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Turner syndrome | healthdirect

<!DOCTYPE html> <!-- build number 711 --> <html lang="en-AU"> <head> <title>Turner syndrome | healthdirect</title> <script src="https://www.google.com/recaptcha/api.js?render=6LeuO7AbAAAAAFFZKM3tkkJpyASWHzTJ-_fpMK7y" async defer></script> <meta name="apple-itunes-app" content="app-id=1021494621"> <meta name="description" content="Turner syndrome is a genetic disorder caused by a missing or partially missing X chromosome. 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It might cause problems with hearing, vision and <a href="https://www.pregnancybirthbaby.org.au/about-infertility">fertility</a>. It does not usually affect intellectual ability. Treatment with hormones can help manage some of the problems.</p> <p>Turner syndrome is a <a href="/guide-to-genetic-disorders">genetic disorder</a>. This means there has been a change in the person’s DNA. Normally, a female has two X chromosomes in each cell. Turner syndrome happens when all or part of one of these X chromosomes is missing. The change in DNA can affect the child’s development.</p> <p>Turner syndrome affects about 1 in every 2,500 females born each year. It is also known as 45X, monosomy X and Ullrich-Turner syndrome. It does not affect people assigned male at birth.</p> <h2 id="symptoms">What are the symptoms of Turner syndrome?</h2> <p>People with Turner syndrome are often short in height. They sometimes have infertility. This is due to their <a href="/female-reproductive-system">ovaries</a> not developing properly.</p> <p>Females with Turner syndrome might also have some or all of the following health issues:</p> <ul> <li>difficulty feeding in infancy</li> <li>problems with hearing or eyesight</li> <li>problems with coordination</li> <li>puffiness of the hands and feet</li> <li>slower sexual development</li> <li>problems with the <a href="/heart-and-cardiovascular-conditions">heart</a>, <a href="/liver-conditions-and-diseases">liver</a> or <a href="/kidneys">kidneys</a></li> </ul> <a href="/symptom-checker" class="cont_layout-media-object__icon-standout"> <i class="cont_layout-media-object__icon-standout-left dor-icon_user-md"></i> <p class="cont_layout-media-object__icon-standout-right"><strong>CHECK YOUR SYMPTOMS</strong> — Use the <strong class="cont_underline">Symptom Checker</strong> and find out if you need to seek medical help.</p> </a> <h2 id="diagnosed">How is Turner syndrome diagnosed?</h2> <p>Turner syndrome might be suspected if a young child has symptoms. A doctor needs to arrange for <a href="/genetic-testing">genetic testing</a> to find out if the child has Turner syndrome.</p> <p>A test for Turner syndrome can also be done before birth. This might be organised if an <a href="/ultrasound">ultrasound</a> or other <a href="https://www.pregnancybirthbaby.org.au/prenatal-screening">prenatal test</a> shows signs of Turner syndrome.</p> <p>Sometimes a person might not be diagnosed with Turner syndrome until they are older. Problems with fertility might be the first reason someone sees a doctor.</p> <a href="/australian-health-services" class="cont_layout-media-object__icon-standout"> <i class="cont_layout-media-object__icon-standout-left dor-icon_hospital"></i> <p class="cont_layout-media-object__icon-standout-right"><strong>FIND A HEALTH SERVICE</strong> &mdash; The <strong class="cont_underline">Service Finder</strong> can help you find doctors, pharmacies, hospitals and other health services.</p> </a> <a href="/question-builder" class="cont_layout-media-object__icon-standout"> <i class="cont_layout-media-object__icon-standout-left dor-icon_question"></i> <p class="cont_layout-media-object__icon-standout-right"><strong>ASK YOUR DOCTOR</strong> &mdash; Preparing for an appointment? Use the <strong class="cont_underline">Question Builder</strong> for general tips on what to ask your GP or specialist.