Morphometry And Histology Of Gonads From 13 Children With Dysgenetic Male Pseudohermaphroditism

dc.creatorScolfaro M.R.
dc.creatorCardinalli I.A.
dc.creatorStuchi-Perez E.G.
dc.creatorDe Mello M.P.
dc.creatorDe Godoy Assumpcao J.
dc.creatorBaptista M.T.M.
dc.creatorSilva J.M.B.
dc.creatorMaciel-Guerra A.T.
dc.creatorGuerra Jr. G.
dc.date2001
dc.date2015-06-26T14:42:35Z
dc.date2015-11-26T14:15:35Z
dc.date2015-06-26T14:42:35Z
dc.date2015-11-26T14:15:35Z
dc.date.accessioned2018-03-28T21:16:30Z
dc.date.available2018-03-28T21:16:30Z
dc.identifier
dc.identifierArchives Of Pathology And Laboratory Medicine. , v. 125, n. 5, p. 652 - 656, 2001.
dc.identifier39985
dc.identifier
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-0035022772&partnerID=40&md5=a01de155cf0d70315a3cb6e30b641602
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/94869
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/94869
dc.identifier2-s2.0-0035022772
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1242839
dc.descriptionBackground. - Dysgenetic male pseudohermaphroditism (DMP) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent müllerian structures, and cryptorchidism in individuals with a 46,XY karyotype. However, the histologic criteria for the diagnosis of DMP are poorly established. Objective. - To determine gonadal histology in children with DMP. Patients and Methods. - Between 1996 and 1998, 13 patients with DMP were evaluated on our service. The clinical diagnosis of DMP was based on a 46,XY karyotype, sex ambiguity, high levels of follicle-stimulating hormone and low levels Of antimüllerian hormone, a decreased testosterone response to human chorionic gonadotropin stimulation without accumulation of testosterone precursors, and the presence of müllerian structures. Molecular sequencing the HMGbox region of the SRY gene did not reveal any mutations. Biopsies were performed for 22 of 26 gonads (patient age at the time of biopsy, 16 months to 10 years). Conventional microscopy was used to evaluate mean tubular diameter, tubular fertility index, and number of Sertoli cells per tubular profile. Results. - All 26 gonads were located outside of the labioscrotal folds. Their histologic features varied from only a reduction in tubular size to features of a streak gonad. Five of the 22 gonads grossly resembled a streak gonad. The mean tubular diameter was severely reduced (>30% reduction relative to the normal tubular diameter for the patient's age) in 4 gonads, markedly reduced (10%-30%) in 11 gonads, slightly reduced (<10%) in one gonad, and normal in one gonad. The tubular fertililty index, expressed as the percentage of tubular profiles containing germ cells, was severely reduced (<30% of normal values) in 9 gonads, markedly reduced (50%-30%) in 2 gonads, and normal in 6 gonads. The number of Sertoli cells per tubular profile was elevated in 16 gonads and normal in one gonad. Thin tubules surrounded by fibrous tissue were occasionally observed. Conclusion. - The histologic findings confirmed the clinical diagnosis of DMP in every patient in the present series. However, gonadal histology was variable, and careful morphometric evaluation may be necessary to establish the diagnosis.
