Preferred Name

XXY male

Synonyms

Klinefelter Syndrome

Definitions

<p>Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development.</p> <p>The most common symptom is <a href="https://medlineplus.gov/infertility.html">infertility</a>. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS boys may have:</p><ul> <li>Smaller testes and penis</li> <li>Breast growth</li> <li>Less facial and body hair</li> <li>Reduced muscle tone</li> <li>Narrower shoulders and wider hips</li> <li>Weaker bones</li> <li>Decreased sexual interest</li> <li>Lower energy</li> </ul> <p>KS males may have learning or language problems. They may be quiet and shy and have trouble fitting in.</p> <p>A genetic test can diagnose KS. There is no cure, but treatments are available. It is important to start treatment as early as possible. With treatment, most boys grow up to have normal lives.</p> <p>Treatments include testosterone replacement therapy and breast reduction surgery. If needed, physical, speech, language, and occupational therapy may also help.</p> <p class="">NIH: National Institute of Child Health and Human Development</p>

ID

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0022735

altLabel

Klinefelter Syndrome

cui

C0022735

Date created

08/16/2001

definition

Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development.

The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS boys may have:

  • Smaller testes and penis
  • Breast growth
  • Less facial and body hair
  • Reduced muscle tone
  • Narrower shoulders and wider hips
  • Weaker bones
  • Decreased sexual interest
  • Lower energy

KS males may have learning or language problems. They may be quiet and shy and have trouble fitting in.

A genetic test can diagnose KS. There is no cure, but treatments are available. It is important to start treatment as early as possible. With treatment, most boys grow up to have normal lives.

Treatments include testosterone replacement therapy and breast reduction surgery. If needed, physical, speech, language, and occupational therapy may also help.

NIH: National Institute of Child Health and Human Development

Inverse of SY

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0022735

Mapped from

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0022735

Mapped to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0022735

MP OTHER LANGUAGE URL

Spanish https://medlineplus.gov/spanish/klinefeltersyndrome.html

MP PRIMARY INSTITUTE URL

Eunice Kennedy Shriver National Institute of Child Health and Human Development https://www.nichd.nih.gov/Pages/index.aspx

notation

C0022735

prefLabel

XXY male

Scope Statement

Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. Read about the common symptoms and treatments. https://medlineplus.gov/klinefeltersyndrome.html

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456603

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0025266

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10/Q98.4 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q98.4 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/D007713 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10/Q98.0 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/OMIM/MTHU032889 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q98.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q98.0 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q98.4 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/OMIM/MTHU028322 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI