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Revista Brasileira de Saúde Materno Infantil

versão impressa ISSN 1519-3829


JUNG, Monica de Paula et al. Diagnosis of Turner's Syndrome: the experience of the Rio de Janeiro State Institute of Diabetes and Endocrinology between 1970 and 2008. Rev. Bras. Saude Mater. Infant. [online]. 2010, vol.10, n.1, pp.117-124. ISSN 1519-3829.

OBJECTIVES: 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.

Palavras-chave : Turner syndrome; Diagnosis; Sex characteristics; Karyotype.

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