</p> </a> <h2 id="living-with">Living with Turner syndrome</h2> <p>Someone with Turner syndrome will need regular medical check-ups to make sure they stay healthy. Different people will have their own needs for health care. Some health care teams may include hearing or eye specialists or <a href="/occupational-therapy">occupational therapists</a>.</p> <h2 id="treatments">What are the treatments for Turner syndrome?</h2> <p><a href="/human-growth-hormone">Growth hormone treatment</a> can help bone growth and improve height.</p> <p>Hormone therapy (oestrogen) may also be used to start <a href="/puberty-for-girls">puberty</a>. The hormones are given to replace those that normally come from the ovaries.</p> <p>People at risk for ischaemic heart disease might be treated with <a href="/statins">statins</a>.</p> <p>Everyone with Turner syndrome can benefit from a <a href="/healthy-eating">healthy diet</a> and <a href="/tips-for-getting-active">exercise</a>.</p> <h2 id="complications">What are the complications of Turner syndrome?</h2> <p>Turner syndrome increases the risk of some other health issues such as:</p> <ul> <li>type 2 <a href="/diabetes">diabetes</a></li> <li>high <a href="/cholesterol">cholesterol</a> levels</li> <li><a href="/high-blood-pressure-hypertension">high blood pressure</a></li> <li>differences in the way you think and reason</li> </ul> <p>Most females (90%) with Turner syndrome have normal intelligence and a normal lifespan. Some may have specific learning difficulties and mental health challenges.</p> <p>If someone with Turner syndrome wants to have children, they will probably need some help with their fertility.</p> <p>Less common complications include:</p> <ul> <li><a href="/hearing-loss">hearing loss</a></li> <li><a href="/osteoporosis">osteoporosis</a></li> <li><a href="/hypothyroidism">low thyroid hormone</a></li> <li><a href="/coeliac-disease">coeliac disease</a> or gluten intolerance</li> <li>bowel diseases</li> </ul> <p>Doctors may check you for these conditions.</p></div> <footer class="main_content-article-text-footer"> <div> <h4>Source<span>s</span>:</h4> <span> <a href="https://eje.bioscientifica.com" target="_blank" title="European Journal of Endocrinology">European Journal of Endocrinology</a> <em>(Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting)<span></span></em>, <a href="https://www.rch.org.au" target="_blank" title="The Royal Children’s Hospital Melbourne">The Royal Children’s Hospital Melbourne</a> <em>(Turner syndrome)<span></span></em>, <a href="https://bestpractice.bmj.com" target="_blank" title="The Royal Children’s Hospital Melbourne">The Royal Children’s Hospital Melbourne</a> <em>(Turner’s syndrome – Complications)<span></span></em>, <a href="https://rarediseases.info.nih.gov" target="_blank" title="Genetic and Rare Diseases Information Center, NIH">Genetic and Rare Diseases Information Center, NIH</a> <em>(Turner Syndrome)<span></span></em> </span> </div> </footer> <p>Learn more here about the <a href="https://www.healthdirect.gov.au/about-our-content">development and quality assurance of healthdirect content</a>.</p> <p>Last reviewed: August 2022</p> <div class="main_content-back-to-top"><a href="#backToTop"><i class="dor-icon_caret-up"></i><br><span class="tablet-up__inline">Back To </span>Top</a></a></div> </main> <!--<button class="main_content-article-btn-read-full">Read full article <i aria-hidden="true" class="main_content-article-btn-read-full-icon"></i></button>--> <section class="main_content-links print-hidden"> <section class="related-concept-section"> <h2>Search our site for</h2> <ul> <li> <a class="dor-button__pill-btn" href="/search-results/Genetic Diseases" title="Search results for:Genetic Diseases">Genetic Diseases</a> </li> </ul> </section> </section> <!