Diagnóstico da Síndrome de Turner: a experiência do Instituto Estadual de Diabetes e Endocrinologia - Rio de Janeiro, de 1970 a 2008

Diagnosis of Turner’s Syndrome: the experience of the Rio de Janeiro State Institute of Diabetes and Endocrinology between 1970 and 2008

dc.creatorJung, Monica de Paula
dc.creatorAmaral, Jorge Luiz do
dc.creatorFontes, Rosita Gomes
dc.creatorCosta, Aline Teixeira da
dc.creatorWuillaume, Susana Maciel
dc.creatorCardoso, Maria Helena Cabral de Almeida
dc.date2011-03-26T20:42:21Z
dc.date2011-03-26T20:42:21Z
dc.date2010
dc.date.accessioned2023-09-26T22:52:31Z
dc.date.available2023-09-26T22:52:31Z
dc.identifierJUNG, Monica de Paula et al. Diagnóstico da Síndrome de Turner: a experiência do Instituto Estadual de Diabetes e Endocrinologia - Rio de Janeiro, de 1970 a 2008. Rev. Bras. Saúde Matern. Infant., Recife, v. 10, n. 1, p. 117-124, jan./mar. 2010.
dc.identifier1806-9304
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/1755
dc.identifier10.1590/S1519-38292010000100012
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8884241
dc.descriptionObjetivos: descrever a experiência no diagnóstico da Síndrome de Turner (ST), focalizando a distribuição dos cromossomos, a idade, os sinais e sintomas característicos, conforme as fases da vida (lactância, infância, adolescência e adulta). Métodos: estudo descritivo com 178 pacientes, atendidos de 1970 até 2008. Para análise estatística das diferenças percentuais usou-se o Epi-Info-2000 e para as diferenças entre as médias de idades o teste t de Student e o ANOVA. Resultados: os cariótipos encontrados foram: 79 com 45,X (35,4%), 36 com isocromossomo Xq (20,2%) e 63 com outros mosaicos (35,4%). A média de idade do diagnóstico foi de 12,6 anos, sendo menor naquelas com 45,X. Tiveram o diagnóstico feito na lactância 11,3% das pacientes, 25,3% na infância, 51,1% na adolescência e 12,4% na fase adulta. Daquelas diagnosticadas antes dos cinco anos de idade, 70,6% apresentaram 45,X. Os sinais que levaram à suspeita diagnóstica na lactância foram o pescoço alado e o linfedema congênito de pés/mãos associados às dismorfias típicas; na infância e adolescência foi a baixa estatura. Cubitus valgus foi encontrado em 72,5% das pacientes e orelhas anômalas em 65% das pacientes diagnosticadas com menos de um ano de idade. Conclusão: o diagnóstico da ST é desnecessariamente atrasado, levando-se em consideração que algumas características típicas podem já estar presentes desde o nascimento.
dc.descriptionObjectives: to describe the Rio de Janeiro State Institute of Diabetes and Endocrinology’s experience in diagnosing Turner Syndrome (TS), focusing on the distribution of chromosomes, age, and typical signs and symptoms, according to life stage (breast feeding, childhood, adolescence and adulthood). Methods: a descriptive study was conducted of 178 patients, attending the Institute between 1970 and 2008 for the purposes of statistical analysis of the percentage differences using Epi-Info-2000 and of the differences between the mean ages using Student’s t test and ANOVA Results: the caryotypes found were: 79 with 45,X (35.4%), 36 with isochromosome Xq (20.2%) and 63 with other mosaics (35.4%). The mean age on diagnosis was 12.6 years, this figure being lower in patients with 45,X. The syndrome was diagnosed during breast feeding in 11.3% of patients, during childhood in 25.3%, during adolescence in 51.1%, and in 12.4% in adulthood. In those diagnosed before the age of five years, 70,6% had 45,X, signs that led to a suspected diagnosis during breast feeding were a webbed neck and congenital lymphedema in the hands and feet associated with typical dysmorphias. In childhood and adolescence the sign was short stature. Cubitus valgus was found in 72.5% of patients and abnormal ears in 65% of those diagnosed at an age of less than one year. Conclusion: diagnosis of TS does not necessarily have to be late, as some typical characteristics may already be present at birth.
dc.formatapplication/pdf
dc.languagepor
dc.relation1. Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinol. 1938; 23: 566-74. 2. Jones KL, Smith DW. Turner Syndrome. In: Smith’s recognizable patterns of human malformation. Philadelphia: Elsevier Sauders; 2006. p. 76-81. 3. Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006; 91: 3897-902. 4. Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbity in Turner syndrome. J Clin Epidemiol. 1998; 51: 147-58. 5. Rosenfeld RG, Frane J, Attie KM, Brasel JA, Burstein S, Cara JF, Chernausek S, Gotlin RW, Kuntze J, Lippe BM, Mahoney PC, Moore VW, Saenger P, Johanson AJ. Six-year results of a randomized, prospective trial of human growth hormone and oxandrolone in Turner syndrome. J Pediatr (Rio J). 