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Preparing for your appointment
By Mayo Clinic staffA 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 any 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 during your appointment.
- Bock R. Understanding Klinefelter syndrome: A guide for XXY males and their families. National Institute of Child Health & Human Development. http://www.nichd.nih.gov/publications/pubs/klinefelter.cfm. Accessed Aug. 30, 2010.
- Zeger M, et al. Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome. Journal of Pediatrics. 2008;152:716.
- Klinefelter syndrome. Genetics Home Reference. http://www.ghr.nlm.nih.gov/condition/klinefelter-syndrome. Accessed Aug. 30, 2010.
- Klinefelter syndrome. National Institute of Child Health & Human Development. http://www.nichd.nih.gov/health/topics/klinefelter_syndrome.cfm. Accessed Aug. 30, 2010.
- Ramasamy R, et al. Successful fertility treatment for Klinefelter's syndrome. Journal of Urology. 2009;182:1108.
- Radicioni AF, et al. Strategies and advantages of early diagnosis in Klinefelter's syndrome. Molecular Human Reproduction. 2010;16:434.
- Bruining H, et al. Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome. Pediatrics. 2009;123:e865.
- Sex chromosome anomalies. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec19/ch294/ch294g.html. Accessed Sept. 23, 2010.
- Wattendorf DJ, et al. Klinefelter syndrome. American Family Physician. 2005;72:2259.
- Klinefelter syndrome. The Hormone Foundation. http://www.hormone.org/upload/Klinefelter-Bilingual-WEB.pdf. Accessed Aug. 30, 2010.
- Learning about Klinefelter syndrome. National Human Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=19519068. Accessed Aug. 30, 2010.
- Snyder PJ. Causes of primary hypogonadism in males. http://www.uptodate.com/home/index.html. Accessed Aug. 30, 2010.
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