GAPO syndrome: a new syndromic cause of premature ovarian insufficiency.
Climacteric
; 19(6): 594-598, 2016 Dec.
Article
em En
| MEDLINE
| ID: mdl-27426988
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.
Palavras-chave
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Atrofias Ópticas Hereditárias
/
Insuficiência Ovariana Primária
/
Alopecia
/
Transtornos do Crescimento
/
Anodontia
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Climacteric
Assunto da revista:
GINECOLOGIA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Brasil