{"id":15294,"date":"2025-05-07T17:01:05","date_gmt":"2025-05-07T17:01:05","guid":{"rendered":"https:\/\/introlab.net\/%d1%81%d0%b8%d0%bd%d0%b4%d1%80%d0%be%d0%bc-%d1%82%d0%b5%d1%80%d0%bd%d0%b5%d1%80%d0%b0\/"},"modified":"2025-05-07T18:15:35","modified_gmt":"2025-05-07T18:15:35","slug":"turner-syndrome-how-to-recognize-it-and-why-early-diagnosis-matters","status":"publish","type":"post","link":"https:\/\/staging-introlab.dev-digitaldot.com\/en\/turner-syndrome-how-to-recognize-it-and-why-early-diagnosis-matters\/","title":{"rendered":"Turner syndrome \u2013 How to recognize it and why early diagnosis matters"},"content":{"rendered":"<p>Turner syndrome is a <strong>genetic condition that affects only females<\/strong> and occurs when all or part of one X chromosome is missing. Although rare, it can significantly impact <strong>growth, development, and fertility &#8211; <\/strong>especially if not identified early. In this article, we explain what life with Turner syndrome looks like, which symptoms are most common, and how laboratory diagnostics enable early and accurate detection of the condition.<!--more--><\/p>\n<h2>Symptoms and signs of Turner syndrome<\/h2>\n<p>The symptoms <strong>vary depending on the individual\u2019s age and the specific chromosomal change.<\/strong> Some signs may be noticeable at birth, while others don\u2019t become apparent until puberty or even later.<\/p>\n<p><strong>Common symptoms in infants and young children:<\/strong><\/p>\n<ul>\n<li>Swelling of the hands and feet at birth<\/li>\n<li>Short neck or extra folds of skin on the neck<\/li>\n<li>Short height for age<\/li>\n<li>Widely spaced nipples<\/li>\n<li>Low-set or uniquely shaped ears<\/li>\n<\/ul>\n<p><strong>Symptoms that may appear during puberty:<\/strong><\/p>\n<ul>\n<li>Absence of menstruation (primary amenorrhea)<\/li>\n<li>Underdeveloped breasts<\/li>\n<li>Delayed or incomplete puberty<\/li>\n<li>Infertility due to underdeveloped ovaries<\/li>\n<\/ul>\n<p><strong>Possible related health issues:<\/strong><\/p>\n<ul>\n<li>Congenital heart defects and <a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/4-symptoms-of-high-blood-pressure\/\">high blood pressure<\/a><\/li>\n<li>Thyroid problems<\/li>\n<li>Learning difficulties, especially in math and spatial reasoning<\/li>\n<li>Hearing loss<\/li>\n<\/ul>\n<p><em>Not every girl with Turner will experience the same symptoms.<\/em> If there is any concern, it\u2019s important to get <a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/genetic-tests\/\">genetic testing<\/a> and follow-up evaluations as early as possible.<\/p>\n<figure id=\"attachment_15279\" aria-describedby=\"caption-attachment-15279\" style=\"width: 770px\" class=\"wp-caption aligncenter\"><img decoding=\"async\" class=\"wp-image-15279 size-full\" src=\"https:\/\/staging-introlab.dev-digitaldot.com\/wp-content\/uploads\/2025\/05\/pexels-mikhail-2.jpg\" alt=\"mother and daughter \" width=\"770\" height=\"350\" srcset=\"https:\/\/staging-introlab.dev-digitaldot.com\/wp-content\/uploads\/2025\/05\/pexels-mikhail-2.jpg 770w, https:\/\/staging-introlab.dev-digitaldot.com\/wp-content\/uploads\/2025\/05\/pexels-mikhail-2-300x136.jpg 300w, https:\/\/staging-introlab.dev-digitaldot.com\/wp-content\/uploads\/2025\/05\/pexels-mikhail-2-768x349.jpg 768w\" sizes=\"(max-width: 770px) 100vw, 770px\" \/><figcaption id=\"caption-attachment-15279\" class=\"wp-caption-text\">Girls with Turner syndrome may have subtle physical differences.<\/figcaption><\/figure>\n<h2>How Turner syndrome is diagnosed<\/h2>\n<p>This syndrome is most reliably <strong>confirmed through genetic testing that identifies changes or missing parts of the X chromosome.<\/strong> While doctors may suspect the condition based on physical features or symptoms, a definitive diagnosis can only be made through laboratory chromosome analysis.<\/p>\n<h3>Prenatal testing \u2013 NGS analysis from the mother\u2019s blood<\/h3>\n<p>If suspected during pregnancy &#8211; based on ultrasound findings, biochemical screening, or family history &#8211;<strong> non-invasive prenatal testing (NIPT) using a blood sample from the mother is recommended.<\/strong><\/p>\n<p><em>These <a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/ngs\/\">tests use NGS (Next Generation Sequencing) technology<\/a> to detect abnormalities in the sex chromosomes,<\/em> including missing or altered X chromosomes that may indicate Turner syndrome.