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dc.contributor.author
Josso, Nathalie
dc.contributor.author
Rey, Rodolfo Alberto
dc.contributor.author
Picard, Jean-Yves
dc.date.available
2019-01-10T15:13:21Z
dc.date.issued
2012-06
dc.identifier.citation
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
dc.identifier.issn
1526-8004
dc.identifier.uri
http://hdl.handle.net/11336/67893
dc.description.abstract
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Thieme Medical Publ Inc
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Ambiguous Genitalia
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Steroidogenesis
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Testis Differentiation
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Medicina Critica y de Emergencia
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Medicina Clínica
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CIENCIAS MÉDICAS Y DE LA SALUD
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Inmunología
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Medicina Básica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Testicular anti-müllerian hormone: Clinical applications in DSD
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2019-01-09T17:48:24Z
dc.journal.volume
30
dc.journal.number
5
dc.journal.pagination
364-373
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Nueva York
dc.description.fil
Fil: Josso, Nathalie. Inserm; Francia
dc.description.fil
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
dc.description.fil
Fil: Picard, Jean-Yves. Inserm; Francia
dc.journal.title
Seminars In Reproductive Medicine
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://dx.doi.org/10.1055/s-0032-1324719
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0032-1324719
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