Fragile X primary ovarian insufficiency
Keywords:
FMR1, Fragile X Syndrome, Primary ovarian insufficiency, Trinucleotide Repeat Expansion, Genetic Counseling, Infertility, FemaleArticle Sidebar
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Dear Editor,
We read with great attention the review article on Fragile X Syndrome in children (1) recently published in Colombia Médica. However, we would emphasize the importance of recognizing and addressing the peculiar Fragile X-associated primary ovarian insufficiency.
Clinicians should be aware of this peculiar association of Fragile X with POI to prevent delays in diagnosing and initiating appropriate hormone replacement therapy.
Nada Boutrid , University Ferhat Abbas of Setif
https://orcid.org/0000-0002-9697-2773
University of Setif, Faculty of Medicine, LMCVGN Research Laboratory, Associate Professor, Algeria.
Hakim Rahmoune, University Ferhat Abbas of Setif
https://orcid.org/0000-0002-9604-3675
University of Setif, Faculty of Medicine, LMCVGN Research Laboratory, Assistant Professor, Algeria.
1. Acero-Garcés DO, Saldarriaga W, Cabal-Herrera AM, Rojas CA, Hagerman RJ. Fragile X Syndrome in children. Colomb Med (Cali). 2023;54(2):e4005089. https://doi.org/10.25100/cm.v54i2.5089. PMID: 37664646; PMCID: PMC10469670.
2. Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, et al. Insight and recommendations for fragile X-premutation-associated conditions from the fifth international conference on FMR1 premutation. Cells. 2023;12(18):2330. https://doi.org/10.3390/cells12182330. PMID: 37759552; PMCID: PMC10529056.
3. Hipp HS, Charen KH, Spencer JB, Allen EG, Sherman SL. Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI). Menopause. 2016;23(9):993-9. https://doi.org/10.1097/GME.0000000000000658. PMID: 27552334; PMCID: PMC4998843.
4. Allen EG, Charen K, Hipp HS, Shubeck L, Amin A, He W, et al. Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size. Genet Med. 2021;23(9):1648-55. https://doi.org/10.1038/s41436-021-01177-y. PMID: 33927378; PMCID: PMC8460441.
5. Silvén H, Savukoski SM, Pesonen P, Pukkala E, Ojaniemi M, Gissler M, et al. Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study. Hum Reprod. 2023;38(6):1224-30. https://doi.org/10.1093/humrep/dead066. PMID: 37018629; PMCID: PMC10233236.
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