GAPO syndrome: a new syndromic cause of premature ovarian insufficiency. (1st November 2016)

• Record Type: Journal Article
• Authors: Benetti-Pinto, C. L.; Ferreira, V.; Andrade, L.; Yela, D. A.; De Mello, M. P.
• Is Part Of: Climacteric. Volume 19:Number 6(2016)
• Page Start: 594
• Page End: 598
• Publication Date: 2016-11-01
• Subjects: GAPO syndrome -- premature ovarian insufficiency -- premature ovarian failure -- ANTXR1 gene -- extracellular matrix dysregulation; Menopause -- Periodicals; Menopause -- Hormone therapy -- Periodicals; Menopause -- Periodicals; Estrogen Replacement Therapy -- Periodicals; Gynecology -- Periodicals; Societies, Medical -- Periodicals; 612.665
• DOI: 10.1080/13697137.2016.1200551
• Languages: English
• ISSNs: 1369-7137

Abstract

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.