How you learn if your daughter has Turner syndrome will depend on the degree to which it has affected her development.
- Before birth. Certain features may be detected on prenatal ultrasound screening and confirmed with prenatal diagnostic testing.
- At birth. If certain conditions — such as a webbed neck or other distinct physical features — are readily apparent at birth, diagnostic tests will likely begin before your child leaves the hospital.
- During childhood or teen years. Your family doctor or pediatrician may suspect the disorder later in your daughter's childhood if she isn't growing at an expected rate or isn't beginning puberty at an expected time. Diagnostic testing can confirm the diagnosis.
Well-baby visits and annual checkups
It's important to take your daughter to all regularly scheduled well-baby visits and annual appointments throughout childhood. These visits are an opportunity for your doctor to take height measurements, note delays in expected growth and identify other problems in physical development.
Your daughter's doctor may ask questions such as:
- What concerns do you have about your daughter's growth or development?
- How well does she eat?
- Has your daughter begun to show signs of puberty?
- Is she experiencing any learning difficulties at school?
- How does she do in peer-to-peer interactions or social situations?
Talking to your doctor about Turner syndrome
If your family doctor or pediatrician believes that your daughter shows signs or symptoms of Turner syndrome and suggests diagnostic tests, you may want to ask these questions:
Aug. 23, 2014
- What diagnostic tests will we need?
- When will we know the results of the tests?
- What specialists will we need to see?
- How will you screen for disorders or complications that are commonly associated with Turner syndrome?
- How can I help monitor my daughter's health and development?
- Can you suggest educational materials and local support services regarding Turner syndrome?
- Turner syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/turner-syndrome. Accessed July 22, 2014.
- Learning about Turner syndrome. National Human Genome Research Institute. http://www.genome.gov/19519119. Accessed July 22, 2014.
- Turner syndrome. National Organization for Rare Disorders (NORD). https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/112/viewFullReport. Accessed July 22, 2014.
- Turner syndrome. Eunice Kennedy Shriver National Institute of Child Health and Human Development. http://turners.nichd.nih.gov/index.html. Accessed July 22, 2014.
- Saenger P. Clinical manifestations and diagnosis of Turner syndrome (gonadal dysgenesis). http://www.uptodate.com/home. Accessed July 22, 2014.
- Milbrandt T, et al. Turner syndrome. Pediatrics in Review. 2013;34:420.
- Saenger P. Management of Turner syndrome (gonadal dysgenesis). http://www.uptodate.com/home. Accessed July 22, 2014.
- Turner Syndrome Society of the United States. http://www.turnersyndrome.org/. Accessed July 26, 2014.
- Wick MJ (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 1, 2014.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. July 27, 2014.
- Freriks K, et al. Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome. European Journal of Endocrinology. 2013;168:91.