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Diseases

Genetic and Rare Diseases Information Center (GARD)

Klinefelter syndrome


Other Names for this Disease
  • Klinefelter's syndrome
  • XXY syndrome
Related Diseases
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Symptoms

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What are the signs and symptoms of Klinefelter syndrome?

The signs and symptoms of Klinefelter syndrome (KS) vary among affected people. Some men with KS have no symptoms of the condition or are only mildy affected. In these cases, they may not even know that they are affected by KS. When present, symptoms may include:[1][2][3]
  • Small, firm testicles
  • Delayed or incomplete puberty
  • Breast growth (gynecomastia)
  • Reduced facial and body hair
  • Infertility
  • Tall height
  • Abnormal body proportions (long legs, short trunk, shoulder equal to hip size)
  • Learning disablity
  • Speech delay

Whether or not a male with KS has visible symptoms depends on many factors, including how much testosterone his body makes, if he is mosaic (with both XY and XXY cells), and his age when the condition is diagnosed and treated.[3]
Last updated: 10/12/2015

The Human Phenotype Ontology provides the following list of signs and symptoms for Klinefelter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of chromosome segregation 90%
Decreased fertility 90%
Disproportionate tall stature 90%
Neurological speech impairment 90%
Abnormal hair quantity 50%
Abnormality of movement 50%
Clinodactyly of the 5th finger 50%
Cryptorchidism 50%
Eunuchoid habitus 50%
Hypoplasia of penis 50%
Long face 50%
Mandibular prognathia 50%
Obesity 50%
Reduced bone mineral density 50%
Scoliosis 50%
Single transverse palmar crease 50%
Venous insufficiency 50%
Abnormality of calvarial morphology 7.5%
Abnormality of the mitral valve 7.5%
Neoplasm 7.5%
Type II diabetes mellitus 7.5%

Last updated: 7/1/2016

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Klinefelter syndrome. Genetics Home Reference. January 2013; http://ghr.nlm.nih.gov/condition=klinefeltersyndrome.
  2. Kirmse B. Klinefelter syndrome. MedlinePlus. November 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000382.htm.
  3. Klinefelter syndrome. Eunice Kennedy Shriver National Institute of Child Health and Human Development. November 2013; http://www.nichd.nih.gov/health/topics/klinefelter/Pages/default.aspx.


Other Names for this Disease
  • Klinefelter's syndrome
  • XXY syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.