<\/p>\n<p><a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/\">IntroLab<\/a> offers a range of NGS panels:<\/p>\n<ul>\n<li><a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/ngs\/prenatal-test-plus\/\">PLUS Test<\/a><\/li>\n<li><a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/ngs\/prenatal-test-expert\/\">EXPERT Test<\/a><\/li>\n<li><a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/ngs\/prenatal-test-premium\/\">PREMIUM Test<\/a><\/li>\n<li><a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/ngs\/prenatal-test-all-chromosomes\/\">ALL CHROMOSOMES Test<\/a><\/li>\n<li><a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/ngs\/prenatal-test-special\/\">SPECIJAL Test<\/a><\/li>\n<li><a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/ngs\/prenatal-test-special-sma\/\">SPECIJAL + SMA Test<\/a><\/li>\n<li><a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/ngs\/prenatal-test-next-karyo-plus\/\">Next Kario Plus Test<\/a><\/li>\n<li><a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/ngs\/prenatal-test-next-karyo-full\/\">Next Kario Full Test<\/a><\/li>\n<\/ul>\n<h3>Postnatal testing \u2013 Karyotype and molecular karyotype<\/h3>\n<p>If suspected after birth\u2014due to physical features, slow growth, delayed puberty, or infertility\u2014the following laboratory methods are typically used:<\/p>\n<ul>\n<li><strong><a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/karyotype-test-from-peripheral-blood\/\">Peripheral blood karyotype<\/a>:<\/strong> A basic test that determines the number and structure of chromosomes. It provides a visual representation of the X chromosome and is often the first step when Turner syndrome is suspected.<\/li>\n<li><strong><a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/ngs\/molecular-karyotype\/\">Molecular karyotype (Array CGH)<\/a>:<\/strong> A more advanced method that can detect microdeletions and microduplications\u2014genetic changes that may not be visible with a standard karyotype. This analysis is especially useful in complex cases or when mosaicism is suspected.<\/li>\n<\/ul>\n<figure id=\"attachment_15282\" aria-describedby=\"caption-attachment-15282\" style=\"width: 770px\" class=\"wp-caption aligncenter\"><img decoding=\"async\" class=\"wp-image-15282 size-full\" src=\"https:\/\/staging-introlab.dev-digitaldot.com\/wp-content\/uploads\/2025\/05\/pexels-cristian-1.jpg\" alt=\"A blood test can confirm Turner syndrome\" width=\"770\" height=\"350\" srcset=\"https:\/\/staging-introlab.dev-digitaldot.com\/wp-content\/uploads\/2025\/05\/pexels-cristian-1.jpg 770w, https:\/\/staging-introlab.dev-digitaldot.com\/wp-content\/uploads\/2025\/05\/pexels-cristian-1-300x136.jpg 300w, https:\/\/staging-introlab.dev-digitaldot.com\/wp-content\/uploads\/2025\/05\/pexels-cristian-1-768x349.jpg 768w\" sizes=\"(max-width: 770px) 100vw, 770px\" \/><figcaption id=\"caption-attachment-15282\" class=\"wp-caption-text\">Early diagnosis is possible thanks to advanced prenatal and postnatal testing.<\/figcaption><\/figure>\n<h2>Turner Syndrome \u2013 Cause<\/h2>\n<p>Turner syndrome occurs <em>when one of the two X chromosomes is completely or partially missing in a person assigned female at birth.<\/em> Instead of the typical 46,XX chromosome pattern, <strong>individuals with this syndrome usually have 45 chromosomes<\/strong>, most commonly noted as 45,X.<\/p>\n<p>In some cases, a mix of normal and abnormal cells is present\u2014a condition known as <strong>mosaicism.<\/strong> This form often results in milder symptoms and may go undetected until later in life.<\/p>\n<p>The condition is caused by a <em>random genetic change that usually occurs during early embryonic development.<\/em> It is not inherited and cannot be prevented, but it can be detected through <a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/prenatal-tests-everything-you-need-to-know\/\">early prenatal testing<\/a>.<\/p>\n<h2>Turner syndrome and pregnancy<\/h2>\n<p>One of the most common consequences of Turner syndrome is <strong>infertility, due to underdeveloped or non-functioning ovaries.<\/strong> However, with advancements in reproductive medicine, women with Turner syndrome may still have the opportunity to become mothers\u2014most often with the help of:<\/p>\n<ul>\n<li>Egg donation<\/li>\n<li>Hormonal therapy and uterine preparation<\/li>\n<li>Close monitoring in highly specialized medical centers<\/li>\n<\/ul>\n<p>It\u2019s important to note that <em>pregnancy carries a high risk for the heart and blood vessels.<\/em> A comprehensive cardiac evaluation is required before attempting pregnancy. The decision to pursue pregnancy should involve a coordinated team of specialists, including an <strong>endocrinologist, cardiologist, gynecologist, and genetic counselor.