Turner syndrome

After initial diagnosis, management:

  • echo for cardiac defects: coarctation of the aorta, bicuspid aortic valve, mitral valve prolapse, and hypoplastic heart
  • visual/hearing test
  • renal US: horseshoe kidney
  • TSH: hypothyroidism
  • If Y chromosome mosaicism: increased association of malignancy. Streak gonads need to be removed
  • increased diabetes when older
  • estrogen replacement around 14. Do not give before as can fuse epiphysis
  • growth hormone at puberty to reach final height
  • Vitamin D therapy, oral, continuous
  • Calcium, oral, continuous
  • Dietary consult (Re: Turner syndrome with growth failure)
  • Psychiatry consult (Re: Estimate IQ)