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Turners syndrom

Sist revidert:
Sist revidert av:

Definisjon:
Klinisk syndrom karakterisert ved medfødt lymfødem, kortvoksthet, gonadal dysgenese på bakgrunn av karyotype 45,X (evt. mosaikk)
Forekomst:
1 av ca 2000-3000 kvinner
Symptomer:
Veksthemming fra 18 måneders alder, primær amenoré og manglende kjønnsmodning med fraværende sekundære kjønnskarakteristika
Funn:
Kortvoksthet, forbigående lymfødem, bred thorax, bred hals, hypogonadisme, bred avstand mellom brystvortene, cubitus valgus, korte metakarper/metatarser. Mindre tydelige funn ved mosaikk. Normal intelligens
Diagnostikk:
Kariotyping (mosaikk kan gi feil svar), FSH/LH, østradiol, FT4, TSH
Behandling:
Symptomatisk behandling med veksthormon og østrogenterapi
  1. Sybert VP, McCauley E. Turner's syndrome. N Engl J Med 2004; 351: 1227-38. PubMed  
  2. Fechner PY. Turner's syndrome. BMJ Best Practice, last reviewed 22 Sep 2020.
  3. Bondy CA; Turner Syndrome Consensus Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007 Jan;92(1):10-25. PubMed  
  4. Iyer NP, Tucker DF, Roberts SH, et al. Outcome of fetuses with Turner syndrome: a 10-year congenital anomaly register based study. J Matern Fetal Neonatal Med. 2012;25:68-73. PubMed  
  5. Ranke MB, Saenger P. Turner's syndrome. Seminar. Lancet 2001; 358: 309-14. PubMed  
  6. Huang YC, Lee CT, Wu MZ, et al. The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center. J Formos Med Assoc. 2019;118(1 Pt 3):450-456. PMID: 30017534. PubMed  
  7. Gravholt, Claus H. et al; Clinical practice guidelines for the care of girls and women with Turner Syndrome. Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. European Journal of Endocrinology. 2017 September. 177(3). Published online 14 July 2017.
  8. Reimann GE, Comis LE, Bernad Perman MM. Cognitive Functioning in Turner Syndrome: Addressing Deficits Through Academic Accommodation. Womens Health Rep (New Rochelle). 2020;1(1):143-149. Published 2020 May 27. PMID: 32617534. PubMed  
  9. Russell HF, Wallis D, Mazzocco MM, et al. Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects. J Pediatr Psychol. 2006;31(9):945-955. PMID: 16524959. PubMed  
  10. Alves C, Oliveira CS. Hearing loss among patients with Turner's syndrome: literature review. Braz J Otorhinolaryngol. 2014;80(3):257-263. PMID: 25153112. PubMed  
  11. Hong DS, Reiss AL. Cognition and behavior in Turner syndrome: a brief review. Pediatr Endocrinol Rev. 2012 May;9 Suppl 2(0 2):710-2. PMID: 22946281.
  12. Donato B, Ferreira MJ. Cardiovascular risk in Turner syndrome. Rev Port Cardiol. 2018 Jul;37(7):607-621. English, Portuguese. doi: 10.1016/j.repc.2017.08.008. Epub 2018 Jun 1. PMID: 29866389. PubMed  
  13. Bertapelli F, Barros-Filho Ade A, Antonio MÂ, et al. Growth curves for girls with Turner syndrome. Biomed Res Int. 2014;2014:687978. PubMed  
  14. Canadian Growth Hormone Advisory Committee. Impact of growth hormone supplementation on adult height in Turner syndrome: results of the Canadian randomized controlled trial. J Clin Endocrinol Metab. 2005;90:3360-3366. PubMed  
  15. Gault EJ, Perry RJ, Cole TJ, et al. Effect of oxandrolone and timimg of pubertal induction on final height in Turner's syndrome: randomised, double blind, placebo controlled trial. BMJ 2011; 342: d1980. BMJ (DOI)  
  16. Arulanantham K, Kramer MS, Gryboski JD. The association of inflammatory bowel disease and X chromosomal abnormality. Pediatrics 1980; 66: 63-7. Pediatrics  
  17. Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner syndrome. J Clin Epidemiol 1998; 51: 147-58. PubMed  
  • Terje Johannessen, professor i allmennmedisin, Trondheim

Tidligere fagmedarbeidere

  • Kurt Østhuus Krogh, spesialist i barnesykdommer, Norsk Helseinformatikk/ Barne-og ungdomsklinikken, St. Olavs Hospital
  • Per Bergsjø, professor emeritus, dr. med., Universitetet i Bergen. Spesialist i kvinnesykdommer og fødselshjelp, forsker ved Nasjonalt folkehelseinstitutt, Oslo