| Full text | |
| Author(s): |
Benetti-Pinto, C. L.
;
Ferreira, V.
;
Andrade, L.
;
Yela, D. A.
;
De Meho, M. P.
Total Authors: 5
|
| Document type: | Journal article |
| Source: | CLIMACTERIC; v. 19, n. 6, p. 594-598, DEC 2016. |
| Web of Science Citations: | 6 |
| Abstract | |
Premature 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. (AU) | |
| FAPESP's process: | 12/23669-0 - Analysis of clinical, laboratory and metabolic women with premature ovarian failure |
| Grantee: | Valeska Beatrice Ferreira |
| Support Opportunities: | Scholarships in Brazil - Scientific Initiation |