<\/strong><\/p>\n<figure id=\"attachment_15276\" aria-describedby=\"caption-attachment-15276\" style=\"width: 770px\" class=\"wp-caption aligncenter\"><img decoding=\"async\" class=\"wp-image-15276 size-full\" src=\"https:\/\/staging-introlab.dev-digitaldot.com\/wp-content\/uploads\/2025\/05\/pexels-jonas-1.jpg\" alt=\"a pregnant lady \" width=\"770\" height=\"350\" srcset=\"https:\/\/staging-introlab.dev-digitaldot.com\/wp-content\/uploads\/2025\/05\/pexels-jonas-1.jpg 770w, https:\/\/staging-introlab.dev-digitaldot.com\/wp-content\/uploads\/2025\/05\/pexels-jonas-1-300x136.jpg 300w, https:\/\/staging-introlab.dev-digitaldot.com\/wp-content\/uploads\/2025\/05\/pexels-jonas-1-768x349.jpg 768w\" sizes=\"(max-width: 770px) 100vw, 770px\" \/><figcaption id=\"caption-attachment-15276\" class=\"wp-caption-text\">Turner syndrome doesn\u2019t rule out motherhood &#8211; but it does require special medical care.<\/figcaption><\/figure>\n<h2>How is Turner syndrome treated?<\/h2>\n<p>Turner syndrome <strong>cannot be cured because it is a genetic condition<\/strong>, but symptoms can be effectively managed through a multidisciplinary approach that includes:<\/p>\n<ul>\n<li><strong>Hormone therapy:<\/strong> <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/15035650\/\" target=\"_blank\" rel=\"noopener\">Growth hormone treatment during childhood<\/a> can help achieve a more typical height. Estrogen therapy is later introduced to initiate puberty and support sexual development.<\/li>\n<li><strong>Gynecological and endocrinological care:<\/strong> For adults with infertility, assisted reproductive technologies\u2014usually involving egg donation\u2014may be an option.<\/li>\n<li><strong>Monitoring of the heart, kidneys, and thyroid:<\/strong> Regular checkups with a cardiologist, nephrologist, and endocrinologist are essential to detect and prevent complications.<\/li>\n<li><strong>Psychological and educational support:<\/strong> Individualized learning strategies and emotional support can improve quality of life, especially during adolescence.<\/li>\n<\/ul>\n<p><em>Treatment is long-term and tailored to each individual<\/em> based on the severity of symptoms and overall health status.<\/p>\n<h2>Frequently asked questions<\/h2>\n<p><strong>Is Turner syndrome inherited?<\/strong><\/p>\n<p>No. Turner syndrome is not inherited. It results from a random error during cell division, usually at the time of conception, and is not passed down from parents to children.<\/p>\n<p><strong>Can Turner syndrome be detected during pregnancy?<\/strong><\/p>\n<p>Yes. It can be detected during pregnancy through non-invasive prenatal testing (NIPT), which analyzes fetal DNA from the mother&#8217;s blood to identify changes in the sex chromosomes.<\/p>\n<p><strong>Can women with Turner syndrome have children?<\/strong><\/p>\n<p>Most women are unable to conceive naturally due to non-functioning ovaries. However, with medical support\u2014such as egg donation and hormone therapy\u2014pregnancy may be possible under close medical supervision.<\/p>\n<p><strong>What is the life expectancy for someone with Turner syndrome?<\/strong><\/p>\n<p>Individuals generally have a life expectancy close to average, especially when health complications\u2014such as heart problems\u2014are identified and managed early.<\/p>\n<p><strong>What are the early signs of Turner syndrome?<\/strong><\/p>\n<p>Early signs may include swelling of the hands and feet at birth, a short neck, short stature, delayed or absent puberty, and infertility later in life.<\/p>\n<h2>Recognize Turner syndrome early<\/h2>\n<p>Turner syndrome can go undetected for years, but with timely diagnosis and the right medical testing, it\u2019s possible to provide strong support and improve health outcomes. <strong>At IntroLab, advanced genetic testing is available<\/strong>\u2014from non-invasive prenatal NGS screening to detailed karyotyping\u2014allowing for accurate detection at any stage of life. If there&#8217;s a concern about Turner syndrome, don\u2019t wait\u2014<strong><a href=\"https:\/\/staging-introlab.dev-digitaldot.com\/en\/contact\/\">schedule your genetic testing with IntroLab<\/a> today and get the answers that can make all the difference.<\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Turner syndrome is a genetic condition that affects only females and occurs when all or part of one X chromosome is missing. Although rare, it can significantly impact growth, development, and fertility &#8211; especially if not identified early. In this article, we explain what life with Turner syndrome looks like, which symptoms are most common, [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":15286,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[159],"tags":[],"class_list":["post-15294","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Turner syndrome \u2013 How to recognize it and why early diagnosis matters | IntroLab Belgrade<\/title>\n<meta name=\"description\" content=\"Turner syndrome affects growth and fertility. 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