Gynaecology

Turner Syndrome

  • The following tests should be obtained:

    Physical exam:

    • Blood pressure in all four limbs
    • Examination for congenital hip dislocation (< 4 years old)
    • Examination for scoliosis (teenager)

    Blood tests:

    • FSH, LH
    • Karyotype
    • TSH (yearly) and thyroid antibodies (every 5 years)
      • if antibodies positive, then TSH, free T4 and free T3 yearly
    • Fasting blood glucose (yearly)
    • BUN, Cr (yearly)
    • fasting lipids (yearly)
    • LFT (yearly)
    • Celiac screen (every 2-4 years)

    Imaging studies:

    • Renal ultrasound (at diagnosis)
    • Echocardiogram (at diagnosis and every 5 years)
    • MRI of heart and aorta (prior to IVF)
    • Bone age (prior to initiation of growth hormone)
    • Bone mineral density scan (prior to initiation of estrogen therapy)

    Other tests:

    • Auditory testing (at diagnosis and every 5 years thereafter)

    Referrals:

    • Endocrinology
      • for assessment of growth and initiation of growth hormone
    • Ophthalmology
      • for assessment of hyperopia and strabismus (> 1 year old)
    • Orthodonty
      • for assessment of malocclusion (> 7 years old)
    • Cardiology
      • for assessment of congenital heart defects

    Morgan, T, Turner Syndrome:  Diagnosis and Management. Amercian Family Physician, 2007;76(3):405-410.