TURNER SYNDROME

Description

  1. a condition that affects only girls and women, results when a sex chromosome (the X chromosome) is missing or partially missing.
  2. A girl with Turner syndrome only has one normal X sex chromosome

Symptoms

  1. swollen hands and feet (in infants)
  2. short stature
  3. a high palate
  4. low-set ears
  5. obesity
  6. droopy eyelids
  7. flat feet
  8. thick neck tissue
  9. swelling of the neck (cystic hygroma)
  10. being a small baby
  11. heart conditions
  12. kidney abnormalities

Causes

  1. Monosomy
  2. Mosaicism
  3. Y chromosome material
  4. errors during fetal development

Risk factors

  • loss or alteration of the X chromosome
  • a problem with the sperm or the egg

Diagnostic Tests

  • prenatal testing
  • karyotyping
  • blood tests to check sex hormone levels
  • an echocardiogram to examine for heart defects
  • a pelvic exam
  • a pelvic and kidney ultrasound
  • a chest MRI

Treatments

  • Growth hormone therapy
  • Estrogen replacement therapy
  • Pregnancy and fertility treatment
  • Transition to adult care
  • Psychological therapy,
  • somatropin