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Turner syndrome

From Wikipedia
Turner syndrome
class of disease, intersex condition
Subclass ofgonadal dysgenesis, X chromosome number anomaly with female phenotype, disease Edit
Facet givewomen's health Edit
Dem name afterHenry Turner Edit
Discoverer or inventorHenry Turner Edit
Health specialtymedical genetics Edit
NCI Thesaurus IDC26900, C85210, C34434 Edit

Turner syndrome (TS), dem commonly know as 45,X, anaa 45,X0, be a chromosomal disorder insyd wich cells of females get one X chromosome per instead of two, anaa e partially dey miss an X chromosome (sex chromosome monosomy) wey dey lead to de complete anaa partial deletion of de pseudoautosomal regions (PAR1, PAR2) insyd de affected X chromosome.[1][2][3] Humans typically get two sex chromosomes, XX for females anaa XY for males. De chromosomal abnormality often be present insyd just sam cells, insyd wich case e be known as Turner syndrome plus mosaicism.[3][4] 45,X0 plus mosaicism fi occur insyd males anaa females,[5] buh Turner syndrome widout mosaicism dey occur insyd females per.[1][2] Signs den symptoms dey vary among those wey be affected buh often dey include additional skin folds on de neck, arched palate, low-set ears, low hairline at de nape of de neck, short stature, den lymphedema of de hands den feet.[6] Those wey be affected no dey normally develop menstrual periods anaa mammary glands widout hormone treatment wey dem be unable to reproduce widout assistive reproductive technology. Dem dey find small chin (micrognathia), loose folds of skin on de neck, slanted eyelids den prominent ears insyd Turner syndrome, though no be all go show am.[6] Heart defects, Type II diabetes, den hypothyroidism dey occur insyd de disorder more frequently dan average.[6] Chaw people plus Turner syndrome get normal intelligence; however, sam get problems plus spatial visualization wey fi hinder learning mathematics.[6] Ptosis (droopy eyelids) d3n conductive hearing loss sanso dey occur more often dan average.[3]

Turner syndrome be caused by one X chromosome (45,X), a ring X chromosome, 45,X/46,XX mosaicism, anaa a small piece of de Y chromosome insyd wat for be an X chromosome. Dem fi get a total of 45 chromosomes anaa dem no go develop menstrual periods secof loss of ovarian function genes. Dema karyotype often dey lack Barr bodies secof lack of a second X anaa dem fi get Xp deletions. E dey occur during formation of de reproductive cells insyd a parent anaa insyd early cell division during development.[7][8] No environmental risks be known, den de mommie ein age dey play a role.[7][9] While chaw people get 46 chromosomes, people plus Turner syndrome usually get 45 insyd sam anaa all cells.[2] Insyd cases of mosaicism, de symptoms usually be fewer, den possibly none dey occur at all.[10] Diagnosis be based on physical signs den genetic testing.[11]

No cure for Turner syndrome be known.[12] Treatment fi help plus symptoms.[12] Human growth hormone injections during kiddie time fi increase adult height.[12] Estrogen replacement therapy fi promote development of de breasts den hips.[12] Medical care often be required to manage oda health problems plus wich Turner syndrome be associated.[12]

Turner syndrome dey occur insyd between one insyd 2,000[13] den one insyd 5,000 females at birth.[14] All regions of de world den cultures be affected about equally.[7] Generally people plus Turner syndrome get a shorter life expectancy, mostly secof heart problems den diabetes.[3] Na American endocrinologist Henry Turner first describe de condition insyd 1938.[15] Insyd 1964, na dem determine e be secof a chromosomal abnormality.[15]

References

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  1. 1 2 "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.
  2. 1 2 3 "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.
  3. 1 2 3 4 Sybert VP, McCauley E (September 2004). "Turner's syndrome". The New England Journal of Medicine. 351 (12): 1227–1238. doi:10.1056/NEJMra030360. PMID 15371580.
  4. ↑ Sybert, Virginia P.; McCauley, Elizabeth (2004-09-16). "Turner's Syndrome". New England Journal of Medicine. 351 (12): 1227–1238. doi:10.1056/nejmra030360. ISSN 0028-4793. PMID 15371580.
  5. ↑ Knoll MM, Strickland J, Jacobson JD (2022). "Can Boys Have Turner Syndrome? More than a Question of Semantics". Sexual Development. 16 (1): 19–26. doi:10.1159/000518092. PMID 34515231.
  6. 1 2 3 4 "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.
  7. 1 2 3 "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.
  8. ↑ "Turner syndrome". Genetics Home Reference. Retrieved 8 January 2020.
  9. ↑ Cummings M (2015). Human Heredity: Principles and Issues. Cengage Learning. p. 161. ISBN 978-1-305-48067-4. Archived from the original on 10 September 2017.
  10. ↑ "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.
  11. ↑ "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.
  12. 1 2 3 4 5 "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.
  13. ↑ 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): 513–520. doi:10.1136/adc.2003.035907. PMC 2082783. PMID 16714725. Archived from the original on 7 March 2012.
  14. ↑ Marino BS (2013). Blueprints pediatrics (6th ed.). Philadelphia: Wolters Kluwer / Lippincott Williams & Wilkins. p. 319. ISBN 978-1-4511-1604-5. Archived from the original on 10 September 2017.
  15. 1 2 Kelly EB (2013). Encyclopedia of human genetics and disease. Santa Barbara, CA: Greenwood. p. 818. ISBN 978-0-313-38714-2. Archived from the original on 10 September 2017.

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