Turner syndrome – 45,X0

Turner syndrome is associated with the total or partial absence (complete or partial monosomy) of chromosome X. Even though patients with Turner syndrome only have one normal X chromosome, all of them are women.

The prevalence is between 1/2000 to 1/5000 live female births. Around 1% of all conceptions present with monosomy X. Of these, the majority end in spontaneous abortion, generally during the first week of pregnancy. There is a reduced life expectancy.

Most frequent clinical findings in patients with Turner syndrome – 45,X0)

  • Short stature
  • Birth with a low hairline at the back of the neck
  • Thyroid hormone deficiency (hypothyroidism)
  • High arterial pressure (hypertension)
  • Renal problems
  • Congenital heart defects
  • Breast underdevelopment
  • Skeletal anomalies
  • Increased weight

The majority of women with Turner syndrome have normal intelligence.

Additional information

Tsint.org – Turner Syndrome International

Orpha.net – The portal for rare diseases and orphan drugs