{"id":406,"date":"2021-02-24T06:03:30","date_gmt":"2021-02-24T06:03:30","guid":{"rendered":"https:\/\/genes2me.com\/blog\/?p=406"},"modified":"2021-02-24T06:03:33","modified_gmt":"2021-02-24T06:03:33","slug":"turner-syndrome-awareness-month-february","status":"publish","type":"post","link":"https:\/\/genes2me.com\/blog\/2021\/02\/24\/turner-syndrome-awareness-month-february\/","title":{"rendered":"Turner Syndrome Awareness Month \u2013 February"},"content":{"rendered":"\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" width=\"1024\" height=\"686\" src=\"https:\/\/genes2me.com\/blog\/wp-content\/uploads\/2021\/02\/TURNER-SYNDROME-BLOG-01-1024x686.jpg\" alt=\"\" class=\"wp-image-407\" srcset=\"https:\/\/genes2me.com\/blog\/wp-content\/uploads\/2021\/02\/TURNER-SYNDROME-BLOG-01-1024x686.jpg 1024w, https:\/\/genes2me.com\/blog\/wp-content\/uploads\/2021\/02\/TURNER-SYNDROME-BLOG-01-300x201.jpg 300w, https:\/\/genes2me.com\/blog\/wp-content\/uploads\/2021\/02\/TURNER-SYNDROME-BLOG-01-768x515.jpg 768w, https:\/\/genes2me.com\/blog\/wp-content\/uploads\/2021\/02\/TURNER-SYNDROME-BLOG-01-769x515.jpg 769w, https:\/\/genes2me.com\/blog\/wp-content\/uploads\/2021\/02\/TURNER-SYNDROME-BLOG-01.jpg 1200w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption>Turner Syndrome Awareness Month &#8211; February<\/figcaption><\/figure>\n\n\n\n<h3><strong>TURNER SYNDROME<\/strong><\/h3>\n\n\n\n<p>February is celebrated as Turner syndrome awareness month.  Turner syndrome is also known as Monosomy X, Gonadal Dysgenesis and Bonnevie-Ullrich Syndrome.  It is one of the most common chromosomal abnormalities affecting females worldwide and results from partial or complete loss of chromosome X.  Symptoms can vary from person to person. It occurs in approximately 1 in 2500 live female births, though the frequency is more among pregnancy losses (miscarriages and stillbirth).<\/p>\n\n\n\n<p><strong>PRESENTATION<\/strong><\/p>\n\n\n\n<p>Presentation of this condition can be as early as during pregnancy. It can be screened prenatally by <strong><a href=\"https:\/\/genes2me.com\/blog\/index.php\/2020\/12\/29\/non-invasive-prenatal-testing-cost-in-india\/\">non-invasive prenatal testing<\/a><\/strong> (NIPT). It can also be detected prenatally on an ultrasound scan which may show<\/p>\n\n\n\n<ul><li>Large\nfluid collection behind the neck<\/li><li>Heart\ndefects<\/li><li>Abnormal\nkidneys<\/li><\/ul>\n\n\n\n<p>Many babies at birth look absolutely normal.\nOthers may show:<\/p>\n\n\n\n<ul><li>Neck\nwebbing (extra skin on the neck)<\/li><li>Low-set\nears<\/li><li>Low\nposterior hairline<\/li><li>Increased\ncarrying angles at the elbows (arms turned outwards at the elbows)<\/li><li>Small\nfinger and toe nails turned upwards<\/li><li>Short\nfourth metacarpals<\/li><li>Widely\nspaced nipples<\/li><li>Cardiac\nabnormalities like coarctation (narrowing) of the aorta<\/li><\/ul>\n\n\n\n<p> Main problems in almost all girls, teenagers and young women are <strong>short stature (height)<\/strong> &amp; <strong>failure of ovaries to develop<\/strong> properly.  <\/p>\n\n\n\n<h3><strong>IS TURNER SYNDROME INHERITED?<\/strong><\/h3>\n\n\n\n<p>One of the frequently asked questions about this condition is, \u201cIs it inherited?\u201d \u201cWill I pass this condition to my child?\u201d \u00a0It is usually NOT inherited in families. It\u2019s a result of random error during conceiving and no one has control over it. Usually a female has two X chromosomes, but in turner syndrome one of X chromosome can be either completely or partially lost. Another scenario which can happen is the affected female has few cells with both X chromosome and few cells have only one X chromosome. This phenomenon is called Mosaicism.<\/p>\n\n\n\n<h3><strong>DIAGNOSIS<\/strong><\/h3>\n\n\n\n<p>Though this condition is usually not inherited but the diagnosis is very crucial for the better development of the baby. Diagnosis can be made by chromosomal analysis. <strong>Karyotype<\/strong> might show following:<\/p>\n\n\n\n<ul><li>Monosomy X: 45,X (Most common\nfinding)<\/li><li>Mosaicism (e.g., 45,X\/46,XX) &#8211; Those\nwith normal cell line (46,XX) have a chance of being fertile<\/li><li>Isochromosome: 46,X,i(Xq)<\/li><li>Ring: 46,X,r(X)<\/li><li>Deletion: 46,X,del(Xp)<\/li><\/ul>\n\n\n\n<p><strong><a href=\"https:\/\/genes2me.com\/blog\/index.php\/2020\/01\/17\/what-is-clinical-exome-sequencing\/\">Exome Sequencing<\/a><\/strong> can also be offered which can detect genes like <\/p>\n\n\n\n<ul><li><em>SHOX <\/em>gene &#8211; believed to be a major contributor for\nshort stature. <\/li><li><em>TIMP3<\/em> &amp; <em>TIMP1 <\/em>genes -increase the\nrisk of cardiac abnormality like aortopathy.