed to maintain bone strength and prevent osteoporosis.

Every individual child requires her own personal assessment and advice about the management and treatment of the condition. You should speak to a doctor familiar with the care of Turner Syndrome regarding the treatment your child's needs.