1992; 121: 49-55 6. Davenport ML, Crowe BJ, Travers SH, Rubin K, Ross JL, Fechner PY, Gunter DF, Liu C, Geffner M, Thrailkill K, Huseman C, Zagar AJ, Quiqley C. Growth hormone treatment of early growth failure in toddlers with Turner Syndrome: a randomized, controlled, multicenter trial. J Clin Endocrinol Metab. 2007; 92: 3406-16. 7. Hook EB, 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. 1983; 64: 24-27. 8. Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA. Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. Lancet Oncol. 2008; 9: 239-46. 9. El-Mansoury M, Barrenäs ML, Bryman I, Hanson C, Larsson C, Wilhelmsen L, Landin-Wilhelmsen K. Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome. Clin Endocrinol. 2007; 66: 744-51. 10. Hassold T, Benhaham F, Leppert M. Cytogenetics and molecular analysis of sex chromosome monossomy. Am J Hum Genet. 1988; 42: 534-41. 11. Araújo A, Ramos ES. Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome. Braz J Med Biol Res. 2008; 41: 368-72. 12. Martins RRS, Ramos HIB, Llerena Jr. JC, Almeida JCC. Investigação clínica e genética em meninas com baixa estatura idiopática. Arq Bras Endocrinol Metab. 2003; 47: 684-94. 13. Berdahl LD, Wenstrom KD, Hanson JW. Web neck anomaly and its association with congenital heart disease. Am J Med Genet. 1995; 10; 56: 304-7. 14. Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsey S, Rappold GA . The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet. 2000; 9: 695-702. 15. Kosho T, Muroya K, Nagai T, Fugimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: Implications for the development of Turner syndrome. J Clin Endocrinol Metab. 1999; 84: 4613-21. 16. Savendahl L, Davenport ML. Delayed diagnoses of Turner´s syndrome: Proposed guidelines for change. J Pediatr (Rio J). 2000; 137: 455-9. 17. Rappold GA, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet. 2007; 44: 306-13. 18. Massa G, Verlinde F, De Shepper J, Thomas M, Bourgignon JP, Craen M, de Zegher F, Francois I, Du Caju M, Maes M, Heinrichs C, The Belgian Study Group for Paediatric Endocrinology. Trends in age at diagnosis of Turner syndrome. Arch Dis Child. 2005; 90: 267-8. 19. Massa GG, Vanderschueren-Lodeweyckx M. Age and height at diagnosis in Turner syndrome: influence of parental height. Pediatrics. 1991; 88: 1148-52. 20. Moreno-García, M, Martínez, FJF, Miranda EB. Chromosomal anomalies in patients with short stature. Pediatr Interl. 2005; 47: 546-9. 21. Lemos-Marini SH, Morcillo AM, Baptista MT, Guerra-Jr G, Maciel-Guerra AT. Spontaneous final height in Turner's syndrome in Brazil. J Pediatr Endocrinol Metab. 2007; 20: 1207-14. 22. Román R, Vallejos ME, Muñoz M, Schneider R, Youlton R, Henriquez C, Cassorla F. Turner's syndrome: growth and clinical description of 83 Chilean girls. Rev Med Chil. 2002; 130: 977-84. 23. Soriano-Guillén L, Coste J, Ecosse E, Léger J, Tauber M, Cabrol S, Nicolino M, Brauner R, Chaussain JL, Carel JC. Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone J Clin Endocrinolo Metab. 2005; 90: 5197-204. 24. Ramos AV, Silva IN, Goulart EMA. Turner syndrome: searching for better outcomes. Clinics. 2008; 63: 173-8. 25. Isojima T, Yokoya S, Ito J, Horikawa R, Tanaka T. Trends in Age and Anthropometric Data at Start of Growth Hormone Treatment for Girls with Turner Syndrome in Japan. [Accessed 26 out 2008]. Available in: http://www.jstage.jst.go.jp/ article/endocrj/ advpub/0/ advpub_ 0808250186/_article 26. Bondy CA. Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group. J Clin Endocrinol Metab. 2007; 92: 10-25. 27. Betts PR, Butler GE, Donaldson MDC, Dunger DB, Johnston DI, Kelnar CJH, Krik J, Price DA, Wilton P. A decade of growth hormone treatment in girls with Turner syndrome in the UK. UK KIGS Executive Group. Arch Dis Child. 1999; 80: 221-5. 28. Rongen-Westerlaken C, Corel L, Van den Broeck J, Massa G, Kalberg J, Albertsson-Wikland,K Naeraa RW, Wit JM. Reference values for height, height velocity and weight in Turner's syndrome. Acta Paediatr. 1997; 86: 937-42. 29. Davenport ML, Punyasavatsut N, Stewart PW, Gunther DF, Sävendahl L, Sybert VP. Growth failure in early life: An important manifestation of Turner Syndrome. Horm Res. 2002; 57: 157-64.
dc.rightsopen access
dc.subjectSíndrome de Turner
dc.subjectDiagnóstico
dc.subjectCaracteres Sexuais
dc.subjectCariótipo
dc.subjectTurner syndrome
dc.subjectDiagnosis
dc.subjectSex characteristics
dc.subjectKaryotype
dc.subjectSíndrome de Turner - diagnóstico
dc.subjectSíndrome de Turner - complicações
dc.subjectCaracteres Sexuais
dc.titleDiagnóstico da Síndrome de Turner: a experiência do Instituto Estadual de Diabetes e Endocrinologia - Rio de Janeiro, de 1970 a 2008
dc.titleDiagnosis of Turner’s Syndrome: the experience of the Rio de Janeiro State Institute of Diabetes and Endocrinology between 1970 and 2008
dc.typeArticle


Este ítem pertenece a la siguiente institución