Klinefelter Syndrome

(47 XXY Syndrome; KS)

by Cynthia M. Johnson, MA

Definition

Causes

Definition

Klinefelter syndrome (KS) happens in men who have more than one X chromosome (XXY).

Klinefelter Syndrome

Causes

Males have a single X chromosome from their mother and a single Y one from their father. Males with KS get at least one extra X from either parent.

Risk Factors

There are no known risk factors for KS.

Symptoms

Symptoms may not be found until puberty or later.

Children may have problems with:

Speech
Learning
Behavior

Teens may have:

Delayed puberty
Enlarged breasts

Adults may have:

Small, firm testes
Small penis
A poor sex drive or sexual problems
Lack of facial and body hair
Breast pain
Hot flashes, sweating

Diagnosis

The doctor will ask about your symptoms and health history. A physical exam will be done.

KS is diagnosed with a genetic test. Blood tests may also be done.

Treatment

There is no cure. The goal is to manage symptoms. Choices are:

Testosterone therapy to raise low levels of this hormone
Speech and language therapy
Special education services
Mental health counseling

Prevention

There are no known guidelines to prevent KS.

RESOURCES:

The Association for X and Y Chromosome Variations
http://www.genetic.org

National Institute of Child Health and Human Development
http://www.nichd.nih.gov

CANADIAN RESOURCES:

Canadian Psychiatric Association
http://www.cpa-apc.org

Canadian Psychological Association
http://www.cpa.ca

REFERENCES:

Groth KA, Skakkebæk A, et al. Clinical review: Klinefelter syndrome--a clinical update. J Clin Endocrinol Metab. 2013 Jan;98(1):20-30.

Klinefelter syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/klinefelter-syndrome. Accessed November 5, 2020.

Klinefelter syndrome (KS): Overview. National Institute of Child Health and Human Development website. Available at: http://www.nichd.nih.gov/health/topics/klinefelter/Pages/default.aspx. Accessed November 5, 2020.

Last reviewed September 2020 by EBSCO Medical Review Board Kari Kassir, MD Last Updated: 5/11/2021

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