Turner’s syndrome requires multidisciplinary approach
Authors:
M. Berková 1; Z. Berka 2; Z. Krčová 3
Authors place of work:
I. interní klinika Lékařské fakulty UP a FN Olomouc, přednosta prof. MUDr. Jan Lukl, CSc.
1; II. interní klinika Lékařské fakulty UP a FN Olomouc, přednosta doc. MUDr. Vlastimil Procházka, Ph. D.
2; Ústav patologie Lékařské fakulty UP a FN Olomouc, přednosta doc. MUDr. Martin Tichý, CSc.
3
Published in the journal:
Vnitř Lék 2009; 55(5): 501-505
Category:
Reviews
Summary
Turner syndrome is one of the most frequent genetic disorders, the result of complete or partial monosomy of the X chromosome. It affects 1 : 2,500 live female births. The principal features of Turner syndrome are short stature and ovarian dysgenesis accompanied by estrogen deficit. Turner syndrome is associated with further numerous, more or less serious abnormalities and high risk of cardiovascular mortality. The article concisely summarizes the most frequent problems in Turner syndrome and emphasizes the need of multidisciplinary care for affected patients.
Key words:
Turner syndrome – ovarian dysgenesis – estrogen deficit – congenital disease – cardiovascular mortality
Zdroje
1. Turner H. A syndrome of infatilism, congenital webbed neck and cubitus valgus. Endocrinology 1938; 23: 566–574.
2. Ullrich O. Über typische Kombinationsbilder multipler Abartugen. Z Kinderheilk 1930; 49: 271–276.
3. Avner P, Heard E. X chromosome inactivation: counting, choice and initiation. Ann Rev gen 2001; 2: 59–67.
4. Held KR, Kerber S, Kaminski E et al. Hypothesis: 45,X Turner syndrome does not exist. All surviving patients have sex-chromosomal mosaicism. In: Turner syndrome: Growth promoting therapies. Elsevier Science Publishers BV, Ranke, Rosenfeld ed. 1991.
5. Elsheikh M, Dunger DB, Conway GS et al. Turner syndrome in Adulthood. Endocrine Reviews 2002; 23: 120–140.
6. Zapletalová J, Lebl J, Šnajderová M. Turnerův syndrom. Praha: Galén 2003: 35–37.
7. Zinn AR, Tonk VS, Chen Z et al. Evidence of a Turner syndrome locus or loci at Xp11.2–p22.1. Am J Hum Gen 1998; 63: 1757–1766.
8. Loscalzo ML, Van PL, Ho VB et al. Association between fetal lymphedema and congenital cardiovascular defects in Turner Syndrome. Pediatr 2005; 115: 732–735.
9. Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Gen 1995; 95: 607–629.
10. Pasquino AM, Passeri F, Pucarelli I et al. Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Turner’s Syndrome. J Clin Endocrinol metab 1997; 82: 1810–1813.
11. Tarani L, Lampariello S, Raguso G et al. Pregnancy in patients with Turner’s syndrome: six new cases and review of literature. Gynecol Endocrinol 1998; 12: 83–87.
12. Bachrach LK. Bone mineralization inchildhood and adolescence. Curr Opin Pediatr 1993; 5: 467–473.
13. Stepan JJ, Musilova J, Pacovsky V. Bone demineralization, biochemical indices of bone remodeling, and estrogen replacement therapy in adults with Turner syndrome. J Bone Miner Res 1989; 4: 193–198.
14. Naeraa RW, Gravholt CH, Hansen J et al. Mortality in Turner syndrome. In: Albertsson-Wikland K, Ranke MB (eds). Turner syndrome in a lifespan perspective: research and clinical aspects. Amsterdam: Elsevier 1995: 323.
15. Gravholt CH. Turner Syndrome in Adulthood. Hormone Research 2005; 64 (Suppl 2).
16. Mazzanti L, Cacciari E. Congenital heart disease in patients with Turner’s syndrome. Italian Study Group for Turner Syndrome (ISGTS). J Pediatr 1998; 133: 688–692.
17. Sybert VP. Cardiovascular malformations and complications in Turner syndrome. Pediatr 1998; 101: E11.
18. Ho VB, Bakalov VK, Cooley M et al. Major vascular anomalies in Turner syndrome. Circulation 2004; 110: 1694–700.
19. Bondy CA, Ceniceros I, Van PLet al. Prolonged of rate-corrected QT interval and other electrocardiogram abnormalities in girls with Turner syndrome. Pediatrics 2006; 118: 1220e–1225e.
20. Nathwani NC, Unwin R, Brook CG et al. Blood pressure and Turner syndrome. Clin Endocrin (Oxf) 2000; 52: 363–370.
21. Ho SL, Gleeson HK, Smerthurst L et al. Hypertension and plasma renin activity in women with Turner syndrome. London UK: Society for Endocrinology Annual Meeting 2003.
22. Bakalov VK, Cooley MM, Quon MJ et al. Impaired insulin secretion in the Turner metabolic syndrome. J Clin Endocrinol Metab 2004; 89: 3516–3520.
23. Gravholt CH, Naeraa RW, Nyholm B et al. Glucose metabolism, lipid metabolism and cardiovascular risk factors in adult Turner’s syndrome. The impact of sex hormone replacement. Diabetes Care 1998; 21: 1062–1070.
24. Elsheikh M, Wass JAH, Conway GS. Autoimunne thyroide disease in women with Turner’s syndrome – the association with caryotype. Clin Endocrin (Oxf) 2001; 55: 223–226.
25. Gravholt CH, Juul S, Naeraa RW et al. Morbidity in Turner syndrome. J Clin Epidemiol 1998; 51: 147–158.
26. Skuse DH, James RS, Bishop DVM et al. Evidence from Turner’s syndrome of an imprinted X‑linked locus affecting cognitive function. Nature 1997; 387: 705–708.
27. Sass TC, De Muinck Keizer Schrama SM, Stijnen T et al. A longitudinal study on bone mineral density until adulthood in girls with Turner’s syndrome participating in a growth hormone injection frequency-response trial. Clin Endocrin (Oxf) 2000; 52: 531–536.
28. Davenport ML, Crowe BJ, Travers SH et al. Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled multicentral study. J Clinic Endocrinol & Metabolism 2007; 92: 3406–3416.
29. Cleemann L. Defining of Optimal Hormonal Replacement Therapy in Turner Syndrome. Pediatric Unit, Hillerod Hospital, Denmark 2007, MedLine.
Štítky
Diabetology Endocrinology Internal medicineČlánok vyšiel v časopise
Internal Medicine
2009 Číslo 5
Najčítanejšie v tomto čísle
- Extrinsic allergic alveolitis – rarely diagnoticated disease
- Turner’s syndrome requires multidisciplinary approach
- Comparison of various methods of body fat analysis in overweight and obese women
- Turner syndrome is associated with increased cardiovascular morbidity and mortality