GAPO syndrome: a new syndromic cause of premature ovarian insufficiency

Author(s)

Benetti-Pinto, C. L. ; Ferreira, V. ; Andrade, L. ; Yela, D. A. ; De Meho, M. P.

• 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