-- <content-feedback class="veyron-component" feedbackurl="https://healthdirect.au1.qualtrics.com/SE/?SID=SV_0cQyjgUEO6gU3GZ&Page=https://www.healthdirect.gov.au/turner-syndrome"></content-feedback> --> <section class="main_content-search"> <header> <h2>Need more information?</h2> <p>These trusted information partners have more on this topic.</p> </header> <div class="main_content-general-text"> <div> <div class="main_content-search-results-partners"> <nav class="dor-tabs__2 veyron-search-tabs" role="tablist"> <label class="dor-tabs_item" role="tab" aria-controls="searchGeneralResults" aria-selected="true"> <input type="radio" checked name="tab"> <div class="dor-tabs_item-btn veyron-search-tab-btn">General search results</div> </label> <label class="dor-tabs_item" role="tab" aria-controls="searchProfessionalResults" aria-selected="false"> <input type="radio" name="tab"> <div class="dor-tabs_item-btn veyron-search-tab-btn">Results for medical professionals</div> </label> </nav> <section id="searchGeneralResults" data-total-records="1"> <p>Top results</p> <a href="https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/turners-syndrome" data-partner-url="partners/better-health-channel" class="main_content-search-tile" target="_blank" data-guid="ECM001|6ead5917-70fd-4756-acb3-07cc6728935c"> <h3>Turner's syndrome - Better Health Channel</h3> <div class="main_content-search-tile-intro"> <p>Turner's syndrome is a random genetic disorder that affects females, causing short stature and infertility.</p> </div> <p class="main_content-search-tile-read-more"> <i aria-hidden="true" class="main_content-search-tile-read-more-icon"></i> <i id="read-more">Read more on Better Health Channel website</i></p> <img class="main_content-search-tile-logo" alt="Better Health Channel" src="https://media.healthdirect.org.au/images/logos/h40/bhc-rectangle-image-e99950.png"> </a> <section class="main_content-search-show-more hidden"> <button class="main_content-search-show-more-btn" title="Show more search results" rel="nofollow">Show more</button> <i aria-hidden="true" class="main_content-search-show-more-loading"></i> </section> </section> <section id="searchProfessionalResults" class="hidden" data-total-records="96"> <p>Top results</p> <a href="https://pathologytestsexplained.org.au/ptests-pro.php?q=Fragile+X+gene" data-partner-url="partners/pathology-tests-explained" class="main_content-search-tile" target="_blank" data-guid="ECM001|dd3a0d9a-f944-46bf-8368-ca8507ee66da"> <h3>Fragile X gene | Pathology Tests Explained</h3> <div class="main_content-search-tile-intro"> <p>Fragile X CGG repeat sizing is routinely performed using a polymerase chain reaction (PCR) method with fluorescently labelled primers. The labelled pieces of</p> </div> <p class="main_content-search-tile-read-more"><i aria-hidden="true" class="main_content-search-tile-read-more-icon"></i> Read more on Pathology Tests Explained website</p> <img class="main_content-search-tile-logo" alt="Pathology Tests Explained" src="https://media.healthdirect.org.au/images/logos/h40/ptex-vertical-orientation-colored-600x275px-01-0ae8ba.png"> </a> <a href="https://www.racgp.org.au/clinical-resources/clinical-guidelines/key-racgp-guidelines/view-all-racgp-guidelines/genomics-in-general-practice/disease-specific-topics/fragile-x-syndrome-and-associated-conditions" data-partner-url="partners/racgp-the-royal-australian-college-of-general-practitioners" class="main_content-search-tile" target="_blank" data-guid="ECM001|c5b61cec-7fe3-4a8e-8850-ed0dbd462624"> <h3>RACGP - Fragile X syndrome and associated conditions</h3> <div class="main_content-search-tile-intro"> <p>Reproduced with permission from The Royal Australian College of General Practitioners. FXS is the most common inherited cause of ID, and the second most common cause of ID overall (after Down syndrome).