Defining Key Terms in Discussing Turner Syndrome

Turner syndrome definitions

Medical information can be confusing, and defining key terms in discussing Turner Syndrome (TS) is important. In this post, we aim to provide definitions of some general medical terms and some specifically associated with TS.

General Medical Terms

Amniocentesis: procedure in which a small amount of amniotic fluid is removed from the uterus of a pregnant woman to screen for fetal developmental problems

Autoimmune disease: a condition in which the immune system attacks the body

Chronic condition: condition or disease that is persistent or long-lasting in its effects, or a disease that comes with time; also refers to diseases that have lasted for more than two or three months

Comorbidity: presence of two or more diseases or medical conditions at the same time (e.g., having both asthma and diabetes)

Endocrine system: made up of glands and organs that make hormones, which control many important functions in the body

Genetics: study of heredity and variations having to do with genes–the cause of TS–and DNA; many traits, like hair and eye color, are genetic

Hormones: substances that act as chemical messengers in our bloodstream that travel to various tissues and organs, some of which are important to growth and development

Spontaneous puberty: when the occurrence of puberty is spontaneous or natural and not a result of induction from hormone therapy or other treatment

Bicuspid aortic valve: inherited heart disease in which there are only two leaflets on a valve instead of three; causes the valve–which regulates blood flow from the heart into the aorta–to narrow and prevents it from opening fully

Chromosomal disorder: one of the most important key terms in discussing TS, the result of an abnormal change in the number or structure of chromosomes; different from genetic disorder, which generally involves a change in only a single gene (part of chromosomes); humans have 23 pairs of chromosomes, one part of the pair from each parent, of different characteristic importance)

Coarctation: literally, “to press together”; birth defect characterized by narrowing of part of the aorta (tube that carries oxygen-rich blood to the body)

Delayed puberty: when an adolescent goes through growth changes later than normally expected; on average, begins for girls at age 11 and boys at age 12

Estrogen replacement therapy (ERT): involves taking medication to replace the estrogen that one’s body stops making

Growth hormone therapy (GHT): use of growth hormone (GH) to stimulate growth as a part of treatment regimen

Karyotype: another very important term in discussing TS, image of a collection of chromosomes used to look for an abnormal number or structure of chromosomes

Primary amenorrhea: absence of the first period in a young woman by the age of 16

X Chromosome: one of the two sex chromosomes in humans, who, like most mammals, have an X and a Y

Did we miss any key terms in discussing Turner Syndrome? Write a comment below to let us know and we may do a part 2!

Written by Dhruvi Patel, TSF volunteerblog writer, and edited by Susan Herman, TSF volunteer blog editor and translator.

Visit the TSF website to see more information about Turner Syndrome.

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