What is Turner Syndrome?

Turner Syndrome (TS) is a genetic condition that affects females. It occurs when one of the two X chromosomes is completely or partially missing. Normally, females have two X chromosomes (46,XX), but in Turner Syndrome, the karyotype is usually 45,X or includes other structural abnormalities of the X chromosome.

  • Incidence: About 1 in every 2,000–2,500 live female births.
  • Cause: Not inherited — usually occurs as a random event during cell division in early development.

Key Characteristics

Some common physical features and characteristics include:

  • Short stature (often evident by age 5)
  • Webbed neck (extra folds of skin between neck and shoulders)
  • Low hairline at the back of the head
  • Broad chest with widely spaced nipples
  • Cubitus valgus (wide carrying angle of the arms)
  • Swelling of hands and feet at birth (lymphedema)

Symptoms and Health Concerns

Turner Syndrome can affect multiple organ systems:

Reproductive System

  • Underdeveloped ovaries → infertility in most patients
  • Delayed or absent puberty without hormone treatment
  • Low estrogen levels → increased risk of osteoporosis

Cardiovascular System

  • Congenital heart defects (e.g., bicuspid aortic valve, coarctation of the aorta)
  • Higher risk of high blood pressure and aortic aneurysm

Other Possible Issues

  • Hearing loss
  • Recurrent middle ear infections
  • Thyroid problems (e.g., hypothyroidism)
  • Learning difficulties in math and spatial reasoning (IQ usually normal)

Diagnosis

  • Prenatal: Can be detected via Non-Invasive Prenatal Testing (NIPT), amniocentesis, or chorionic villus sampling.
  • Postnatal: Confirmed through a karyotype test (chromosome analysis).

Prevention & Risk Reduction

Since Turner Syndrome is not inherited but rather a random chromosomal event, it cannot be fully prevented. However, modern reproductive technology can help avoid transferring affected embryos:

  • Preimplantation Genetic Testing for Aneuploidy (PGT-A) in IVF
    • Embryos are screened for chromosomal abnormalities before transfer.
    • Only embryos with a normal set of chromosomes (46,XX or 46,XY) are selected.
  • Prenatal screening for high-risk pregnancies
    • Early detection allows for medical planning and management.

Management

Although there is no cure for Turner Syndrome, early intervention improves quality of life:

  • Growth hormone therapy to increase height if started in childhood
  • Estrogen replacement therapy for puberty development and bone health
  • Cardiac monitoring throughout life
  • Fertility options: Egg donation + IVF for those who wish to conceive