How you learn if your daughter has Turner syndrome will depend on the degree to which it has affected her development. 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.
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.
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.
Questions you may be asked by your daughter's doctor might include the following:
- 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 exhibits signs or symptoms of Turner syndrome and suggests diagnostic tests for the disorder, you may want to ask the following questions:
Aug. 20, 2011
- What diagnostic tests will we need?
- When will we know the results of the tests?
- What specialists will we need to see?
- How will we screen for disorders or complications that are commonly associated with Turner syndrome?
- How will you help us monitor my daughter's health and development?
- Can you suggest educational materials and local support services regarding Turner syndrome?
- Learning about Turner syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/turner-syndrome. Accessed June 28, 2011.
- Davenport ML. Approach to the patient with Turner syndrome. Journal of Clinical Endocrinology and Metabolism. 2010;95:1487.
- Saenger P. Clinical manifestations and diagnosis of Turner syndrome (gonadal dysgenesis). http://www.uptodate.com/home/index.html. Accessed June 28, 2011.
- Bondy CA. Turner syndrome 2008. Hormone Research. 2009;71(suppl):52.
- Clinical features of Turner syndrome. National Institute of Child Health and Human Development. http://turners.nichd.nih.gov/clinical.html. Accessed June 28, 2011.
- Loscalzo ML. Turner syndrome. Pediatrics in Review. 2008;29:219.
- Genetic features of Turner syndrome. National Institute of Child Health and Human Development. http://turners.nichd.nih.gov/genetic.html. Accessed June 28, 2011.
- Ross JL, et al. Growth hormone plus childhood low-dose estrogen in Turner's syndrome. New England Journal of Medicine. 2011;364:1230.
- Saenger P. Management of Turner syndrome (gonadal dysgenesis). http://www.uptodate.com/home/index.html. Accessed June 28, 2011.