Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism
Autor(a) principal: | |
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Data de Publicação: | 2001 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://repositorio.unifesp.br/11600/42665 http://www.archivesofpathology.org/doi/10.1043/0003-9985(2001)125<0652:MAHOGF>2.0.CO;2? |
Resumo: | Background.-Dysgenetic male pseudohermaphroditism (DMP) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent mullerian 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 antimullerian hormone, a decreased testosterone response to human chorionic gonadotropin stimulation without accumulation of testosterone precursors, and the presence of mullerian 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 fertility 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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Scolfaro, Márcia RibeiroCardinalli, Izilda AparecidaStuchi-Perez, Eliana GabasMello, Maricilda Palandi de [UNIFESP]Assumpcao, Juliana de GodoyBaptista, Maria Tereza MatiasSilva, Joaquim Murray BustorffMaciel-Guerra, Andrea TrevasGuerra Júnior, GilUniversidade Estadual de Campinas (UNICAMP)Universidade Federal de São Paulo (UNIFESP)2018-06-15T13:56:02Z2018-06-15T13:56:02Z2001-05-01Archives Of Pathology & Laboratory Medicine. Northfield: Coll Amer Pathologists, v. 125, n. 5, p. 652-656, 2001.0003-9985http://repositorio.unifesp.br/11600/42665http://www.archivesofpathology.org/doi/10.1043/0003-9985(2001)125<0652:MAHOGF>2.0.CO;2?10.1043/0003-9985(2001)125<0652:MAHOGF>2.0.CO;2?WOS:000168488700012Background.-Dysgenetic male pseudohermaphroditism (DMP) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent mullerian 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 antimullerian hormone, a decreased testosterone response to human chorionic gonadotropin stimulation without accumulation of testosterone precursors, and the presence of mullerian 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 fertility 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.Univ Estadual Campinas, Fac Ciencias Med, Grp Study Sex Determinat & Differentiat, BR-13083970 Campinas, SP, BrazilWeb of Science652-656engColl Amer PathologistsArchives Of Pathology & Laboratory MedicineMorphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditisminfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP11600/426652021-10-05 22:00:45.705metadata only accessoai:repositorio.unifesp.br:11600/42665Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652021-10-06T01:00:45Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism |
title |
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism |
spellingShingle |
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism Scolfaro, Márcia Ribeiro |
title_short |
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism |
title_full |
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism |
title_fullStr |
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism |
title_full_unstemmed |
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism |
title_sort |
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism |
author |
Scolfaro, Márcia Ribeiro |
author_facet |
Scolfaro, Márcia Ribeiro Cardinalli, Izilda Aparecida Stuchi-Perez, Eliana Gabas Mello, Maricilda Palandi de [UNIFESP] Assumpcao, Juliana de Godoy Baptista, Maria Tereza Matias Silva, Joaquim Murray Bustorff Maciel-Guerra, Andrea Trevas Guerra Júnior, Gil |
author_role |
author |
author2 |
Cardinalli, Izilda Aparecida Stuchi-Perez, Eliana Gabas Mello, Maricilda Palandi de [UNIFESP] Assumpcao, Juliana de Godoy Baptista, Maria Tereza Matias Silva, Joaquim Murray Bustorff Maciel-Guerra, Andrea Trevas Guerra Júnior, Gil |
author2_role |
author author author author author author author author |
dc.contributor.institution.none.fl_str_mv |
Universidade Estadual de Campinas (UNICAMP) Universidade Federal de São Paulo (UNIFESP) |
dc.contributor.author.fl_str_mv |
Scolfaro, Márcia Ribeiro Cardinalli, Izilda Aparecida Stuchi-Perez, Eliana Gabas Mello, Maricilda Palandi de [UNIFESP] Assumpcao, Juliana de Godoy Baptista, Maria Tereza Matias Silva, Joaquim Murray Bustorff Maciel-Guerra, Andrea Trevas Guerra Júnior, Gil |
description |
Background.-Dysgenetic male pseudohermaphroditism (DMP) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent mullerian 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 antimullerian hormone, a decreased testosterone response to human chorionic gonadotropin stimulation without accumulation of testosterone precursors, and the presence of mullerian 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 fertility 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. |
publishDate |
2001 |
dc.date.issued.fl_str_mv |
2001-05-01 |
dc.date.accessioned.fl_str_mv |
2018-06-15T13:56:02Z |
dc.date.available.fl_str_mv |
2018-06-15T13:56:02Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
Archives Of Pathology & Laboratory Medicine. Northfield: Coll Amer Pathologists, v. 125, n. 5, p. 652-656, 2001. |
dc.identifier.uri.fl_str_mv |
http://repositorio.unifesp.br/11600/42665 http://www.archivesofpathology.org/doi/10.1043/0003-9985(2001)125<0652:MAHOGF>2.0.CO;2? |
dc.identifier.issn.none.fl_str_mv |
0003-9985 |
dc.identifier.doi.none.fl_str_mv |
10.1043/0003-9985(2001)125<0652:MAHOGF>2.0.CO;2? |
dc.identifier.wos.none.fl_str_mv |
WOS:000168488700012 |
identifier_str_mv |
Archives Of Pathology & Laboratory Medicine. Northfield: Coll Amer Pathologists, v. 125, n. 5, p. 652-656, 2001. 0003-9985 10.1043/0003-9985(2001)125<0652:MAHOGF>2.0.CO;2? WOS:000168488700012 |
url |
http://repositorio.unifesp.br/11600/42665 http://www.archivesofpathology.org/doi/10.1043/0003-9985(2001)125<0652:MAHOGF>2.0.CO;2? |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.none.fl_str_mv |
Archives Of Pathology & Laboratory Medicine |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
652-656 |
dc.publisher.none.fl_str_mv |
Coll Amer Pathologists |
publisher.none.fl_str_mv |
Coll Amer Pathologists |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
instacron_str |
UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
collection |
Repositório Institucional da UNIFESP |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
|
_version_ |
1802764175077801984 |