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Turner

Syndrome

Introduction

Turner Syndrome is a condition that affects chromosomes. It affects female development. Turner Syndrome is also known as monosomy x, TS, Ullrich-Turner Syndrome and 45,X (Genetics). Bonnevie-Ullrich Syndrome is also another name for turner syndrome (Bondy).

mode of inheritance

Mode of

Inheritance

The human body has 46 chromosomes; 23 pairs. 2 are the sex chromosomes. Female sex chromosomes; XX. Male sex chromosomes; XY (Cunha). Turner syndrome occurs when females have one X chromosome but are lacking the other sex chromosome. With one chromosome missing, development will be affected (Genetics). The 23rd pair is missing the one X chromosome (Bondy). Turner syndrome can be caused because of the following genetic alterations: Monosomy, Mosaicism, X Chromosome Abnormalities and Y chromosome material (Staff).

Genetic Alterations

Monosomy: sperm from male or egg from female have an error happen which causes one X chromosome to be missing

Mosaicism: during fetal development, cell division has an error where 2 X chromosomes are present and 1 X chromosome is present in other cells

X Chromosome Abnormalities: when a X chromosome has a part missing or is abnormal. A complete and changed cell is present. Happens because of an error with the sperm or egg, or cell division in the fetals early development stage

Y Chromosome Material: this happens in a small amount of people with turner syndrome. 1 X chromosome will be in some cells. 1 X chromosome and partial Y chromosome will be in some cells. Biologically, you will evolve as a female but you have a higher change of getting a cancer called gonadoblastoma

(Staff)

clinical description

of the disorder

Clinical description of

the

disorder

People with turner syndrome are short and can lose function of their ovaries. In the beginning, ovaries develop, but before birth oocytes die and tissue degenerates. There is a small chance that some females will have function of their ovaries in young adult years. The majority are infertile. People with turner syndrome have normal intelligence but development issues or behaviour problems can vary (Genetics). Turner syndrome can cause scoliosis, osteoporosis, obesity, diabetes and celiac disease (Rehan).

more info

If you have turner syndrome you could have issues understanding nonverbal communication such as body language or facial expression and issues with visual memory. You can also have troubles with math. This happens to about 2% of people diagnosed with turner syndrome. They have a chance of developing an aortic dissection which is a tear to the aorta on the inside wall. This is a main artery because its role is to transport blood to the heart. If damaged can affect blood flow in the aorta, which can lead to an aneurysm. Aneurysms could be life threatening if they rupture (Eunice).

Treatment

Medical care is something that is needed regularly. Regular medical care can help you live a healthy life. There are a couple different treatment options for turner syndrome; growth hormones and estrogen therapy (Staff). Hormonal therapy is the only way for someone to experience puberty (Genetics).

Growth Hormone

Growth Hormone

A recombinant growth hormone can be given daily. This helps to increase height. Height and bone growth can be improved and strengthened if treatment is started early enough. Oxandrolone can be given to a girl if they have a short stature. Oxandrolone increases protein production and strengthens bone mineral density. Height can be increased because of this (Staff).

Estrogen therapy

Estrogen therapy

Estrogen therapy helps girls start puberty. This is usually started when is a girl is 11-12. People receive estrogen therapy through your life until you hit menopause. This therapy improves the volume of the uterus and breast development. If taken with a growth hormone, it can improve bone mineralization and possibly height (Staff).

detection

Prenatal diagnosis are increasing (Bondy). Before the child is born, to test for turner syndrome, the following procedures can be done: chorionic villus sampling and amniocentesis (Staff).

Chorionic villus sampling & amniocentesis

chorionic villus sampling & amniocentesis

Chorionic Villus Sampling: A small piece of tissue can be taken from the placenta. In the tissue there are cells and those can be tested at the genetics laboratory for chromosome studies. This can determine if the baby has turner syndrome (Staff).

