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Turner Syndrome Turner Syndrome
by Kimberly Allen, RN Turner syndrome is one of those conditions that you rarely hear about until you or someone you know is diagnosed... Turner Syndrome

by Kimberly Allen, RN

Turner syndrome is one of those conditions that you rarely hear about until you or someone you know is diagnosed with it.  Turner syndrome is a chromosomal disorder that affects females only.  Females born with Turner syndrome have either a missing or incomplete sex chromosome.  Normally females have two X chromosomes, a female with Turner syndrome has only one or one and parts of another.  Approximately one out of every 2,000 females born are born with Turner syndrome.  However, the number can be deceiving because the majority of fetuses with Turner syndrome do not survive past the first trimester.  In the US at least 10% of all spontaneous abortions are caused by Turner syndrome.
There are 3 different types of Turner syndrome which are defined by the alteration in the x chromosome.  The first is called monosomy, which is the complete absence of one X chromosome.  It can be caused by either a problem with the fathers sperm or the mothers egg.  Another is called mosaicism.  This type results because of errors made during cell division early in fetal development.  In this type, some cells have two X chromosomes while others do not.  Some may have only one X chromosome or one X with an incomplete X chromosome.  Occasionally, there are cases of Turner syndrome with Y chromosome material.  In this type some cells have one X chromosome while others have one X along with some Y chromosome material.  These fetuses develop as girls, however due to the Y chromosome material they are at risk for developing certain types of cancer.
Girls born with Turner syndrome frequently have numerous other health issues due to the improper development of some organs ans systems of the body.  Some of the most common issues involve the heart.  many girls are born with either heart defects or mild abnormalities in the structure of the heart.  Some of these defects can be severe leading to serious complications, for example defects in the aorta, which is the blood vessel that takes the oxygenated blood from the heart to the rest of the body, can cause a tear in the lining of the aorta.  Frequently there are defects in the valves, especially the one between the heart and the aorta which can lead to serious problems.  Girls with Turner syndrome are also prone to diabetes and hypertension which increase their risk of heart diseases.  Hearing loss and ear infections are also common in girls with Turner syndrome.  There are also kidney problems in approximately one third of the girls born with Turner syndrome which can cause hypertension and frequent urinary tract infections.  There are also certain disorders of the immune system that are common in Turner syndrome like hypothyroidism.  Girls born with Turner syndrome are usually shorter than average, though they may appear to be growing at the normal rate for the first three years it then slows down and they do not get that growth spurt that comes with puberty.  The ovaries in these girls do not function so they do not begin menstruating unless given hormone replacement therapy.  Though it is possible for them to get pregnant with fertility treatments they are almost always high risk pregnancies.
The main treatment for all girls born with Turner syndrome involves hormone therapies including growth hormone therapy to increase the girls height as much as possible and estrogen therapy.  Without estrogen therapy girls with Turner syndrome will not begin puberty.  Estrogen therapy is given until the average age of menopause.  All other treatments are related to other health issues especially any problems with the heart.  Your Dr will advise you on treatments needed depending on what issues affect your daughter.  It is possible she may need to see several different specialists throughout her lifetime.  Your Dr can help you locate a facility near you that provides specialized care.  It’s important to research and become knowledgeable about Turner syndrome and all the potential problems it encompasses in order to actively participate in your daughters care.

Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at