</p> </div> <p class="main_content-search-tile-read-more"><i aria-hidden="true" class="main_content-search-tile-read-more-icon"></i> Read more on RACGP - The Royal Australian College of General Practitioners website</p> <img class="main_content-search-tile-logo" alt="RACGP - The Royal Australian College of General Practitioners" src="https://media.healthdirect.org.au/images/logos/h40/racgp_master_rgb-f5ccb3.png"> </a> <a href="https://pathologytestsexplained.org.au/ptests-pro.php?q=Fragile+X+messenger+ribonucleoprotein+1+%28FMR1%29+mutation" data-partner-url="partners/pathology-tests-explained" class="main_content-search-tile" target="_blank" data-guid="ECM001|a65aae33-e957-41ab-a2cb-fe925cc49a4f"> <h3>Fragile X messenger ribonucleoprotein 1 (FMR1) mutation | Pathology Tests Explained</h3> <div class="main_content-search-tile-intro"> <p>The FMR1 gene contains the DNA code to produce a protein called FMRP. This protein is present in a variety of tissues but is especially important in t</p> </div> <p class="main_content-search-tile-read-more"><i aria-hidden="true" class="main_content-search-tile-read-more-icon"></i> Read more on Pathology Tests Explained website</p> <img class="main_content-search-tile-logo" alt="Pathology Tests Explained" src="https://media.healthdirect.org.au/images/logos/h40/ptex-vertical-orientation-colored-600x275px-01-0ae8ba.png"> </a> <a href="https://www.racgp.org.au/clinical-resources/clinical-guidelines/key-racgp-guidelines/view-all-racgp-guidelines/genomics-in-general-practice/genetic-tests-and-technologies/prenatal-testing" data-partner-url="partners/racgp-the-royal-australian-college-of-general-practitioners" class="main_content-search-tile" target="_blank" data-guid="ECM001|97bd30ee-dfdd-48b9-9041-242e35dc601b"> <h3>RACGP - Prenatal testing</h3> <div class="main_content-search-tile-intro"> <p>Reproduced with permission from The Royal Australian College of General Practitioners</p> </div> <p class="main_content-search-tile-read-more"><i aria-hidden="true" class="main_content-search-tile-read-more-icon"></i> Read more on RACGP - The Royal Australian College of General Practitioners website</p> <img class="main_content-search-tile-logo" alt="RACGP - The Royal Australian College of General Practitioners" src="https://media.healthdirect.org.au/images/logos/h40/racgp_master_rgb-f5ccb3.png"> </a> <a href="https://menopause.org.au/hp/position-statements/eshre-guideline-on-the-management-of-premature-ovarian-insufficiency" data-partner-url="partners/australasian-menopause-society" class="main_content-search-tile" target="_blank" data-guid="ECM001|5e870c48-7811-4f98-8e76-5ee915bf094e"> <h3>ESHRE Guideline on the management of premature ovarian insufficiency - Australasian Menopause Society</h3> <div class="main_content-search-tile-intro"> <p>Management of women with premature ovarian insufficiency - Guideline of the European Society of Human Reproduction and Embryology</p> </div> <p class="main_content-search-tile-read-more"><i aria-hidden="true" class="main_content-search-tile-read-more-icon"></i> Read more on Australasian Menopause Society website</p> <img class="main_content-search-tile-logo" alt="Australasian Menopause Society" src="https://media.healthdirect.org.au/images/logos/h40/amslogo-9e3e88.png"> </a> <a href="https://www.menopause.org.au/hp/information-sheets/spontaneous-premature-ovarian-insufficiency" data-partner-url="partners/australasian-menopause-society" class="main_content-search-tile" target="_blank" data-guid="ECM001|ce1f35fb-ee31-4fee-b192-b53ae3ec3bc1"> <h3>Spontaneous Premature Ovarian Insufficiency - Australasian Menopause Society</h3> <div class="main_content-search-tile-intro"> <p>Spontaneous