Amniocentesis: The uterus has amniotic fluid. A sample can be removed to test for tuner syndrome. Cells from the baby are shed into this liquid so this allows it to be tested. This can be done at a genetic laboratory (Staff).

karyotype

karyotype

A blood test, called a karyotype creates a picture of an individual's chromosomes. Doing this allows doctors to look at the chromosomes and determine if you have a missing or a partial missing chromosome (Rehan). This can be done during pregnancy or after the baby is born (Staff).

Figure 1: A karytope for a person with turner syndrome

Source: JadeHomeTeam

symptoms

karyotype

Turner syndrome is usually diagnosed in early childhood if a webbed neck, broad chest, wide spread nipples or not growing at a proper speed is happening. It can also be diagnosed when born if the child has heart problems, hands & feet are swollen and neck is abnormally wide. SHOX gene helps bones develop and grow; if missing this gene, you show signs of turner syndrome (Cunha).

more info

Symptoms can develop slowly; be significant and subtle.

Before birth: can detect these symptoms with the mother’s blood which is used in prenatal cell-free DNA screening or a prenatal ultrasound. Symptoms include abnormal kidneys, heart abnormalities or fluid collections that are abnormal and can be found on the base of the neck

Infant years: some symptoms include low-set ears, short fingers & toes and arms turn outward at the elbows

Childhood, Teens, Adults: slowed growth which also includes no growth spurts, not undergoing puberty, menstrual cycles stop; not because of pregnancy, infertile

(Staff).

social & ethical

implications of

genetic screening & testing

social & ethical implications of genetic screening & testing

The genetic screening and testing for turner syndrome has social & ethical implications. If you're pregnant and get genetic testing done and find out that your baby has turner syndrome, couples decide if they want to keep the baby or get an abortion. This can affect people because when you get pregnant it is exciting news, and when you find out that your child has turner syndrome, it effects people. You have to decide if you are prepared to care for the child (McLean).

more info

Many people want to preserve lives, meaning they want to keep lives and not do anything to harm them. But, because of genetic testing and no cures for all the genetic diseases, people will continue to get abortions. A baby's condition might be minor or severe but parents still wish to get an abortion. Some people feel that if the baby has a more serious disorder/abnormality then they should be allowed to get an abortion. With the decisions that people make, we need to decide which will benefit the society best (McLean). If a families decides to get an abortion every time they find out their child will have a disorder, what does that say about us as humans? All lives should be treated equally. Obviously that is easier said than done, we just need to put in the effort.

works cited

Bondy, Carolyn A, and Melissa L Crenshaw. NORD National Organization For Rare rrrr Disorders, 2019, rarediseases.org/rare-diseases/turner-syndrome/. Accessed 29 rrrr Apr. 2019

Cunha, John P. MedicineNet, MedicineNet Inc, www.medicinenet.com/

rrrr turner_syndrome/article.htm. Accessed 28 Apr. 2019.

Eunice Kennedy Shriver National Institute of Child Health and Human Development,

rrrr Genetics Home Reference, 16 Apr. 2019, ghr.nlm.nih.gov/condition/turner-

rrrr syndrome#synonyms. Accessed 23 Apr. 2019

HealthJadeTeam. Health Jade Team, healthjade.com/turner-syndrome/. Accessed 2 rrrr May 2019

McLean, Sara. Prenatal Diagnostic Tests and the Social, Legal, and Ethical

rrrr Implications, 1997, www.ndsu.edu/pubweb/~mcclean/plsc431/students/

rrrr mclean.html. Accessed 1 May 2019.

Rehan, Kelly M. endocrineweb, verticalhealth, www.endocrineweb.com/conditions/

rrrr turner-syndrome/turner-syndrome-complications. Accessed 29 Apr. 2019.

Rehan, Kelly M. endocrineweb, verticalhealth, www.endocrineweb.com/conditions/

rrrr turner-syndrome/turner-syndrome-diagnosis. Accessed 29 Apr. 2019.

Staff, MayoClinic. Mayo Clinic, MFMER, www.mayoclinic.org/diseases-conditions/

rrrr turner-syndrome/symptoms-causes/syc-20360782. Accessed 28 Apr. 2019.

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