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Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation.

Tiphaine Le PoulennecSophie DubreuilMichael GrynbergNathalie Chabbert-BuffetNathalie SermondadeSalma FouratiJean-Pierre SiffroiDelphine HéronAnne Bachelot
Published in: Annales d'endocrinologie (2024)
This study shows the importance of early fertility preservation after diagnosis of FMR1 premutation in women, due to early deterioration of ovarian reserve. Genetic counseling is essential in these patients, as spontaneous pregnancies are not uncommon, even in cases of impaired ovarian reserve, and can lead to birth of affected children.
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