Artículos de revistas
46,xy And 45,x/46,xy Testicular Dysgenesis: Similar Gonadal And Genital Phenotype, Different Prognosis [disgenesias Testiculares 46,xy E 45,x/46,xy: Fenótipo Genital E Gonadal Semelhante, Prognóstico Distinto]
Registro en:
Arquivos Brasileiros De Endocrinologia E Metabologia. , v. 54, n. 3, p. 331 - 334, 2010.
42730
2-s2.0-77953608403
Autor
de Andrade J.G.R.
Guerra-Junior G.
Maciel-Guerra A.T.
Institución
Resumen
The objective of this study was to describe the change in diagnosis and prognosis of a child with testicular dysgenesis and 46,XY karyotype after detection of a 45,X cell line and to discuss the difficulties caused by the terms mixed gonadal dysgenesis (MGD) and XY partial gonadal dysgenesis (XYPGD). One case was reported including clinical and laboratory findings of a child of 41-day-old infant with 1.3-cm phallus, penoscrotal hypospadias and left prepubertal testis. Karyotype 46,XY (16 cells), normal hormone levels. Right streak gonad, epididymis and mülle-rian remnants were removed; initial diagnosis was XYPGD. Persistent growth retardation led to further cytogenetic analysis (50 cells) and detection of a 45,X cell line. Detection of a 45,X line-age changed both the diagnosis to MGD and also the prognosis. The number of cells analyzed in karyotyping is critical. Use of MGD and XYPGD to designate both a histological picture and a syndromic diagnosis, results in lack of emphasis on clinical differences between 46,XY and 45,X/46,XY subjects. 54 3 331 334 Hughes, I.A., Houk, C., Ahmed, S.F., Lee, P.A., LWPES1/ESPE2 Consensus Group. Consensus statement on management of intersex disorders (2006) Arch Dis Child, 91, pp. 554-562 Lee, P.A., Houk, C.P., Ahmed, S.F., Hughes, I.A., International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex (2006) Pediatrics, 118, pp. e488-500 Scolfaro, M.R., Cardinalli, I.A., Guerra-Junior, G., A importância da análise histológica morfométrica gonadal na identificação da gônada disgenética (2003) Arq Bras End Metab, 47, pp. 128-134 Chemes, H., Muzulin, P.M., Venara, M.C., Mulhmann Mdel, C., Martínez, M., Gamboni, M., Early manifestations of testicular dysgenesis in children: Pathological phenotypes, karyotype correlations and precursor stages of tumour development (2003) APMIS, 111, pp. 12-23 Lipay, M.V.N., Bianco, B., Verreschi, I.T.N., Disgenesias gonadais e tumores: Aspectos genéticos e clínicos (2005) Arq Bras End Metab, 49, pp. 60-70 Rohatgi, M., Gupta, D.K., Menon, P.S., Verma, I.C., Mathur, M., Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism - a critical analysis (1992) Indian J Pediatr, 59, pp. 487-500 Telvi, L., Lebbar, A., del Pino, O., Barbet, J.P., Chaussain JL. 45,X/46,XY mosaicism: Report of 27 cases (1999) Pediatrics, 104, pp. 304-308 Bondy, C.A., Turner Syndrome Study Group. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group (2007) J Clin Endocrinol Metab, 92, pp. 10-25 Hjerrild, B.E., Mortensen, K.H., Gravholt, C.H., Turner syndrome and clinical treatment (2008) Br Med Bull, 86, pp. 77-93 Hook, E.B., Exclusion of chromosome mosaicism: Tables of 90 percent, 95 percent and 99 percent confidence limits and comments on use (1977) Am J Hum Genet, 29, pp. 94-97 Takahashi, I., Miyamoto, J., Hasegawa, Y., Limitations of G-banding karyotype analysis with peripheral lymphocytes in diagnosing mixed gonadal dysgenesis (2006) Clin Ped Endocrinol, 15, pp. 109-115 Salmasi, A.H., Wisniewski, A.B., Novak, T.E., Gearhart, J.P., Migeon, C.J., Lakshmanan, Y., Prostate screening in patients with 46,XY disorders of sex development - Is it necessary? (2008) J Urol, 180, pp. 1422-1425