How Turner Syndrome is Detected
There are various stages by which Turners Syndrome can be detected as there are also multiple ways in which Turner Syndrome can be diagnosed or tested for. These characteristics can detected at various stages in the child's/woman's life such as;
- Turner syndrome can be diagnosed before birth, also known as Prenatally. This birth defect can be detected through an ultrasound. This birth defect can also be detected at a later stage as in early childhood or even early adulthood through the recognition of physical traits the defect is associated with.
- Another option is an Amniocentesis which is taking a sample of the fetus' cells [Figure 1.1]. This method can only be undertaking within the 15th week of pregnancy at the earliest. [1]
- It can also be detected through Chorionic Villus Sampling. Which is taking a sample of the placenta's tissue (whilst the baby is in the womb). This method is most popular as it can detect a defect in the baby as early as up to the 10th week of pregnancy. This is a huge advantage for early detection.
Detecting Cardiovascular Abnormalities
An Echocardiogram is what is used to help determine whether the unborn baby suffers and cardiovascular abnormalities, as Turner syndrome is commonly linked and associated with cardiovascular problems. An investigation was conducted aimed to inform that Echocardiogram scans were impractical and difficult to visualise the abnormalities of the heart thus testing whether using cardiac MRI (magnetic resonance imaging) scans were predominately more beneficial for identifying these abnormalities of the cardiovascular system. This was conducted by AJR in the department of radiology at Cincinnati Children's Hospital Medical Centre. This investigation took 51 patients with Turner syndrome, at a variety of ages and found that the outcome of using Cardiac MRI scanning was beneficial for persons with Turner Syndrome [2]. Thus concluding that the most effective method for determining any cardio vascular abnormalities will be produced through using a cardiac MRI scan.
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The above image gives a general gist of what a cardiac MRI scan of the human heart looks like.
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The Importance of Early Detection
Sarah's story is one of the many inspirational stories that helps convey how important early detection is for treatment. This video shows how crucial early detection and treatment for Turner Syndrome is; early treatment can essentially mask the majority of the physical features that are commonly associated with the syndrome. These can include height, breast development and Hashimoto's disease which can be treated for through the use of various treatment methods including; oestrogen patches, medication and injections.
The earlier we treat children with Turner Syndrome, the better the outcome, the longer we treat and the more aggressive we treat, the better the outcome - Dr Henry Anhalt |
Avaliable Treatments
Hormone supplements are a very proficient way of balancing out the physical developmental traits (phenotypes) Turner syndrome has on an individual.
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Oestrogen patches are one of the most popular and efficient ways by which oestrogen can be obtained [Figure 1.2], as well as some alternatives including; tablets and gel. Oestrogen patches can have effective result from as little as 2 years stretching through to a maximum of 5! This method is quick and effective however, these methods do have their own risky side effects.
Risks The main risks associated with these hormone replacements are blood clots, strokes, cardiovascular disease, breast cancer and gallbladder disease. The risk of breast cancer is significantly increased when these hormone replacements have been issued for as little as 5 years. Hormone replacement methods also increase the risk of having a stroke as well as blood clots and cholecystitis (inflammation of the gallbladder). [3] Hormone injections are hormonal injections that contain Oestrogen, these injections are given daily, at home by both parent; when the child is incapable of preforming the task themselves and child [4]. With the advancing new technology there have also been newly made devices [Figure 1.3] that have an automatic needle that inserts the injection. This make the injection process a lot easier and manageable. One of these devices available for purchase is called a Nordiflex [5], which has the main basic components as Figure 1.3. Progesterone is also given to girls shortly after Oestrogen has been distributed. This hormone is essential and is required in the process of menstruating as well as the early stages of pregnancy [6]. The presence of this hormone in turner girls helps encourage the body to start regular periods [7]. These injections are then commonly continually used throughout life [8]. |
Reference List
[1] BabyCenter Australia Medical Advisory Board. (2008). Chorionic Villus Sampling (CVS). Available: http://www.babycenter.com.au/a328/chorionic-villus-sampling-cvs. Last accessed 13th August 2014
[2] Am J Roentgenol. (2011). Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population.. AJR. 2 (-), 454-460. <Accesses at: http://www.ncbi.nlm.nih.gov/pubmed/21257900>
[3] My Dr for a Healthy Australia. (2001). Hormone replacement therapy.Available: http://www.mydr.com.au/womens-health/hormone-replacement-therapy. Last accessed 14 August 2014.
[4] Novo Nordisk. (2014). Turner syndrome. Available: http://www.novonordisk.com/therapy_areas/growth_hormone/public/growth_disorders/turner_syndrome.asp. Last accessed 9th August 2014.
[5] Novo Nordisk. (2014). Nordiflex. Available: http://www.novonordisk.com/therapy_areas/growth_hormone/public/injection-pens/nordiflex/product-information.asp
[6] Society for Endocrinology. (2013). Progesterone. Available: http://www.yourhormones.info/hormones/progesterone.aspx. Last accessed 11th August 2014
[7] NHS Choices. (2013). Treating Turner syndrome. Available: http://www.nhs.uk/Conditions/Turners-syndrome/Pages/Treatment.aspx. Last accessed 13th August 2014
[8] Patient.co.uk. ([Unknown Publish Date]). Understanding genes.Available: http://www.patient.co.uk/health/turner's-syndrome-leaflet. Last accessed 13th August 2014
[2] Am J Roentgenol. (2011). Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population.. AJR. 2 (-), 454-460. <Accesses at: http://www.ncbi.nlm.nih.gov/pubmed/21257900>
[3] My Dr for a Healthy Australia. (2001). Hormone replacement therapy.Available: http://www.mydr.com.au/womens-health/hormone-replacement-therapy. Last accessed 14 August 2014.
[4] Novo Nordisk. (2014). Turner syndrome. Available: http://www.novonordisk.com/therapy_areas/growth_hormone/public/growth_disorders/turner_syndrome.asp. Last accessed 9th August 2014.
[5] Novo Nordisk. (2014). Nordiflex. Available: http://www.novonordisk.com/therapy_areas/growth_hormone/public/injection-pens/nordiflex/product-information.asp
[6] Society for Endocrinology. (2013). Progesterone. Available: http://www.yourhormones.info/hormones/progesterone.aspx. Last accessed 11th August 2014
[7] NHS Choices. (2013). Treating Turner syndrome. Available: http://www.nhs.uk/Conditions/Turners-syndrome/Pages/Treatment.aspx. Last accessed 13th August 2014
[8] Patient.co.uk. ([Unknown Publish Date]). Understanding genes.Available: http://www.patient.co.uk/health/turner's-syndrome-leaflet. Last accessed 13th August 2014