User:Mr. Ibrahem/Turner syndrome

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Turner syndrome
Other namesUllrich–Turner syndrome; Bonnevie–Ullrich–Turner syndrome; gonadal dysgenesis; 45X; 45X0
Girl with Turner syndrome before and after an operation for neck-webbing
SpecialtyPediatrics, medical genetics
SymptomsWebbed neck, short stature, swollen hands and feet[1]
ComplicationsHeart defects, diabetes, low thyroid hormone[1]
Usual onsetAt birth[1]
DurationLong term
CausesMissing X chromosome[2]
Diagnostic methodPhysical signs, genetic testing[3]
MedicationHuman growth hormone, estrogen replacement therapy[4]
PrognosisShorter life expectancy[5]
Frequency1 in 2,000 to 5,000[6][7]

Turner syndrome (TS), also known 45,X, or 45,X0, is a genetic condition in which a female is partly or completely missing an X chromosome.[2] Signs and symptoms vary among those affected.[1] Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth.[1] Typically, they develop menstrual periods and breasts only with hormone treatment, and are unable to have children without reproductive technology.[1] Heart defects, diabetes, and low thyroid hormone occur more frequently.[1] Most people with TS have normal intelligence.[1] Many have troubles with spatial visualization that may be needed for mathematics.[1] Vision and hearing problems occur more often.[5]

Turner syndrome is not usually inherited; rather, it occurs as a result of a genetic defect arising during formation of the reproductive cells in a parent or in early cell division during development.[8][9] No environmental risks are known, and the mother's age does not play a role.[8][10] Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered.[11] While most people have 46 chromosomes, people with TS usually have 45.[11] The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism.[5] In these cases, the symptoms are usually fewer and possibly none occur at all.[12] Diagnosis is based on physical signs and genetic testing.[3]

No cure for Turner syndrome is known.[4] Treatment may help with symptoms.[4] Human growth hormone injections during childhood may increase adult height.[4] Estrogen replacement therapy can promote development of the breasts and hips.[4] Medical care is often required to manage other health problems with which TS is associated.[4]

Turner syndrome occurs in between one in 2,000[6] and one in 5,000 females at birth.[7] All regions of the world and cultures are affected about equally.[8] Generally people with TS have a shorter life expectancy, mostly due to heart problems and diabetes.[5] Henry Turner first described the condition in 1938.[13] In 1964, it was determined to be due to a chromosomal abnormality.[13]

References[edit]

  1. ^ a b c d e f g h i "What are the symptoms of Turner syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 27 March 2015. Retrieved 15 March 2015.
  2. ^ a b "Turner Syndrome: Overview". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 3 April 2013. Archived from the original on 2 April 2015. Retrieved 15 March 2015.
  3. ^ a b "How do health care providers diagnose Turner syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 2 April 2015. Retrieved 15 March 2015.
  4. ^ a b c d e f "What are common treatments for Turner syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 29 March 2015. Retrieved 15 March 2015.
  5. ^ a b c d Sybert VP, McCauley E (September 2004). "Turner's syndrome". The New England Journal of Medicine. 351 (12): 1227–38. doi:10.1056/NEJMra030360. PMID 15371580.
  6. ^ a b Donaldson MD, Gault EJ, Tan KW, Dunger DB (June 2006). "Optimising management in Turner syndrome: from infancy to adult transfer". Archives of Disease in Childhood. 91 (6): 513–20. doi:10.1136/adc.2003.035907. PMC 2082783. PMID 16714725. Archived from the original on 2012-03-07.
  7. ^ a b Marino, Bradley S. (2013). Blueprints pediatrics (Sixth ed.). Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins. p. 319. ISBN 978-1-4511-1604-5. Archived from the original on 2017-09-10.
  8. ^ a b c "How many people are affected or at risk?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 2 April 2015. Retrieved 15 March 2015.
  9. ^ "Turner syndrome". Genetics Home Reference. Archived from the original on 29 August 2020. Retrieved 8 January 2020.
  10. ^ Cummings, Michael (2015). Human Heredity: Principles and Issues. Cengage Learning. p. 161. ISBN 978-1-305-48067-4. Archived from the original on 2017-09-10.
  11. ^ a b "Turner Syndrome: Condition Information". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 29 March 2015. Retrieved 15 March 2015.
  12. ^ "What causes Turner syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 2 April 2015. Retrieved 15 March 2015.
  13. ^ a b Kelly, Evelyn B. (2013). Encyclopedia of human genetics and disease. Santa Barbara, Calif.: Greenwood. p. 818. ISBN 978-0-313-38714-2. Archived from the original on 2017-09-10.
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