Premature Ovarian Insufficiency is menopause occurring spontaneously in women younger than 40 years of age and affects approximately 1% of women. This was previously referred to as premature ovarian failure</p> </div> <p class="main_content-search-tile-read-more"><i aria-hidden="true" class="main_content-search-tile-read-more-icon"></i> Read more on Australasian Menopause Society website</p> <img class="main_content-search-tile-logo" alt="Australasian Menopause Society" src="https://media.healthdirect.org.au/images/logos/h40/amslogo-9e3e88.png"> </a> <a href="https://pathologytestsexplained.org.au/ptests-pro.php?q=Oestradiol" data-partner-url="partners/pathology-tests-explained" class="main_content-search-tile" target="_blank" data-guid="ECM001|279a2a1c-5319-47fa-8f0a-22d9c7bc0e9c"> <h3>Oestradiol | Pathology Tests Explained</h3> <div class="main_content-search-tile-intro"> <p>Oestrogens are a group of hormones primarily responsible for the development of female sex organs and secondary sex characteristics. While oestrogens are the</p> </div> <p class="main_content-search-tile-read-more"><i aria-hidden="true" class="main_content-search-tile-read-more-icon"></i> Read more on Pathology Tests Explained website</p> <img class="main_content-search-tile-logo" alt="Pathology Tests Explained" src="https://media.healthdirect.org.au/images/logos/h40/ptex-vertical-orientation-colored-600x275px-01-0ae8ba.png"> </a> <a href="https://pathologytestsexplained.org.au/ptests-pro.php?q=Maternal+screening" data-partner-url="partners/pathology-tests-explained" class="main_content-search-tile" target="_blank" data-guid="ECM001|b6c230b4-1ae9-4386-a923-ac6b228639ca"> <h3>Maternal screening | Pathology Tests Explained</h3> <div class="main_content-search-tile-intro"> <p>The maternal serum screening tests involve the measurement of different pregnancy-associated hormones, which are found in all pregnancies. </p> </div> <p class="main_content-search-tile-read-more"><i aria-hidden="true" class="main_content-search-tile-read-more-icon"></i> Read more on Pathology Tests Explained website</p> <img class="main_content-search-tile-logo" alt="Pathology Tests Explained" src="https://media.healthdirect.org.au/images/logos/h40/ptex-vertical-orientation-colored-600x275px-01-0ae8ba.png"> </a> <a href="https://www.racgp.org.au/clinical-resources/clinical-guidelines/key-racgp-guidelines/view-all-racgp-guidelines/genomics-in-general-practice/genetic-tests-and-technologies/reproductive-carrier-screening" data-partner-url="partners/racgp-the-royal-australian-college-of-general-practitioners" class="main_content-search-tile" target="_blank" data-guid="ECM001|4bc55d1a-f669-4c59-aa93-f67ce0248255"> <h3>RACGP - Reproductive carrier screening</h3> <div class="main_content-search-tile-intro"> <p>Reproduced with permission from The Royal Australian College of General Practitioners</p> </div> <p class="main_content-search-tile-read-more"><i aria-hidden="true" class="main_content-search-tile-read-more-icon"></i> Read more on RACGP - The Royal Australian College of General Practitioners website</p> <img class="main_content-search-tile-logo" alt="RACGP - The Royal Australian College of General Practitioners" src="https://media.healthdirect.org.au/images/logos/h40/racgp_master_rgb-f5ccb3.png"> </a> <a href="https://www.ausmed.com/learn/articles/menopause" data-partner-url="partners/ausmed-education" class="main_content-search-tile" target="_blank" data-guid="ECM001|dfee0d08-bf6a-478a-903b-572e568b7c1e"> <h3>An Overview of Menopause | Ausmed</h3> <div class="main_content-search-tile-intro"> <p>Menopause marks the permanent end to a person’s menstrual cycle. It usually occurs between the ages of 45 and 55 (with an average age of 51). 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