Klinefelter syndrome

Klinefelter syndrome: Introduction

A rare chromosomal genetic syndrome where the person has XXY chromosomes instead of XY or XX. The person is usually male because of the Y chromosome, but has lower levels of testosterone and may have some female-like features (because there are two X chromosomes). Sterility is a possible complication. The rarer subtype XXXY syndrome may lead to retardation.

Symptoms of Klinefelter syndrome

• No symptoms - some men are unaware they have an extra chromosome
• Enlarged male breasts - only severe in about 10% of cases
• Sparse facial hair
• Sparse body hair
• Small testes
• more symptoms...»

See full list of 30 symptoms of Klinefelter syndrome

Klinefelter syndrome: Complications

Review possible medical complications related to Klinefelter syndrome:

• Sterility
• Infertility (type of Sexual Conditions)
• Male infertility
• Hypogonadism
• Enlarged male breasts (gynecomastia) (see Breast swelling)
• more complications...»

Medical Textbooks Online about Klinefelter syndrome

Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

Diagnostic Tests for Klinefelter syndrome

• Genetic testing
• Karyotype blood test
• Antenatal testing
• Amniocentesis
• Chorionic villus sampling (CVS)
• more tests...»

See full list of 7 diagnostic tests for Klinefelter syndrome

Wrongly Diagnosed with Klinefelter syndrome?

• Misdiagnosis of Klinefelter syndrome
• Failure to diagnose Klinefelter syndrome
• Undiagnosed: Klinefelter syndrome

Causes of Klinefelter syndrome

Read more about causes of Klinefelter syndrome.

Treatments for Klinefelter syndrome

• Surgery - for enlarged male breasts.
• Testosterone
• Educational support - for language difficulties.
• more treatments...»

Read more about treatments for Klinefelter syndrome

News Archives for Klinefelter syndrome

Medical news articles related to Klinefelter syndrome include:

• Testosterone Injections Offer Hope for Male Contraceptive
• Male Contraception: Progress Slow but Steady
• Magnesium May Lower Risk for Some Strokes in Male Smokers
• For Males, Video Game Rewards Are All in the Mind
• more health news...»

Source: HealthDay News

Evidence Based Medicine Research for Klinefelter syndrome

Medical research articles related to Klinefelter syndrome include:

• Genetic Alterations Associated With Cryptorchidism.
• Testicular Cancer
• Guidelines on male infertility
• Infertility
• Assisted Reproduction Technology (Overview)
• Disorders of the Breast (Overview)
• Infertility, Male (Overview)
• more research...»

Click here to find more evidence-based articles on the TRIP Database

Videos for Klinefelter syndrome

Patient Surveys for Klinefelter syndrome

• Patient Profile Survey
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• Survey about the symptoms of your Klinefelter syndrome
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Reseach about Klinefelter syndrome

Visit our research pages for current research about Klinefelter syndrome treatments.

Clinical Trials for Klinefelter syndrome

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Klinefelter syndrome include:

• Androgen Effect on Klinefelter Syndrome Motor Outcome - This study is not yet open for patient recruitment (Current: 23 Nov 2006) - androgen oxandrolone
• Luveris(Lutropin Alfa for Injection) in Women With Hypogonadotropic Hypogonadism (LH <1.2 IU/L) - This study is currently recruiting patients (Current: 23 Nov 2006) - Luveris®(lutrpoin alfa for injection)
• Letrozole Treatment in Normal and GnRH Deficient Women - This study is currently recruiting patients (Current: 23 Nov 2006) - Letrozole,NAL-GLU GnRH antagonist,GnRH
• Pulsatile GnRH in Anovulatory Infertility - This study is currently recruiting patients (Current: 23 Nov 2006) - GnRH
• Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Children - This study is currently recruiting patients (Current: 23 Nov 2006)
• more trials...»

Read more about Clinical Trials for Klinefelter syndrome

Statistics for Klinefelter syndrome

• Medical statistics for Klinefelter syndrome
• Prevalence and incidence statistics for Klinefelter syndrome
• Death and Mortality statistics for Klinefelter syndrome
• Society statistics for Klinefelter syndrome

Klinefelter syndrome: Broader Related Topics

• Sex chromosome conditions
• Intersex conditions
• Y Chromosome Disorders
• X Chromosome Disorders
• more types...»

Types of Klinefelter syndrome

Types of Klinefelter syndrome

• XXXY syndrome
• more types...»

Read more about Types of Klinefelter syndrome

Stories from Users Related to Klinefelter syndrome

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User Interactive Forums

Read about other experiences, ask a question about Klinefelter syndrome, or answer someone else's question, on our message boards:

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• Tell us your medical story.
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Definitions of Klinefelter syndrome:

A common sex chromosomal anomaly in males characterized mainly by small testes with tubular hyalinization, azospermia with infertility, slight breast enlargement, elevated urinary gonadotropins, and decreased urinary 17-ketosteroids. Dull mentality has been noted. The affected individuals appear normal after birth, except for small testes. Most characteristic features become evident at adolescence as hypogonadism, gynecomastia, incomplete virilization with variable eunuchoidism, and dull mentality. Without testosterone therapy, most adult patients may become obese. Occasional abnormalities may include cryptorchidism, hypospadias, ataxia, scoliosis during adolescence, and diabetes mellitus in adulthood. - (Source - Diseases Database)

Syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male - (Source - WordNet 2.1)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Klinefelter syndrome as a "rare disease".
Source - Orphanet