Artículos de revistas
Turner Syndrome: A Pediatric Diagnosis Frequently Made By Non-pediatricians
Registro en:
Jornal De Pediatria. , v. 86, n. 2, p. 121 - 125, 2010.
217557
10.2223/JPED.1985
2-s2.0-77951542284
Autor
De Carvalho A.B.
Guerra Jr. G.
Baptista M.T.M.
Marques-de-Faria A.P.
De Lemos-Marini S.H.V.
Maciel-Guerra A.T.
Institución
Resumen
Objective: To analyze the clinical features of patients with suspected diagnosis of Turner syndrome (TS) in a reference service. Methods: Retrospective analysis of 425 patients: data pertaining to age, height and pubertal stage at diagnosis, as well as the specialty of the physician who referred the patient were collected. Patients with and without TS were compared, as well as those with TS according to specialty of the physician; the correlation between age and height at diagnosis was analyzed. Results: TS diagnosis was made in 36.9% of the cases with a mean age of 12.0 years, and height z score = 3.09; pubertal delay was found in 71.4% of the 63 patients aged more than 13 years. When compared to the other patients, girls with TS had a higher height deficit and higher frequency of pubertal delay. TS patients referred by pediatricians were significantly younger (9.3 years vs. 15.4 years), but their height and frequency of pubertal delay were similar to those referred by non-pediatricians. There was a significant negative linear correlation between age and height in the total amount of patients with TS, but not among those referred by non-pediatricians. Conclusions: Mean age at TS diagnosis is still higher than that observed in developed countries, and the presence of spontaneous pubertal signs and/or less pronounced growth deficit in some cases may contribute to delayed clinical suspicion of TS. Information required for early TS diagnosis must be spread among pediatricians and non-pediatricians. Copyright © 2010 by Sociedade Brasileira de Pediatria. 86 2 121 125 Sävendahl, L., Davenport, M.L., Delayed diagnoses of Turner's syndrome: Proposed guidelines for change (2000) J Pediatr., 137, pp. 455-459 Davenport, M.L., Punyasavatsut, N., Stewart, P.W., Gunther, D.F., Savendahl, L., Sybert, V.P., Growth failure in early life: An important manifestation of turner syndrome (2002) Hormone Research, 57 (5-6), pp. 157-164. , DOI 10.1159/000058376 Morgan, T., Turner syndrome: Diagnosis and management (2007) Am Fam Physician, 76, pp. 405-410 Zeferino, A.M., Barros Filho, A.A., Bettiol, H., Barbieri, M.A., Acompanhamento do crescimento (2003) J Pediatr (Rio J), 79 (SUPPL. 1), pp. S23-32 Viguetti, N.L., Maciel-Guerra, A.T., Baixa estatura na infância e síndrome de Turner: Uma associação mais frequente do que se supõe (1994) J Pediatr (Rio J), 70, pp. 172-174 Eggert, P., Pankau, R., Oldigs, H.D., How necessary is a chromosomal analysis in growth-retarded girls? (1990) Clin Genet., 37, pp. 351-354 Partsch, C.J., Raffenberg, U., Sippell, W.G., Screening for Turner's syndrome by chromosome analysis of all girls with short stature (2002) J Pediatr., 140, pp. 140-141 Bondy, C.A., Clinical practice guideline: Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group (2007) Journal of Clinical Endocrinology and Metabolism, 92 (1), pp. 10-25. , http://jcem.endojournals.org/cgi/reprint/92/1/10, DOI 10.1210/jc.2006-1374 Lam, W.F., Hau, W.L., Lam, T.S., Evaluation of referrals for genetic investigation of short stature in Hong Kong (2002) Chin Med J (Engl)., 115, pp. 607-611 Maciel-Guerra, A.T., (1998) A Evolução Dos Diagnósticos Clínico e Citogenético Da Síndrome de Turner: Cherchez la Petite Fille [Tese de Livredocência], , Campinas, SP: Universidade Estadual de Campinas Massa, G., Verlinde, F., De Schepper, J., Thomas, M., Bourguignon, J.P., Craen, M., De Zegher, F., Heinrichs, C., Trends in age at diagnosis of Turner syndrome (2005) Archives of Disease in Childhood, 90 (3), pp. 267-268. , DOI 10.1136/adc.2004.049817 Temtamy, S.A., Ghali, I., Salam, M.A., Hussein, F.H., Ezz, E.H., Salah, N., Karyotype/phenotype correlation in females with short stature (1992) Clin Genet., 41, pp. 147-151 Pasquino, A.M., Passeri, F., Pucarelli, I., Segni, M., Municchi, G., Spontaneous pubertal development in Turner's syndrome. Italian Study Group for Turner's Syndrome (1997) J Clin Endocrinol Metab., 82, pp. 1810-1813 Lyon, A.J., Preece, M.A., Grant, D.B., Growth curve for girls with Turner syndrome (1985) Archives of Disease in Childhood, 60 (10), pp. 932-935 Valente De Lemos-Marini, S.H., Morcillo, A.M., Matias Baptista, M.T., Guerra Jr., G., Maciel-Guerra, A.T., Spontaneous final height in Turner's syndrome in Brazil (2007) Journal of Pediatric Endocrinology and Metabolism, 20 (11), pp. 1207-1214 Costa, A.M., Lemos-Marini, S.H., Baptista, M.T., Morcillo, A.M., Maciel-Guerra, A.T., Guerra Jr., G., Bone mineralization in Turner syndrome: A transverse study of the determinant factors in 58 patients (2002) J Bone Miner Metab., 20, pp. 294-297 Suzigan, L.Z., Paiva E Silva, R.B., Lemos Marini, S.H., Baptista, M.T., Guerra Jr., G., Magna, L.A., A percepção da doença em portadoras da síndrome de Turner (2004) J Pediatr (Rio J), 80, pp. 309-314