How To Diagnose and Treat Turner Syndrome?

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Diagnosis A lab test that uses a blood sample will usually be done to analyze the child's chromosomes. A cheek scraping (buccal smear) or skin sample may be requested too. Certain features on an ultrasound image provided during fetal development may raise suspicion that your baby has Turner syndrome or another genetic condition affecting development in the womb. Prenatal screening tests that evaluate the baby's DNA in the mother's blood such as prenatal cell-free DNA screening or noninvasive prenatal screening can also be used to diagnose turner syndrome. A karyotype during pregnancy or after delivery is still recommended to confirm the diagnosis. Chorionic villus sampling, which involves taking a small piece of tissue from the developing placenta with the same genetic material as the baby, and amniocentesis, in which a sample of the amniotic fluid is taken from the uterus, are procedures can be performed to test prenatally for Turner syndrome. Treatment The primary treatments for nearly all girls and women with Turner syndrome include hormone therapies:
  • Growth hormone. Use it early can improve height and bone growth during early childhood until the early teen years. Oxandrolone may be used along with the growth hormone.
  • Estrogen therapy. It is used around age 11 or 12 years to promote breast development and improve the size (volume) of the uterus. It can also be used with the growth hormone to help with bone mineralization.
Only a small percentage of women with Turner syndrome can become pregnant without fertility treatment and they are still likely to experience failure of the ovaries and subsequent infertility very early in adulthood. The donation of an egg or embryo to get pregnant requires a specially designed hormone therapy to prepare the uterus for pregnancy. There are reproductive endocrinologists out there to help you and discuss options with you.