Artículos de revistas
Gapo Syndrome: A New Syndromic Cause Of Premature Ovarian Insufficiency
Registration in:
Climateric. Taylor & Francis Ltd, v. 19, p. 594 - 598, 2016.
1369-7137
1473-0804
WOS:000389101900015
10.1080/13697137.2016.1200551
Author
Benetti-Pinto
C. L.; Ferreira
V.; Andrade
L.; Yela
D. A.; De Meho
M. P.
Institutions
Abstract
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) 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. 19 6 594 598 FAPESP (Sao Paulo Research Foundation), Brazil [2012/23669-0] Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)