A small percentage of males with Klinefelter syndrome are diagnosed before birth. This might happen if a pregnant woman has a procedure to examine fetal cells drawn from the amniotic fluid (amniocentesis) or placenta (chorionic villus sampling). Most women who have these procedures are older than age 35 or have a family history of genetic conditions.
If you notice symptoms of Klinefelter syndrome in yourself or your son, see a doctor. Your doctor will do a thorough physical examination and ask detailed questions about symptoms and your (or your son's) health. Be prepared to discuss when you, or your son, reached certain puberty milestones, such as the development of pubic and armpit hair, growth of the penis, and increased testicle size.
Take a few steps to make sure you make the best of the doctor visit:
- Write down detailed notes about any symptoms.
- Make a list of all medications, as well as any vitamins or supplements that you (or your son) are taking.
Preparing a list of questions can help make the most of your appointment. You might want to ask the following questions:
- What tests are needed to confirm my (or my son's) diagnosis or see if the symptoms are caused by something else?
- What treatments are necessary?
- What are the side effects and expected results of treatment?
- Are there brochures or other printed material that I can take with me? What websites do you recommend?
In addition to the questions that you've prepared, don't hesitate to ask questions as they occur to you during the appointment.
June 25, 2013
- Kliegman RM, et al. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/208746819-6/0/1608/0.html. Accessed April 29, 2013.
- Melmed S, et al. Williams Textbook of Endocrinology. 12th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/191205553-3/0/1555/0.html#. Accessed April 29, 2013.
- Wikstrom AM, et al. Klinefelter syndrome. Best Practice & Research Clinical Endocrinology & Metabolism. 2011;25:239.
- Sokol RZ. It's not all about the testes: Medical issues in Klinefelter patients. Fertility and Sterility. 2012;98:261.
- Klinefelter syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/klinefelter-syndrome. Accessed April 29, 2013.
- Klinefelter syndrome. National Institute of Child Health and Development. http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/Default.aspx. Accessed April 29, 2013.
- Learning about Klinefelter syndrome. National Human Genome Research Institute. http://www.genome.gov/19519068. Accessed April 29, 2013.
- Nippoldt TB (expert opinion). Mayo Clinic, Rochester, Minn. May 2, 2013.