<\/li><\/ul>\n\n\n\n<p><em>UTX <\/em>&#8211; increases predisposition to chronic otitis media.<\/p>\n\n\n\n<h3><strong>TREATMENT<\/strong><\/h3>\n\n\n\n<p> For the treatment of this condition, regular health checkups are very important starting with consulting a pediatrician, cardiologist, endocrinologist and ENT specialist regularly. Girls with turner syndrome may have heart related problems such as heart murmur and narrowing of aorta which requires proper treatment. In many cases, continuous infection of middle ear (chronic otitis media) can be problematic. <strong>Growth hormone therapy<\/strong> can help to normalize height. For development of secondary sexual characteristics and prevention of osteoporosis in the future, <strong>estrogen replacement therapy (ERT)<\/strong> is recommended to be initiated at adolescence. Most females with Turner syndrome are infertile for which in vitro fertilization (IVF) using donor eggs can be a prospect.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" width=\"1024\" height=\"686\" src=\"https:\/\/genes2me.com\/blog\/wp-content\/uploads\/2021\/02\/TURNER-SYNDROME-BLOG-02-1024x686.jpg\" alt=\"\" class=\"wp-image-408\" srcset=\"https:\/\/genes2me.com\/blog\/wp-content\/uploads\/2021\/02\/TURNER-SYNDROME-BLOG-02-1024x686.jpg 1024w, https:\/\/genes2me.com\/blog\/wp-content\/uploads\/2021\/02\/TURNER-SYNDROME-BLOG-02-300x201.jpg 300w, https:\/\/genes2me.com\/blog\/wp-content\/uploads\/2021\/02\/TURNER-SYNDROME-BLOG-02-768x515.jpg 768w, https:\/\/genes2me.com\/blog\/wp-content\/uploads\/2021\/02\/TURNER-SYNDROME-BLOG-02-769x515.jpg 769w, https:\/\/genes2me.com\/blog\/wp-content\/uploads\/2021\/02\/TURNER-SYNDROME-BLOG-02.jpg 1200w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption>Early Detection of Turner Syndrome<\/figcaption><\/figure>\n\n\n\n<h3><strong>Early Detection of TURNER SYNDROME with GENES2ME<\/strong><\/h3>\n\n\n\n<p> Lack of awareness about the condition is one of the reason that many cases of turner syndrome can go undiagnosed and the affected person don\u2019t realize until complications related to heart, infertility begin to appear. Turner syndrome can be detected early during pregnancy with various testing options such as <strong><a href=\"https:\/\/www.genes2me.com\/service\/mother-and-child-care\/nips-nipt\/non-invasive-prenatal-test\">Non-Invasive Prenatal Testing<\/a><\/strong> (NIPT) which is an early screening test for all pregnant women. Other test includes identification of TS by Karyotyping, Fluorescent In-situ Hybridization (FISH), Quantitative Fluorescence-Polymerase Chain Reaction (QF-PCR), Chromosomal Microarray (CMA) and Sequencing test option which includes <strong><a href=\"https:\/\/www.genes2me.com\/service\/diagnostics\/exome-sequencing\/exome-sequencing\">Exome Sequencing<\/a><\/strong>. Genes2Me offers these tests according to the requirement and different stages of pregnancy. We believe in Early Diagnosis, Health Babies!<\/p>\n","protected":false},"excerpt":{"rendered":"<p>TURNER SYNDROME February is celebrated as Turner syndrome awareness month. Turner syndrome is also known as Monosomy X, Gonadal Dysgenesis and Bonnevie-Ullrich Syndrome. It is&hellip;<\/p>\n","protected":false},"author":1,"featured_media":408,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[122,5,6,9],"tags":[115,121,120,119,66,68,116,117,118],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v19.4 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Genes2Me - February Turner Syndrome Awareness Month | Monosomy-X<\/title>\n<meta name=\"description\" content=\"Turner Syndrome is one of the most common chromosomal abnormalities affecting females worldwide and results from partial or complete loss of chromosome X.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/genes2me.com\/blog\/2021\/02\/24\/turner-syndrome-awareness-month-february\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genes2Me - 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