Testicular anti-müllerian hormone: Clinical applications in DSD

Autores
Josso, Nathalie; Rey, Rodolfo Alberto; Picard, Jean-Yves
Año de publicación
2012
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Male fetal sexual differentiation of the genitalia is driven by Leydig cell-secreted androgens and Sertoli cell-secreted anti-Müllerian hormone (AMH). Disorders of sex development (DSD) may be due to abnormal morphogenesis of genital primordia or to defective testicular hormone secretion or action. In dysgenetic DSD, due to an early fetal-onset primary hypogonadism affecting Leydig and Sertoli cells, the fetal gonads are incapable of producing normal levels of androgens and AMH. In non-dysgenetic DSD, either Leydig cells or Sertoli cells are affected but not both. Persistent Müllerian duct syndrome (PMDS) may result from Sertoli cell-specific dysfunction due to mutations in the AMH gene; these patients have Fallopian tubes and uterus, but male external genitalia. In DSD due to insensitivity to testicular hormones, fetal Leydig and Sertoli cell function is normal. Defective androgen action is associated with female or ambiguous genitalia whereas insensitivity to AMH results in PMDS with normal serum AMH. Clinical and biological features of PMDS due to mutations in the genes coding for AMH or the AMH receptor, as well as genetic aspects and clinical management are discussed. © 2012 by Thieme MedicalPublishers, Inc., 333 Seventh Avenue,New York, NY 10001, USA.
Fil: Josso, Nathalie. Inserm; Francia
Fil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina. Universidad de Buenos Aires. Facultad de Medicina; Argentina
Fil: Picard, Jean-Yves. Inserm; Francia
Materia
Ambiguous Genitalia
Steroidogenesis
Testis Differentiation
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:11336/67893
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/67893
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Testicular anti-müllerian hormone: Clinical applications in DSDJosso, NathalieRey, Rodolfo AlbertoPicard, Jean-YvesAmbiguous GenitaliaSteroidogenesisTestis Differentiationhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3https://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Male fetal sexual differentiation of the genitalia is driven by Leydig cell-secreted androgens and Sertoli cell-secreted anti-Müllerian hormone (AMH). Disorders of sex development (DSD) may be due to abnormal morphogenesis of genital primordia or to defective testicular hormone secretion or action. In dysgenetic DSD, due to an early fetal-onset primary hypogonadism affecting Leydig and Sertoli cells, the fetal gonads are incapable of producing normal levels of androgens and AMH. In non-dysgenetic DSD, either Leydig cells or Sertoli cells are affected but not both. Persistent Müllerian duct syndrome (PMDS) may result from Sertoli cell-specific dysfunction due to mutations in the AMH gene; these patients have Fallopian tubes and uterus, but male external genitalia. In DSD due to insensitivity to testicular hormones, fetal Leydig and Sertoli cell function is normal. Defective androgen action is associated with female or ambiguous genitalia whereas insensitivity to AMH results in PMDS with normal serum AMH. Clinical and biological features of PMDS due to mutations in the genes coding for AMH or the AMH receptor, as well as genetic aspects and clinical management are discussed. © 2012 by Thieme MedicalPublishers, Inc., 333 Seventh Avenue,New York, NY 10001, USA.Fil: Josso, Nathalie. Inserm; FranciaFil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina. Universidad de Buenos Aires. Facultad de Medicina; ArgentinaFil: Picard, Jean-Yves. Inserm; FranciaThieme Medical Publ Inc2012-06info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/67893Josso, Nathalie; Rey, Rodolfo Alberto; Picard, Jean-Yves; Testicular anti-müllerian hormone: Clinical applications in DSD; Thieme Medical Publ Inc; Seminars In Reproductive Medicine; 30; 5; 6-2012; 364-3731526-8004CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1055/s-0032-1324719info:eu-repo/semantics/altIdentifier/url/https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0032-1324719info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T15:01:52Zoai:ri.conicet.gov.ar:11336/67893instacron: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:34982025-10-15 15:01:53.22CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Testicular anti-müllerian hormone: Clinical applications in DSD
title Testicular anti-müllerian hormone: Clinical applications in DSD
spellingShingle Testicular anti-müllerian hormone: Clinical applications in DSD
Josso, Nathalie
Ambiguous Genitalia
Steroidogenesis
