Klinefelter's syndrome (patient information)

For the WikiDoc page for this topic, click here

Klinefelter's syndrome (patient information)
ICD-10	Q98.0-Q98.4
ICD-9	758.7
DiseasesDB	7189
MedlinePlus	000382
MeSH	D007713

WikiDoc Resources for Klinefelter's syndrome (patient information)
Articles
Most recent articles on Klinefelter's syndrome (patient information) Most cited articles on Klinefelter's syndrome (patient information) Review articles on Klinefelter's syndrome (patient information) Articles on Klinefelter's syndrome (patient information) in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Klinefelter's syndrome (patient information) Images of Klinefelter's syndrome (patient information) Photos of Klinefelter's syndrome (patient information) Podcasts & MP3s on Klinefelter's syndrome (patient information) Videos on Klinefelter's syndrome (patient information)
Evidence Based Medicine
Cochrane Collaboration on Klinefelter's syndrome (patient information) Bandolier on Klinefelter's syndrome (patient information) TRIP on Klinefelter's syndrome (patient information)
Clinical Trials
Ongoing Trials on Klinefelter's syndrome (patient information) at Clinical Trials.gov Trial results on Klinefelter's syndrome (patient information) Clinical Trials on Klinefelter's syndrome (patient information) at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Klinefelter's syndrome (patient information) NICE Guidance on Klinefelter's syndrome (patient information) NHS PRODIGY Guidance FDA on Klinefelter's syndrome (patient information) CDC on Klinefelter's syndrome (patient information)
Books
Books on Klinefelter's syndrome (patient information)
News
Klinefelter's syndrome (patient information) in the news Be alerted to news on Klinefelter's syndrome (patient information) News trends on Klinefelter's syndrome (patient information)
Commentary
Blogs on Klinefelter's syndrome (patient information)
Definitions
Definitions of Klinefelter's syndrome (patient information)
Patient Resources / Community
Patient resources on Klinefelter's syndrome (patient information) Discussion groups on Klinefelter's syndrome (patient information) Patient Handouts on Klinefelter's syndrome (patient information) Directions to Hospitals Treating Klinefelter's syndrome (patient information) Risk calculators and risk factors for Klinefelter's syndrome (patient information)
Healthcare Provider Resources
Symptoms of Klinefelter's syndrome (patient information) Causes & Risk Factors for Klinefelter's syndrome (patient information) Diagnostic studies for Klinefelter's syndrome (patient information) Treatment of Klinefelter's syndrome (patient information)
Continuing Medical Education (CME)
CME Programs on Klinefelter's syndrome (patient information)
International
Klinefelter's syndrome (patient information) en Espanol Klinefelter's syndrome (patient information) en Francais
Business
Klinefelter's syndrome (patient information) in the Marketplace Patents on Klinefelter's syndrome (patient information)
Experimental / Informatics
List of terms related to Klinefelter's syndrome (patient information)

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant Editor(s)-In-Chief: Alexandra M. Palmer

Overview

Klinefelter's syndrome is the presence of an extra X chromosome in a male.

What are the symptoms of Klinefelter's syndrome?

The most common symptom is infertility. Other symptoms may include:

• Abnormal body proportions (long legs, short trunk, shoulder equal to hip size)
• Enlarged breasts (gynecomastia)
• Sexual problems
• Less than normal amount of pubic, armpit, and facial hair
• Small, firm testicles
• Small penis
• Tall height

What are the causes of Klinefelter's syndrome?

Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. The two sex chromosomes determine if you become a boy or a girl. Females normally have two of the same sex chromosomes, written as XX. Males normally have an X and a Y chromosome (written as XY).

Klinefelter's syndrome is one of a group of sex chromosome problems. It results in males who have at least one extra X chromosome. Usually, this occurs due to one extra X (written as XXY).

Klinefelter's syndrome is found in about 1 out of every 500 - 1,000 newborn males. Women who have pregnancies after age 35 are slightly more likely to have a boy with this syndrome than younger women.

Who is at highest risk?

Klinefelter's syndrome is a genetic disorder, so anyone with a family history of the syndrome is at risk.

When to seek urgent medical care?

Call for an appointment with your health care provider if a boy does not develop secondary sexual characteristics at puberty.

A genetics counselor can provide information about this condition, and help explain abnormal chromosome findings and possible complications. The counselor will also be familiar with local and national support groups.

An endocrinologist and infertility specialist may also be helpful.

Diagnosis

Adults may come to the doctor because of infertility. School-age children may be brought in to because of learning problems.

The following tests may be performed:

• Karyotyping
• Semen count
• Serum estradiol levels (a type of estrogen)
• Serum follicle stimulating hormone
• Serum luteinizing hormone
• Serum testosterone

Treatment options

Testosterone therapy may be prescribed. This can help:

• Grow body hair
• Improve appearance of muscles
• Improve concentration
• Improve mood and self esteem
• Increase energy and sex drive
• Increase strength

Most men with this syndrome are not able to father children. However, some men have been able to have children. An infertility specialist may be able to help.

Where to find medical care for Klinefelter's syndrome?

Directions to Hospitals Treating Klinefelter's syndrome

What to expect (Outlook/Prognosis)?

Most patients have a normal, productive life.

Possible complications

The syndrome increases the risk of:

• Attention-deficit hyperactivity disorder
• Autoimmune disorders such as lupus, rheumatoid arthritis, and Sjogren syndrome
• Breast cancer
• Depression
• Dyslexia
• Extragonadal germ cell tumor (a rare tumor)
• Learning disabilities, despite normal or high IQ
• Lung disease
• Osteoporosis
• Varicose veins

Enlarged teeth with a thinning surface (taurodontism) is very common in Klinefelter's syndrome. It can be diagnosed by dental x-rays.

Source

http://www.nlm.nih.gov/medlineplus/ency/article/000382.htm