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dc.descriptionRobboy, S.J., Miller, T., Donahoe, P.K., Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: Perspective derived from clinicopathologic analysis of twenty-one cases (1982) Hum Pathol, 13, pp. 700-716
dc.descriptionTroche, V., Hernandez, E., Neoplasia arising in dysgenetic gonads (1986) Obstet Gynecol Surv, 41, pp. 74-79
dc.descriptionKrasna, I.H., Lee, M.L., Smilow, P., Sciorra, L., Eierman, L., Risk of malignancy in bilateral streak gonads: The role of the Y chromosome (1992) J Pediatr Surg, 27, pp. 1376-1380
dc.descriptionRohatgi, 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
dc.descriptionRey, R.A., Belville, C., Nhou-Fékété, C., Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement (1999) J Clin Endocrinol Metab, 84, pp. 627-631
dc.descriptionStuchi-Perez, E.G., Lukas-Croisier, C., Castro, M., Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia (2000) J Pediatr Endocrinol Metab, 13, pp. 605-612
dc.descriptionChang, H.J., Clark, R.D., Bachman, H., The phenotype of 45,X/46,XY mosaicism: An analysis of 92 prenatally diagnosed cases (1990) Am J Hum Genet, 46, pp. 156-167
dc.descriptionRajfer, J., Walsh, P.C., Mixed gonadal dysgenesis: Dysgenetic male pseudoher-maphroditism (1981) The Intersex Child: Pediatric and Adolescent Endocrinology, pp. 103-115. , Josso N, ed. Basel, Switzerland: S. Karger
dc.descriptionBorer, J.G., Nitti, V.W., Glassberg, K.I., Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism (1995) J Urol, 153, pp. 1267-1273
dc.descriptionDonahoe, P.K., Crawford, J.D., Hendren, W.H., Mixed gonadal dysgenesis: Pathogenesis and management (1979) J Pediatr Surg, 14, pp. 287-300
dc.descriptionPelletier, J., Bruening, W., Kashtan, C.E., Germline mutations in the Wilms' tumor supressor gene are associated with abnormal urogenital development in Denys-Drash syndrome (1991) Cell, 67, pp. 437-1147
dc.descriptionCarré-Éusebe, D., Imbeaud, S., Harbison, M., New, M.I., Josso, N., Picard, J.Y., Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family (1992) Hum Genet, 90, pp. 389-394
dc.descriptionNistal, M., Paniagua, R., Non-neoplastic diseases of the testis (1996) Urologic Surgical Pathology, pp. 458-565. , Bostiwick DG, Eble JN, eds. St Louis, Mo: Mosby
dc.descriptionLennox, B., Ahmad, K.M., Mack, W.S., A method for determining the relative total length of the tubules in the testis (1970) J Pathol, 102, pp. 229-238
dc.descriptionJimenez, R., Sanchez, A., Burgos, M., Dias De La Guardia, R.C., Puzzling out the genetics of mammalian sex determination (1996) Trends Genet, 12, pp. 164-166
dc.descriptionMüller, J., Skakkebaek, N.F., Quantification of germ cells and seminiferous tubules by stereological examination of testicles from 50 boys who suffered from sudden death (1983) Int J Androl, 6, pp. 143-156
dc.descriptionCortes, D., Müller, J., Skakkebaek, N.E., Proliferation of Sertoli cells during development of the human testis assessed by stereological methods (1987) Int J Androl, 10, pp. 589-596
dc.descriptionNistal, M., Abaurrea, M.A., Paniagua, R., Morphological and histometric study on the human Sertoli cell from birth to the onset of puberty (1982) J Anat, 14, pp. 351-363
dc.descriptionVan Niekerk, W.A., Retief, A.E., The gonads of human true hermaphrodites (1981) Hum Genet, 58, pp. 117-122
dc.descriptionGuerra Jr., G., De Mello, M.P., Assumpção, J.G., True hermaphrodites in the southeastern region of Brazil: A different cytogenetic and gonadal profile (1998) J Pediatr Endocrinol Metab, 11, pp. 519-524
dc.descriptionQuigley, C.A., De Bellis, A., Marschke, K.B., El-Awady, M.K., Wilson, E.M., French, F.S., Androgen receptor defects: Historical, clinical and molecular perspectives (1995) Endocr Rev, 16, pp. 271-321
dc.languageen
dc.publisher
dc.relationArchives of Pathology and Laboratory Medicine
dc.rightsaberto
dc.sourceScopus
dc.titleMorphometry And Histology Of Gonads From 13 Children With Dysgenetic Male Pseudohermaphroditism
dc.typeArtículos de revistas


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