Turner syndrome natural history, complications and prognosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Akash Daswaney, M.B.B.S[2]

Overview

Natural history of the patient would depend on the age of the diagnoses and what complications have developed by the time the patients presents to the physician. Congenital lymphedema may take several years to decrease. The patient experiences low self esteem due to their short stature, decreased visual spatial functioning, hyperactivity, poor facial recognition and preference for social isolation. As soon as the patient is capable of understanding, counseling regarding the risks and benefits of Turner syndrome should be explained. When compared to the general population, Turner syndrome patients have an increased mortality rate.

Natural History and Complications[1][2]

  • The natural history of Turner syndrome patients depends on the age of diagnosis .
    • The age of diagnosis would in turn determine when they present to the physician.
  • A newborn would typically present with lymphedema of the hands and feet, pterygium colli (webbed neck), low posterior hairline, cubitus valgus, Madelung deformity and cyanosis secondary to congenital heart disease. [3]
  • Children around 2 years of age begin to dip below the 5th percentile and exhibit weight loss due to feeding difficulties.
    • This progresses to complaints of hearing loss, behavioral difficulties, low self esteem due to short stature and obesity. "Turner Syndrome - StatPearls - NCBI Bookshelf".
    • Visuospatial deficits would affect the child’s performance in school.
  • As soon as the patient is capable of understanding, the physician should actively counsel explaining the risks, benefits and process of transitioning to adult care. [4]
System Clinical features and Complications
Gonadal
Endocrine
Gastrointestinal and hepatic
Ophthalmology
Otorhinolayngology
Neck
Chest
  • Wide shield shaped chest with broadly spaced inverted nipples
Skin, hair and nail
Skeletal
Cardiac
Renal
Psychological

Special Notes [3]

Prognosis

References

  1. Adhikary HP (1981). "Ocular manifestations of Turner's syndrome". Trans Ophthalmol Soc U K. 101 (Pt 4): 395–6. PMID 6964261.
  2. Gravholt CH (2005). "Clinical practice in Turner syndrome". Nat Clin Pract Endocrinol Metab. 1 (1): 41–52. doi:10.1038/ncpendmet0024. PMID 16929365.
  3. 3.0 3.1 Kesler SR (2007). "Turner syndrome". Child Adolesc Psychiatr Clin N Am. 16 (3): 709–22. doi:10.1016/j.chc.2007.02.004. PMC 2023872. PMID 17562588.
  4. Frías JL, Davenport ML, Committee on Genetics and Section on Endocrinology (2003). "Health supervision for children with Turner syndrome". Pediatrics. 111 (3): 692–702. doi:10.1542/peds.111.3.692. PMID 12612263.
  5. Sybert VP, McCauley E (2004). "Turner's syndrome". N Engl J Med. 351 (12): 1227–38. doi:10.1056/NEJMra030360. PMID 15371580.
  6. Wolff DJ, Van Dyke DL, Powell CM, Working Group of the ACMG Laboratory Quality Assurance Committee (2010). "Laboratory guideline for Turner syndrome". Genet Med. 12 (1): 52–5. doi:10.1097/GIM.0b013e3181c684b2. PMID 20081420.


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