FRAGILE-X SYNDROME PREMATURE OVARIAN INSUFFICIENCY: IS IT TIME TO REAPPRAISAL ITS SCREENING? é hora de avaliar a triagem?

• Autor(a) principal: Mansur Kuba, Valesca
• Data de Publicação: 2022
• Outros Autores: Escocard, Carlos Eduardo, da Silva, Lucas Monteiro, Yuri Mansur Kuba, Liana
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Revista Científica da Faculdade de Medicina de Campos
• Texto Completo: https://www.fmc.br/ojs/index.php/RCFMC/article/view/591
• topic: Fragile x syndrome, premature ovarian insufficiency, infertility, anti-Müllerian hormone, follicle-stimulating hormone.

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.