FRAGILE-X SYNDROME PREMATURE OVARIAN INSUFFICIENCY: IS IT TIME TO REAPPRAISAL ITS SCREENING?

Abstract

AbstractPremature ovarian insufficiency is idiopathic in 90% of cases and fragile x syndrome occurs in 2% of sporadic cases, chiefly in pre mutation carriers. It can be a devastating diagnosis since prevents them of childbearing. Current guidelines recommends pre mutation carrier screening for women with a family history of fragile x syndrome-related disorders, intellectual disability, or unexplained premature ovarian failure, when they consider pregnancy, although several phenotypes exist. This article describes fragile x syndrome ovarian insufficiency with migraine and depression, as well as reappraisal its management. A 35 year-old woman had migraine and regular menses since menarche until premature ovarian insufficiency appeared after oral contraceptive withdrawal, at 33 year-old. The FSH values varied from 10 to 165 mUI/mL. As her father start having ataxia after 55 years-old, she performed molecular study, which showed 94 repeat CGG. However, she could not spontaneous childbearing, because the anti-Müllerian hormone value was 0,16ng/dL. This made her so depressive to the point of seeking psychiatric treatment. This supports a differentiated approach through early pre mutation carrier screening and monitoring of ovarian function, aiming at pregnancy, or the institution of hormone therapy when necessary.