Show simple item record

dc.contributor.author Marino, Roxana Marcela
dc.contributor.author Garrido, Natalia Perez
dc.contributor.author Costanzo, Mariana
dc.contributor.author Guercio, Gabriela Viviana
dc.contributor.author Juanes, Matías Hernan
dc.contributor.author Rocco, Carlos Alberto
dc.contributor.author Ramirez, Pablo
dc.contributor.author Warman, Diana M.
dc.contributor.author Ciaccio, Marta
dc.contributor.author Pena, Gladys
dc.contributor.author Feyling, José García
dc.contributor.author Miras, Mirta Beatriz
dc.contributor.author Rivarola, Marco Aurelio
dc.contributor.author Belgorosky, Alicia
dc.contributor.author Saraco, Nora Isabel
dc.date.available 2018-02-26T19:03:54Z
dc.date.issued 2015-02
dc.identifier.citation Marino, Roxana Marcela; Garrido, Natalia Perez; Costanzo, Mariana; Guercio, Gabriela Viviana; Juanes, Matías Hernan; et al.; Five new cases of 46, XX aromatase deficiency: Clinical follow-up from birth to puberty, a novel mutation, and a founder effect; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 100; 2; 2-2015; E301-E307
dc.identifier.issn 0021-972X
dc.identifier.uri http://hdl.handle.net/11336/37138
dc.description.abstract Context: Aromatase is the key enzyme for estrogen biosynthesis and is encoded by the CYP19A1 gene. Since 1991, several molecular CYP19A1 gene alterations associated with aromatase deficiency have been described in both sexes. Objective: The objective of the study was to detect CYP19A1 mutations in five aromatasedeficient 46, XX patients, to describe the clinical follow-up from birth to puberty and to perform haplotype analysis associated with the high-frequency c.628G>A splice mutation in Argentinean patients. Design: The design of the study was the sequencing of the coding and flanking intronic regions of the CYP19A1 gene in all patients and parents. Haplotype analysis of patients carrying the c.628G>A mutation was also performed. Patients: Clinical and biochemical findings in five new cases and one previously reported female aromatase-deficient patient (46, XX) are described. All patients presented with ambiguous genitalia at birth. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency as well as other steroidogenic defects were ruled out. Results: Phenotypic variability among the affected patients was found during follow-up. Direct sequencing of the CYP19A1 gene from genomic DNA revealed one novel mutation (c.574C>T) in two patients. In silico analysis predicted the c.574C>T mutation to be probably damaging. Four of six nonrelated patients presented with the c.628G>A splice mutation. Haplotype analysis showed that the c.628G>A splice mutation is associated with the same haplotype in our population. Conclusions: Increased knowledge on phenotypical variability found in female aromatase-deficient patients is useful to improve the detection rate in this disorder. In our population, a genetic founder defect has probably contributed to an increase in the incidence of the c.628G>A splice mutation.
dc.format application/pdf
dc.language.iso eng
dc.publisher Endocrine Society
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject Aromatase
dc.subject Aromatase deficiency
dc.subject Founder effect
dc.subject.classification Medicina Critica y de Emergencia
dc.subject.classification Medicina Clínica
dc.subject.classification CIENCIAS MÉDICAS Y DE LA SALUD
dc.title Five new cases of 46, XX aromatase deficiency: Clinical follow-up from birth to puberty, a novel mutation, and a founder effect
dc.type info:eu-repo/semantics/article
dc.type info:ar-repo/semantics/artículo
dc.type info:eu-repo/semantics/publishedVersion
dc.date.updated 2018-02-14T19:27:43Z
dc.journal.volume 100
dc.journal.number 2
dc.journal.pagination E301-E307
dc.journal.pais Estados Unidos
dc.description.fil Fil: Marino, Roxana Marcela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
dc.description.fil Fil: Garrido, Natalia Perez. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
dc.description.fil Fil: Costanzo, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
dc.description.fil Fil: Guercio, Gabriela Viviana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil Fil: Juanes, Matías Hernan. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil Fil: Rocco, Carlos Alberto. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil Fil: Ramirez, Pablo. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
dc.description.fil Fil: Warman, Diana M.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
dc.description.fil Fil: Ciaccio, Marta. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
dc.description.fil Fil: Pena, Gladys. Hospital Infantil Municipal de Cordoba; Argentina
dc.description.fil Fil: Feyling, José García. Hospital Regional de Concepcion; Argentina
dc.description.fil Fil: Miras, Mirta Beatriz. Hospital de Ninos de la Santisima Trinidad; Argentina
dc.description.fil Fil: Rivarola, Marco Aurelio. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil Fil: Belgorosky, Alicia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil Fil: Saraco, Nora Isabel. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.journal.title Journal of Clinical Endocrinology and Metabolism
dc.relation.alternativeid info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1210/jc.2014-2967
dc.relation.alternativeid info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/100/2/E301/2814966
dc.conicet.fuente individual


Archivos asociados

Icon
Blocked Acceso no disponible

This item appears in the following Collection(s)

Show simple item record

info:eu-repo/semantics/restrictedAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)