Turner Syndrome (Children)

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

Typically, girls have 23 pairs of chromosomes, including a pair of X chromosomes. However, girls with Turner Syndrome usually have only 45 chromosomes, with a missing or partially missing X chromosome. This condition affects 1 in 2,500 live female births.1

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

Source: 1PubMed

Turner Syndrome is a genetic disorder characterised by the deletion of all or part of one X chromosome in females.

Girls with Turner Syndrome generally have shorter stature than their peers. They may experience challenges with puberty due to ovarian failure. The severity and range of symptoms can vary significantly. Some girls may exhibit only a few features, while others might have more.

The following are challenges that may be faced at different life stages:

Problems During Infancy

• Puffy hands and feet
  
• Difficulties with sucking and swallowing

Problems During Childhood

• Hearing and Vision: Increased risk of middle ear infections and potential hearing impairment. Regular eye exams are important for detecting short-sightedness, squints and ptosis (drooping of the eyelid).
• Growth: Short stature is a hallmark of Turner Syndrome. Growth hormone treatment can help increase final height.
• Learning and Development: While intelligence is typically within the normal range, some may have difficulties with spatial skills, affecting abilities in mathematics and geometry.

Problems During Adolescence

• Sexual Development: Ovarian function may be impaired, affecting the development of secondary sexual characteristics, such as the growth of pubic hair and breast development. Some girls may start but not complete puberty naturally, requiring hormone replacement therapy.
• Infertility: Non-functioning ovaries often lead to infertility in women with Turner Syndrome.

Problems In Adulthood

• Hormone replacement therapy: Necessary for those with non-functioning ovaries
• Infertility
  
• Risk of developing hypertension
• Heart problem: Abnormalities in the aortic valve or widening of the base of the aorta with age
• Osteoporosis (bone loss)

While initiall diagnosis of Turner Syndrome is often based on physical signs, a blood test known as chromosomal karyotyping is essential for confirmation.

Treatment options include:

• Growth hormone therapy:  For girls with short stature, growth hormone therapy can aid in better growth and increase final height.
• Hormone replacement therapy: Typically initiated around puberty to facilitate the onset and progression of pubertal changes. Oestrogen replacement is also vital for maintaining bone strength and preventing osteoporosis.
  

Each child with Turner Syndrome requires a personalised assessment and management plan. It is important to consult with a doctor experienced in treating Turner Syndrome to determine the best treatment approach for your child.

​Turner Syndrome Support Group

Dr Cindy Ho, a paediatrician specialising in endocrinology, heads the National University Hospital Turner Syndrome Support Group.

We organise activities for girls to get together, have fun, make friends and receive support from each other as well as the healthcare team.

Please click here for more information on our support group.

Useful Link

• http://www.turnersyndrome.org