If you notice symptoms of Klinefelter syndrome in yourself or your son, talk to your health care professional. You may be referred to a specialist for testing and diagnosis.
Here's some information to help you get ready for your appointment. If possible, bring a family member or friend with you. A trusted companion can help you remember information and provide emotional support.
What you can do
Before the appointment, make a list of:
- Signs or symptoms that concern you
- Medications, including over-the-counter medications, vitamins, herbs or other supplements, and the doses
- Ages 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
- Questions to ask the doctor to make the most of your appointment
Questions to ask might include:
- Do the symptoms indicate Klinefelter syndrome?
- What tests are needed to confirm the diagnosis?
- What are other possible causes for the symptoms?
- Is a specialist needed?
- What treatments are necessary?
- What are the side effects and expected results of treatment?
- What kind of special therapies do you recommend?
- What kind of support is available?
- How can I learn more about this disorder?
Don't hesitate to ask other questions during the appointment.
What to expect from your doctor
Your doctor may ask questions such as:
- When did you first notice that something may be wrong?
- What signs and symptoms have you noticed?
- When did you (or your child) meet growth and developmental milestones?
- Do you have problems with fertility?
- Have you had any previous tests or treatments?
Oct. 04, 2016
- AskMayoExpert. Klinefelter syndrome. Minn.: Mayo Foundation for Medical Education and Research; 2015.
- National Library of Medicine. Klinefelter syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/klinefelter-syndrome. Accessed May 17, 2016.
- Learning about Klinefelter syndrome. National Human Genome Research Institute. https://www.genome.gov/19519068/learning-about-klinefelter-syndrome/. Accessed May 17, 2016.
- Klinefelter syndrome. NHS Choices. http://www.nhs.uk/Conditions/klinefelters-syndrome/Pages/Introduction.aspx. Accessed May 17, 2016.
- Klinefelter syndrome. National Organization for Rare Disorders. http://rarediseases.org/rare-diseases/klinefelter-syndrome/. Accessed May 17, 2016.
- Klinefelter syndrome. Merck Manual Consumer Version. http://www.merckmanuals.com/home/children's-health-issues/chromosomal-and-genetic-abnormalities/klinefelter-syndrome. Accessed May 17, 2016.
- Klinefelter syndrome (KS). Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/klinefelter/Pages/default.aspx. Accessed May 17, 2016.
- Ferri FF. Klinefelter's syndrome. In: Ferri's Clinical Advisor 2017. Philadephia, Pa.: Elsevier; 2017. https://www.clinicalkey.com. Accessed May 18, 2016.