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Turner Syndrome


The Basics


Written by the doctors and editors at UpToDate � �
What is Turner syndrome? " � Turner syndrome is a genetic problem that affects only girls. It keeps a girl from growing normally and from developing normal ovaries. It can also cause problems with the kidneys, heart, and other organs. � �
What are the symptoms of Turner syndrome? " � Girls with Turner syndrome can: � �
  • Be short
  • Have a square-shaped chest
  • Be born with swollen or puffy hands and feet
  • Have a webbed neck
  • Have nipples that are far apart

Girls with Turner syndrome do not have normal ovaries so they do not go through puberty on their own. That means they do not form breasts or have periods unless they are treated with female hormones. They also do not grow as much as they should unless they take growth hormone shots. � �
Girls with Turner syndrome are usually as smart as those without the condition, but they can have trouble with certain types of mental tasks. They can also have other problems, including: � �
  • Heart problems
  • Kidney or liver problems
  • Thyroid disease
  • Hearing loss and ear infections
  • Eye problems

Is there a test for Turner syndrome? " � Yes. If a doctor or nurse thinks a child might have Turner syndrome, he or she can order a blood test to look for the genetic problem that causes it. � �
How is Turner syndrome treated? " � There is no way to cure Turner syndrome, but there are ways to reduce the problems it causes. Girls can be treated with hormones to help them grow to a normal height and to go through the changes that normally happen at puberty. At various points throughout their lives, they must also be checked for the problems that Turner syndrome can cause. This involves hearing tests, many different blood tests, and some tests to check the condition of the heart. If any of those problems happen, they must get treated for those as well. � �
What if my daughter wants to have children? " � Even with treatment, many girls with Turner syndrome cant have children when they grow up. Some can get pregnant with a special treatment called "in-vitro fertilization, " � which uses another woman's eggs. If your daughter wants to have children, when she is ready, she should ask her doctor what her options are. � �
What will my child's life be like? " � Girls with Turner syndrome need special medical attention all of their lives. But very few girls with Turner syndrome get the medical care they need when they are adults. When your child grows up, make sure she understands that she should keep getting check-ups every year. The doctor should check her for signs of: � �
  • Heart problems
  • Thyroid disease
  • Diabetes
  • High cholesterol
  • Liver problems
  • Hearing loss
  • Eye problems
  • Osteoporosis (a condition that weakens bones)

The Turner Syndrome Society of the United States has more information on the types of care people with Turner syndrome need. They can be reached at 1-800-365-9944 or www.turnersyndrome.org. � �
All topics are updated as new evidence becomes available and our peer review process is complete. � �
This topic retrieved from UpToDate on: Nov 04, 2014. � �
Topic 86453 Version 2.0 � �
Release: 22.8 - C22.206 � �
� � 2014 UpToDate, Inc. All rights reserved. � �

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This information is not specific medical advice and does not replace information you receive from your health care provider. This is only a brief summary of general information. It does NOT include all information about conditions, illnesses, injuries, tests, procedures, treatments, therapies, discharge instructions or life-style choices that may apply to you. You must talk with your health care provider for complete information about your health and treatment options. This information should not be used to decide whether or not to accept your health care providers advice, instructions or recommendations. Only your health care provider has the knowledge and training to provide advice that is right for you.The use of UpToDate content is governed by the UpToDate Terms of Use. � �2014 UpToDate, Inc. All rights reserved. � �

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