Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives

Fragile X premutations are known to be a risk factor for diminished ovarian function at a relatively young age. We studied endocrine profiles of female fragile X family members (n = 79) at risk of premature ovarian failure (POF). Of these 79 women aged 40 IU/l, the threshold that defines POF. We con...

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Bibliographic Details
Published in:Human reproduction (Oxford) 2001-03, Vol.16 (3), p.457-462
Main Authors: Hundscheid, Rubin D.L., Braat, Didi D.M., Kiemeney, Lambertus A.L.M., Smits, Arie P.T., Thomas, Chris M.G.
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Contraceptives, Oral - pharmacology
diminished ovarian reserve
Female
Follicle Stimulating Hormone - blood
fragile X premutation
Fragile X Syndrome - blood
Fragile X Syndrome - genetics
FSH
Fundamental and applied biological sciences. Psychology
Heterozygote
Hormone metabolism and regulation
Humans
inhibin B
Mammalian female genital system
Menstrual Cycle - blood
Mutation
Osmolar Concentration
premature ovarian failure
Primary Ovarian Insufficiency - blood
Primary Ovarian Insufficiency - genetics
Vertebrates: reproduction
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Summary:Fragile X premutations are known to be a risk factor for diminished ovarian function at a relatively young age. We studied endocrine profiles of female fragile X family members (n = 79) at risk of premature ovarian failure (POF). Of these 79 women aged 40 IU/l, the threshold that defines POF. We confirmed that premutation carriers with menstrual cycles demonstrate premature ovarian dysfunction. However, we also found endocrine signs of unrecognized ovarian dysfunction in premutation carriers using oral contraceptives, despite endocrine alterations by oral contraceptives. Premutation carriers may have a poorer prognosis for future pregnancy, either achieved spontaneously or by assisted reproductive technology. We recommend that premutation carriers should be counselled not to wait too long if they wish to start a family.
ISSN:0268-1161
1460-2350
DOI:10.1093/humrep/16.3.457