Gapo Syndrome: A New Syndromic Cause Of Premature Ovarian Insufficiency

dc.creatorBenetti-Pinto
dc.creatorC. L.; Ferreira
dc.creatorV.; Andrade
dc.creatorL.; Yela
dc.creatorD. A.; De Meho
dc.creatorM. P.
dc.date2016
dc.datedez
dc.date2017-11-13T13:16:17Z
dc.date2017-11-13T13:16:17Z
dc.date.accessioned2018-03-29T05:53:36Z
dc.date.available2018-03-29T05:53:36Z
dc.identifierClimateric. Taylor & Francis Ltd, v. 19, p. 594 - 598, 2016.
dc.identifier1369-7137
dc.identifier1473-0804
dc.identifierWOS:000389101900015
dc.identifier10.1080/13697137.2016.1200551
dc.identifierhttp://www.tandfonline.com/doi/abs/10.1080/13697137.2016.1200551?journalCode=icmt20
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/327516
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1364541
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionPremature ovarian insufficiency has the following causes: genetic, autoimmune, metabolic, infectious, and iatrogenic dysfunctions (including radiotherapy, chemotherapy and surgery). However, premature ovarian insufficiency remains without a definite cause in a substantial number of cases. This article describes GAPO syndrome in association with premature ovarian insufficiency, as well as a novel ANTXR1 gene mutation. Histopathological study of the ovaries of a woman with hypergonadotropic hypogonadism revealed extensive deposition of hyaline extracellular material, with bilateral parenchymal atrophy and follicular depletion. Molecular study revealed a novel ANTXR1 gene mutation. The homozygous c.378 + 3A > G transition at the consensus donor splice site of intron 4 was identified. Our results support the involvement of ANTRX1 gene mutations in deregulated extracellular matrix. In addition, our study identified a novel ANTXR1 mutation causing GAPO syndrome, indicating it as a new cause of early loss of ovarian function.
dc.description19
dc.description6
dc.description594
dc.description598
dc.descriptionFAPESP (Sao Paulo Research Foundation), Brazil [2012/23669-0]
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.languageEnglish
dc.publisherTaylor & Francis Ltd
dc.publisherAbingdon
dc.relationClimateric
dc.rightsfechado
dc.sourceWOS
dc.subjectGapo Syndrome
dc.subjectPremature Ovarian Insufficiency
dc.subjectPremature Ovarian Failure
dc.subjectAntxr1 Gene
dc.subjectExtracellular Matrix Dysregulation
dc.titleGapo Syndrome: A New Syndromic Cause Of Premature Ovarian Insufficiency
dc.typeArtículos de revistas


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