Testis Differentiation
title_short Testicular anti-müllerian hormone: Clinical applications in DSD
title_full Testicular anti-müllerian hormone: Clinical applications in DSD
title_fullStr Testicular anti-müllerian hormone: Clinical applications in DSD
title_full_unstemmed Testicular anti-müllerian hormone: Clinical applications in DSD
title_sort Testicular anti-müllerian hormone: Clinical applications in DSD
dc.creator.none.fl_str_mv Josso, Nathalie
Rey, Rodolfo Alberto
Picard, Jean-Yves
author Josso, Nathalie
author_facet Josso, Nathalie
Rey, Rodolfo Alberto
Picard, Jean-Yves
author_role author
author2 Rey, Rodolfo Alberto
Picard, Jean-Yves
author2_role author
author
dc.subject.none.fl_str_mv Ambiguous Genitalia
Steroidogenesis
Testis Differentiation
topic Ambiguous Genitalia
Steroidogenesis
Testis Differentiation
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Male fetal sexual differentiation of the genitalia is driven by Leydig cell-secreted androgens and Sertoli cell-secreted anti-Müllerian hormone (AMH). Disorders of sex development (DSD) may be due to abnormal morphogenesis of genital primordia or to defective testicular hormone secretion or action. In dysgenetic DSD, due to an early fetal-onset primary hypogonadism affecting Leydig and Sertoli cells, the fetal gonads are incapable of producing normal levels of androgens and AMH. In non-dysgenetic DSD, either Leydig cells or Sertoli cells are affected but not both. Persistent Müllerian duct syndrome (PMDS) may result from Sertoli cell-specific dysfunction due to mutations in the AMH gene; these patients have Fallopian tubes and uterus, but male external genitalia. In DSD due to insensitivity to testicular hormones, fetal Leydig and Sertoli cell function is normal. Defective androgen action is associated with female or ambiguous genitalia whereas insensitivity to AMH results in PMDS with normal serum AMH. Clinical and biological features of PMDS due to mutations in the genes coding for AMH or the AMH receptor, as well as genetic aspects and clinical management are discussed. © 2012 by Thieme MedicalPublishers, Inc., 333 Seventh Avenue,New York, NY 10001, USA.
Fil: Josso, Nathalie. Inserm; Francia
Fil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina. Universidad de Buenos Aires. Facultad de Medicina; Argentina
Fil: Picard, Jean-Yves. Inserm; Francia
description Male fetal sexual differentiation of the genitalia is driven by Leydig cell-secreted androgens and Sertoli cell-secreted anti-Müllerian hormone (AMH). Disorders of sex development (DSD) may be due to abnormal morphogenesis of genital primordia or to defective testicular hormone secretion or action. In dysgenetic DSD, due to an early fetal-onset primary hypogonadism affecting Leydig and Sertoli cells, the fetal gonads are incapable of producing normal levels of androgens and AMH. In non-dysgenetic DSD, either Leydig cells or Sertoli cells are affected but not both. Persistent Müllerian duct syndrome (PMDS) may result from Sertoli cell-specific dysfunction due to mutations in the AMH gene; these patients have Fallopian tubes and uterus, but male external genitalia. In DSD due to insensitivity to testicular hormones, fetal Leydig and Sertoli cell function is normal. Defective androgen action is associated with female or ambiguous genitalia whereas insensitivity to AMH results in PMDS with normal serum AMH. Clinical and biological features of PMDS due to mutations in the genes coding for AMH or the AMH receptor, as well as genetic aspects and clinical management are discussed. © 2012 by Thieme MedicalPublishers, Inc., 333 Seventh Avenue,New York, NY 10001, USA.
publishDate 2012
dc.date.none.fl_str_mv 2012-06
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/11336/67893
Josso, Nathalie; Rey, Rodolfo Alberto; Picard, Jean-Yves; Testicular anti-müllerian hormone: Clinical applications in DSD; Thieme Medical Publ Inc; Seminars In Reproductive Medicine; 30; 5; 6-2012; 364-373
1526-8004
CONICET Digital
CONICET
url http://hdl.handle.net/11336/67893
identifier_str_mv Josso, Nathalie; Rey, Rodolfo Alberto; Picard, Jean-Yves; Testicular anti-müllerian hormone: Clinical applications in DSD; Thieme Medical Publ Inc; Seminars In Reproductive Medicine; 30; 5; 6-2012; 364-373
1526-8004
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1055/s-0032-1324719
info:eu-repo/semantics/altIdentifier/url/https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0032-1324719
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 Thieme Medical Publ Inc
publisher.none.fl_str_mv Thieme Medical Publ Inc
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 13.22299

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