Turner syndrome
Noun
Meaning
Turner syndrome (uncountable)
(medicine, medical genetics) A particular genetic condition, caused by partially or completely missing an X chromosome (monosomy), that leads to sterility and other issues.
Synonyms: 45,X; 45,X0
Examples
A coarctation of the aorta in a female is suggestive of Turner syndrome, and suggests the need for further tests, such as a karyotype.
Also, abnormalities in other mesenchymal tissues (bone matrix and lymphatic vessels) suggests a similar primary mesenchymal defect in patients with Turner syndrome.
Also, a rare variety of Turner syndrome, known as "Ring-X Turner syndrome", has about a 60% association with intellectual disability.
Especially in mosaic cases of Turner syndrome that contains Y-chromosome (e.g. 45,X/46,XY) due to the risk of development of ovarian malignancy (most common is gonadoblastoma) gonadectomy is recommended.
Cognitive Turner syndrome does not typically cause intellectual disability or impair cognition.
Growth hormone is approved by the U.S. Food and Drug Administration for treatment of Turner syndrome and is covered by many insurance plans.