The epidemiology of Turner syndrome

International Congress Series

Volumn 1298, Issue , 2006, Pages 139-145

  Gravholt, Claus Højbjerg ^a   Stochholm, Kirstine ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Delay; Diagnosis; Epidemiology; Incidence; Morbidity; Mortality; Prevalence

Indexed keywords

EID: 33748917004     PISSN: 05315131     EISSN: None     Source Type: Book Series    
DOI: 10.1016/j.ics.2006.06.009     Document Type: Article

References (36)

1. Turner H.H. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23 (1938) 566-574
2. Ullrich O. Uber typische kombinationsbilder multipler abartungen. Z. Kinderheilkd. 49 (1930) 271-276
3. Imaizumi K., and Kuroki Y. Prevalence of Turner syndrome in Japan. In: Hibi I., and Takano K. (Eds). Basic and Clinical Approach to Turner Syndrome (1993), Excerpta Medica, Amsterdam 3-6
4. Nielsen J., and Wohlert M. Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig. Artic. Ser. 26 4 (1990) 209-223
5. Jacobs P.A., et al. A cytogenetic survey of 11,680 newborn infants. Ann. Hum. Genet. 37 (1974) 359-376
6. Bochkov N.P., et al. Population cytogenetic investigation of newborns in Moscow. Humangenetik 22 (1974) 139-152
7. Hamerton J.L., et al. A cytogenetic survey of 14,069 newborn infants: I. Incidence of chromosome abnormalities. Clin. Genet. 8 (1975) 223-243
8. Gravholt C.H., et al. Prenatal and postnatal prevalence of Turner's syndrome: a registry study. BMJ 312 (1996) 16-21
9. Hook E.B., and Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum. Genet. 64 (1983) 24-27
10. Amiel A., et al. Are all phenotypically-normal Turner syndrome fetuses mosaics?. Prenatal Diagn. 16 9 (1996) 791-795
11. Koeberl D.D., McGillivray B., and Sybert V.P. Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome. Am. J. Hum. Genet. 57 3 (1995) 661-666
12. Blair J., et al. Phenotype, ovarian function, and growth in patients with 45,X/47,XXX Turner mosaicism: implications for prenatal counseling and estrogen therapy at puberty. J. Pediatr. 139 5 (2001) 724-728
13. Huang B., et al. Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations. Prenatal Diagn. 22 2 (2002) 105-110
14. Gilbert B., et al. Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling. Prenatal Diagn. 22 8 (2002) 697-702
15. Savendahl L., and Davenport M.L. Delayed diagnoses of Turner's syndrome: proposed guidelines for change. J. Pediatr. 137 4 (2000) 455-459
16. Massa G., et al. Trends in age at diagnosis of Turner syndrome. Arch. Dis. Child. 90 3 (2005) 267-268
17. Gravholt C.H. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur. J. Endocrinol. 151 6 (2004) 657-687
18. Ranke M.B., et al. Turner syndrome: spontaneous growth in 150 cases and review of the literature. Eur. J. Pediatr. 141 (1983) 81-88
19. Lyon A.J., Preece M.A., and Grant D.B. Growth curve for girls with Turner syndrome. Arch. Dis. Child. 60 10 (1985) 932-935
20. Rochiccioli P., et al. Study of final height in Turner's syndrome: ethnic and genetic influences. Acta Paediatr. 83 (1994) 305-308
21. Pasquino A.M., et al. Spontaneous pubertal development in Turner's syndrome. Italian Study Group for Turner's Syndrome. J. Clin. Endocrinol. Metab. 82 6 (1997) 1810-1813
22. Gravholt C.H., et al. Morbidity in Turner syndrome. J. Clin. Epidemiol. 51 2 (1998) 147-158
23. Hasle H., et al. Occurrence of cancer in women with Turner syndrome. Br. J. Cancer 73 (1996) 1156-1159
24. Swerdlow A.J., et al. Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. Ann. Hum. Genet. 65 Pt 2 (2001) 177-188
25. Price W.H., et al. Mortality ratios, life expectancy, and causes of death in patients with Turner's syndrome. J. Epidemiol. Community Health 40 (1986) 97-102
26. C.H. Gravholt, et al. Clinical and epidemiological description of aortic dissection in Turner's syndrome, Cardiol. Young (in press).
27. Gravholt C.H., et al. Nocturnal hypertension and impaired sympathovagal tone in Turner syndrome. J. Hypertens. 24 (2006) 353-360
28. Landin-Wilhelmsen K., Bryman I., and Wilhelmsen L. Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome. J. Clin. Endocrinol. Metab. 86 9 (2001) 4166-4170
29. Nathwani N.C., et al. Blood pressure and Turner syndrome. Clin. Endocrinol. (Oxf.) 52 3 (2000) 363-370
30. Ostberg J.E., et al. Vasculopathy in Turner syndrome: arterial dilatation and intimal thickening without endothelial dysfunction. J. Clin. Endocrinol. Metab. 90 9 (2005) 5161-5166
31. Baguet J.P., et al. Structural and functional abnormalities of large arteries in the Turner syndrome. Heart 91 11 (2005) 1442-1446
32. Cooley M., Bakalov V., and Bondy C.A. Lipid profiles in women with 45,X vs 46,XX primary ovarian failure. JAMA 290 16 (2003) 2127-2128
33. Gravholt C.H., et al. Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner syndrome: the impact of sex hormone replacement. Diabetes Care 21 7 (1998) 1062-1070
34. Gravholt C.H., et al. Increased fracture rates in Turner's syndrome: a nationwide questionnaire survey. Clin. Endocrinol. (Oxf.) 59 1 (2003) 89-96
35. Hanton L., et al. The importance of estrogen replacement in young women with Turner syndrome. J. Women's Health (Larchmt.) 12 10 (2003) 971-977
36. Tomlinson J.W., et al. Association between premature mortality and hypopituitarism. West Midlands Prospective Hypopituitary Study Group. Lancet 357 9254 (2001) 425-431