MedlinePlus Health Topics

Last uploaded: January 29, 2019
Preferred Name

Primary ovarian insufficiency

Synonyms

Turner Syndrome

Definitions

<p>Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly.</p> <p>Other physical features typical of Turner syndrome are</p> <ul> <li> Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck</li> <li> Low hairline in the back</li> <li> Low-set ears</li> <li> Swollen hands and feet</li> </ul> <p>Most women with Turner syndrome are <a href='https://medlineplus.gov/femaleinfertility.html'>infertile</a>. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems.</p> <p>Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant.</p> <p >NIH: National Institute of Child Health and Human Development</p>

ID

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0041408

altLabel

Turner Syndrome

cui

C0041408

Date created

06/28/2001

definition

Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly.

Other physical features typical of Turner syndrome are

  • Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck
  • Low hairline in the back
  • Low-set ears
  • Swollen hands and feet

Most women with Turner syndrome are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems.

Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant.

NIH: National Institute of Child Health and Human Development

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Inverse of SY

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0085215

Mapped from

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0041408

Mapped to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0041408

MP HEALTH TOPIC URL

https://medlineplus.gov/turnersyndrome.html

MP OTHER LANGUAGE URL

Spanish https://medlineplus.gov/spanish/turnersyndrome.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

C0041408

prefLabel

Primary ovarian insufficiency

Related to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0018273

tui

T047

subClassOf

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

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0014136

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http://purl.bioontology.org/ontology/ICD10/Q96.0 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/OMIM/MTHU050435 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q96.9 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q96.0 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/Q96 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10/Q96 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/MESH/D014424 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D016649 Medical Subject Headings LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q96 International Classification of Diseases, 10th Edition, China CUI
http://purl.obolibrary.org/obo/DOID_5426 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q96.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q96.9 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10/Q96.9 International Classification of Diseases, Version 10 CUI