Turner Syndrome (Print Version)

Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly. Most are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis and thyroid problems.

Other physical features typical of Turner syndrome are

Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck
Low hairline in the back
Low-set ears
Swollen hands and feet

There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can stimulate sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant.

National Institute of Child Health and Human Development

Start Here

Learning about Turner Syndrome(National Human Genome Research Institute) - http://www.genome.gov/19519119

Overviews

Turner Syndrome(Hormone Foundation) - Links to PDF - http://www.hormone.org/Resources/Growth/upload/bilingual_TurnerSyndrome.pdf
Turner Syndrome(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/turner-syndrome/DS01017/METHOD=print&DSECTION=all
Turner Syndrome(National Institute of Child Health and Human Development) - http://www.nichd.nih.gov/health/topics/Turner_Syndrome.cfm

Diagnosis/Symptoms

Clinical Features of Turner Syndrome(National Institute of Child Health and Human Development) - http://turners.nichd.nih.gov/clinical.html

Treatment

Get the Facts: Growth Hormone Issues in Children and Adults(Hormone Foundation) - Large PDF file - http://www.hormone.org/Resources/upload/GHIssuesinChildrenandAdults.pdf
Hormone Replacement Therapy(National Institute of Child Health and Human Development) - http://www.nichd.nih.gov/health/topics/Hormone_Replacement_Therapy.cfm

Coping

Turner Syndrome: A Guide for Families(Turner Syndrome Society of the United States) - Large PDF file - http://turnersyndrome.org/index.php?option=com_content&task=view&id=53&Itemid=58

Related Issues

When My Child May Have Fertility Problems(MAGIC Foundation) - http://www.magicfoundation.org/www/docs/115.833/child_fertility_problems.html

Clinical Trials

ClinicalTrials.gov: Turner Syndrome(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Turner+Syndrome%22

Genetics

Genetic Features of Turner Syndrome(National Institute of Child Health and Human Development) - http://turners.nichd.nih.gov/genetic.html
Genetics Home Reference: Turner syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=turnersyndrome

Journal Articles

References and abstracts from MEDLINE/PubMed (National Library of Medicine)

Article: Turner's syndrome with situs inversus totalis. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18780594&tool=MedlinePlus
Article: Turner syndrome mosaicism: an unusual case with a de novo... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18670067&tool=MedlinePlus
Article: A rare association of hyperparathyroidism and Turner's syndrome--a case report. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18615398&tool=MedlinePlus
Turner Syndrome -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=turner+syndrome[majr]+AND+humans[mh]+AND+english[la]+NOT(letter[pt]+OR+editorial[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus

Directories

AACE Physician Finder(American Association of Clinical Endocrinologists) - http://www.aace.com/resources/memsearch.php
Turner Syndrome Society: Local Chapters(Turner Syndrome Society of the United States) - http://turnersyndrome.org/index.php?option=com_content&task=view&id=23&Itemid=34

Organizations

MAGIC Foundation - http://www.magicfoundation.org/
National Institute of Child Health and Human Development - http://www.nichd.nih.gov/
Turner Syndrome Society of the United States - http://www.turnersyndrome.org/

Children

Turner Syndrome(Nemours Foundation) - http://kidshealth.org/parent/medical/sexual/turner.html

Teenagers

Teens with Turner Syndrome(Turner Syndrome Society of the United States) - http://turnersyndrome.org/index.php?option=com_content&task=blogcategory&id=17&Itemid=39
Turner Syndrome(Nemours Foundation) - http://kidshealth.org/teen/diseases_conditions/genetic/turner.html

Women

Women with Turner Syndrome (TS)(Turner Syndrome Society of the United States) - http://turnersyndrome.org/index.php?option=com_content&task=blogcategory&id=16&Itemid=38

You may also be interested in these MedlinePlus related pages:

Endocrine System - http://www.nlm.nih.gov/medlineplus/endocrinesystem.html
Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html

The primary NIH organization for research on Turner Syndrome is the National Institute of Child Health and Human Development - http://www.nichd.nih.gov/