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Turner syndrome
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Turner Syndrome
Avery Botter
What is it?
What is Turner Syndrome?
What is it?
Definition of Turner's Syndrome
Definition
Turner syndrome is defined as a chromosomal disease caused by the missing or partially missing of one of the X chromosomes in females.
https://multimedia.elsevier.es/PublicationsMultimediaV1/item/multimedia/S1665579616300503:gr1.jpeg?xkr=ue/ImdikoIMrsJoerZ+w997EogCnBdOOD93cPFbanNfyDJ8Ru8hCz4cufi6EOoVuH+g9/Rhd6YTAHulOy6LMQys5biUy2/6BJUsOx0HcQywembqwXDJ6iWTmgw9UIhhOwzAJwwA3v74V9BOakkIA38NKZbFlA/g4zMpz1UFwf8AJBNiT1eAhpyYq338KpCRaTPRizsZXJHg1fpvXLLBZipV7xMh5lFE67q0tAH/csADE5pXVM2nMlgZDo2egMPkLTr1UcZlswQyCAyNc7QS8srtqJa0Z9wA5uGmUzN4kH7g=
DNA Mutations
- Missing X chromosome
- Missing SHOX gene
- TIMP1 and TIMP3 missing
- Missing UTX gene
- Normal autosomal karyotype
https://medlineplus.gov/images/PX0000QG_PRESENTATION.jpeg
Proteins Affected
- SHOX Proteins
- Regulates other genes in the body
- Deficiency causes short stature
- TIMP1 and TIMP3 Proteins
- Promotes cell multiplication; prevents cell death
- Deficiency can lead to aortic valve issues
- UTX Proteins
- Creates immune system antibodies
Symptoms, Indidence, and Inheritance
Symptoms,
Inheritance, and Incidence
Topics related to development of the disease and it's reaction on the body
Symptoms of Turner's Syndrome
Symptoms
- Webbing of neck
- Short stature
- Cardiac and immune issues
- Infertility
- Incapable of commencing puberty naturally
- Estrogen deficiency
- Visual-Spatial problems
https://nurseslabs.com/turner-syndrome/
Incidence and Frequency
Incidence
https://www.researchgate.net/profile/Claus-Gravholt/publication/233885294/figure/fig1/AS:669429755023367@1536615899923/Progression-of-Turner-girls-rate-of-growth.png
- 1 in 2000 females born have Turner's syndrome
- 70,000 females in the U.S. have Turner's syndrome
- No racial or ethnic factors
.
Is The Disorder Inherited? If Not How Does Is Occur?
Inheritance
Turner's syndrome is not hereditary. People who are diagnosed with Turner's syndrome are typically infertile, and the mutation is not germ-line. Turner's syndrome is caused by non-disjunction, a problem occurring during the crossover between particular chromosomes in meta-phase.
https://www.genome.gov/sites/default/files/media/images/tg/Crossing-over_dyn.jpg
Diagnosis, Treatment, and Discovery
The process of determining if the patient has Turner syndrome and treating it as well as a little history.
Diagnosis, Treatment, and discovery
Diagnosis of Turner Syndrome
Diagnosis
https://www.mayoclinic.org/tests-procedures/amniocentesis/about/pac-20392914
Diagnosis of Turner syndrome generally comes shortly after birth. However mild cases of Turner syndrome can go undiagnosed until well into adulthood. The Diagnosis can be made prenatally via amniocentesis. Diagnosis after birth usually involves a cheek swab to test for Barr bodies, and a blood sample to analyze the chromosomes.
https://www.verywellhealth.com/which-blood-tests-do-rheumatologists-order-189181
Treatment of Turner's Syndrome
Treatment
https://www.goodhormonehealth.com/2018/12/28/2797/
- Human growth hormone therapy
- Estrogen replacement
- Supportive therapies
- Heart valve replacement
- Vision aids
Discovery of Turner Syndrome
Discovery
Turner syndrome was discovered by Henry Turner. In 1938 Henry Turner recorded Turner syndrome into medical literature, thus being the first person to discover the disease. However, It wasn't discovered that non-disjunction of the X chromosome was the cause of Turner syndrome until 1959.
https://wp02-media.cdn.ihealthspot.com/wp-content/uploads/sites/438/2020/02/28183202/iStock-869729064.jpg
Support and Awareness
Supporting and spreading awareness about Turner syndrome and some fun facts as well
Support and awareness
Support and Awareness of Turner syndrome
Support and Awareness
Support and awareness of Turner syndrome can be found at https://turnersyndromefoundation.org. February is Turner Syndrome awareness month, where organizations spend the month educating people about Turner syndrome. Education is key to understanding.
https://i0.wp.com/turnersyndromefoundation.org/wp-content/uploads/2022/01/Awareness-Month-Posts.png?fit=1080%2C1080&ssl=1
Interesting facts about Turner syndrome
Interesting facts
- Most people with Turner syndrome have normal intelligence
- Can conceive with egg donors and fertility treatments
- Average height is 4'8"
- Critical/life-threatening issues are rare
- Commonly called Turner's Syndrome incorrectly
Summary and Bibliography
Summary and Bibliography
Summary of Turner syndrome and the sources of the information written in this presentation.
Summary
Turner syndrome is a condition caused by non-disjunction of the X chromosome. Symptoms may vary but are generally organ issues and webbed necking. Discovered by Henry Turner, Turner's syndrome occurs relitivly often. People with Turner's syndrome can often live normal lives.
Bibliography and sources
Bibliography
Binder, Gerhard. “Short Stature Due to SHOX Deficiency: Genotype, Phenotype, and Therapy.” Hormone Research in Paediatrics, Karger Publishers, 4 Feb. 2011, https://www.karger.com/Article/Fulltext/324105.
“Home.” Turner Syndrome Foundation, 4 June 2020, https://turnersyndromefoundation.org/.
“Turner Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 11 Feb. 2022, https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782.
“Turner Syndrome.” NORD (National Organization for Rare Disorders), 1 Mar. 2019, https://rarediseases.org/rare-diseases/turner-syndrome/.
“Turner Syndrome: Medlineplus Genetics.” MedlinePlus, U.S. National Library of Medicine, https://medlineplus.gov/genetics/condition/turner-syndrome/#:~:text=Some%20women%20with%20Turner%20syndrome,to%20have%20mosaic%20Turner%20syndrome.