Human Aromatase Deficiency

Autores
Guercio, Gabriela Viviana; Saraco, Nora Isabel; Costanzo, Mariana; Marino, Roxana Marcela; Belgorosky, Alicia
Año de publicación
2018
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Several molecular CYP19A1 gene alterations associated with cytochrome P450 aromatase (cP450arom) deficiency have been describedin both females and males. This has contributed considerably to the understanding of cP450arom activity in different tissues, influencingsexual differentiation, patterns of gonadotropin secretion by the hypothalamic?pituitary axis, reproductive capacity, lipid metabolism,insulin sensitivity, and skeletal maturation and growth. Studies of aromatase deficiency in humans were complemented with studies inmouse knockout models that demonstrated the role of estrogens in several tissues. In this article, molecular studies, the clinical phenotypicvariations throughout life in both sexes, gonadal function, fertility, and gender identity are addressed.
Fil: Guercio, Gabriela Viviana. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Saraco, Nora Isabel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Costanzo, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Marino, Roxana Marcela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Belgorosky, Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Materia
HUMAN AROMATASE
PITUITARY
GONADAL
PUBERTY
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/103177
Acceder
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repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Human Aromatase DeficiencyGuercio, Gabriela VivianaSaraco, Nora IsabelCostanzo, MarianaMarino, Roxana MarcelaBelgorosky, AliciaHUMAN AROMATASEPITUITARYGONADALPUBERTYhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Several molecular CYP19A1 gene alterations associated with cytochrome P450 aromatase (cP450arom) deficiency have been describedin both females and males. This has contributed considerably to the understanding of cP450arom activity in different tissues, influencingsexual differentiation, patterns of gonadotropin secretion by the hypothalamic?pituitary axis, reproductive capacity, lipid metabolism,insulin sensitivity, and skeletal maturation and growth. Studies of aromatase deficiency in humans were complemented with studies inmouse knockout models that demonstrated the role of estrogens in several tissues. In this article, molecular studies, the clinical phenotypicvariations throughout life in both sexes, gonadal function, fertility, and gender identity are addressed.Fil: Guercio, Gabriela Viviana. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Saraco, Nora Isabel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Costanzo, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Marino, Roxana Marcela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Belgorosky, Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaBiomedical Research Press Ltd2018-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/103177Guercio, Gabriela Viviana; Saraco, Nora Isabel; Costanzo, Mariana; Marino, Roxana Marcela; Belgorosky, Alicia; Human Aromatase Deficiency; Biomedical Research Press Ltd; Biomedical Research; 5; 1-2018; 532-5490388-61071880-313XCONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/B9780128012383652121info:eu-repo/semantics/altIdentifier/doi/10.1016/B978-0-12-801238-3.65212-1info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-22T11:47:07Zoai:ri.conicet.gov.ar:11336/103177instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-22 11:47:07.794CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Human Aromatase Deficiency
title Human Aromatase Deficiency
spellingShingle Human Aromatase Deficiency
Guercio, Gabriela Viviana
HUMAN AROMATASE
PITUITARY
GONADAL
PUBERTY
title_short Human Aromatase Deficiency
title_full Human Aromatase Deficiency
title_fullStr Human Aromatase Deficiency
title_full_unstemmed Human Aromatase Deficiency
title_sort Human Aromatase Deficiency
dc.creator.none.fl_str_mv Guercio, Gabriela Viviana
Saraco, Nora Isabel
Costanzo, Mariana
Marino, Roxana Marcela
Belgorosky, Alicia
author Guercio, Gabriela Viviana
author_facet Guercio, Gabriela Viviana
Saraco, Nora Isabel
Costanzo, Mariana
Marino, Roxana Marcela
Belgorosky, Alicia
author_role author
author2 Saraco, Nora Isabel
Costanzo, Mariana
Marino, Roxana Marcela
Belgorosky, Alicia
author2_role author
author
author
author
dc.subject.none.fl_str_mv HUMAN AROMATASE
PITUITARY
GONADAL
PUBERTY
topic HUMAN AROMATASE
PITUITARY
GONADAL
PUBERTY
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Several molecular CYP19A1 gene alterations associated with cytochrome P450 aromatase (cP450arom) deficiency have been describedin both females and males. This has contributed considerably to the understanding of cP450arom activity in different tissues, influencingsexual differentiation, patterns of gonadotropin secretion by the hypothalamic?pituitary axis, reproductive capacity, lipid metabolism,insulin sensitivity, and skeletal maturation and growth. Studies of aromatase deficiency in humans were complemented with studies inmouse knockout models that demonstrated the role of estrogens in several tissues. In this article, molecular studies, the clinical phenotypicvariations throughout life in both sexes, gonadal function, fertility, and gender identity are addressed.
Fil: Guercio, Gabriela Viviana. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Saraco, Nora Isabel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Costanzo, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Marino, Roxana Marcela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Belgorosky, Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
description Several molecular CYP19A1 gene alterations associated with cytochrome P450 aromatase (cP450arom) deficiency have been describedin both females and males. This has contributed considerably to the understanding of cP450arom activity in different tissues, influencingsexual differentiation, patterns of gonadotropin secretion by the hypothalamic?pituitary axis, reproductive capacity, lipid metabolism,insulin sensitivity, and skeletal maturation and growth. Studies of aromatase deficiency in humans were complemented with studies inmouse knockout models that demonstrated the role of estrogens in several tissues. In this article, molecular studies, the clinical phenotypicvariations throughout life in both sexes, gonadal function, fertility, and gender identity are addressed.
publishDate 2018
dc.date.none.fl_str_mv 2018-01
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/103177
Guercio, Gabriela Viviana; Saraco, Nora Isabel; Costanzo, Mariana; Marino, Roxana Marcela; Belgorosky, Alicia; Human Aromatase Deficiency; Biomedical Research Press Ltd; Biomedical Research; 5; 1-2018; 532-549
0388-6107
1880-313X
CONICET Digital
CONICET
url http://hdl.handle.net/11336/103177
identifier_str_mv Guercio, Gabriela Viviana; Saraco, Nora Isabel; Costanzo, Mariana; Marino, Roxana Marcela; Belgorosky, Alicia; Human Aromatase Deficiency; Biomedical Research Press Ltd; Biomedical Research; 5; 1-2018; 532-549
0388-6107
1880-313X
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/B9780128012383652121
info:eu-repo/semantics/altIdentifier/doi/10.1016/B978-0-12-801238-3.65212-1
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Biomedical Research Press Ltd
publisher.none.fl_str_mv Biomedical Research Press Ltd
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 12.982451

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