Turner Syndrome

Also known as: TS.

What is Turner syndrome?

Turner syndrome is a condition that affects females. Girls with Turner syndrome tend to be shorter in stature, do not go through puberty without assistance, have infertility and can also have other problems such as learning disabilities and heart defects.

What causes Turner syndrome?

Turner syndrome is caused by a missing or partially missing X chromosome. All people have 46 chromosomes in each cell of their body (except the egg and sperm). The 46 chromosomes come in pairs because a person receives one of every chromosome from their mother and the matching member of the pair from their father. The first 22 pairs of chromosomes are the same in women and men and have numbers (pair 1, pair 2, pair 3, etc.). The 23rd pair is given letters and represents the genetic gender of a person. Girls typically have two X chromosomes (“XX”) and males have an X and a Y chromosome. Girls with Tuner syndrome typically have only one copy of the X chromosome (45,X). While most girls with Turner syndrome have an entirely missing X chromosome, some girls have a partially missing X chromosome and still have features of the condition.

What are the symptoms of Turner syndrome?

Girls and women with Turner syndrome are shorter than usual, do not go through puberty without assistance and are often infertile. Other symptoms include kidney problems, heart problems, swelling, behavioral disorders and learning disabilities.

What are Turner syndrome care options?

Turner syndrome cannot be cured. However, the symptoms related to it can be managed in a variety of ways, from hormone treatments to help puberty occur and increased growth to special teachers that help with learning and behavior disorders. Other symptoms such as heart or kidney problems can be treated.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: February 19, 2024 12:41 PM

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