The relationship between the number of CGG repeats and serum level of anti-Müllerian hormone in women without FMR1 premutation

Choe, Seung‐Ah; Kim, Chul; Lee, Joong Yeup; Kim, Chung Hyon; Hwang, Dae Hyun; Jee, Byung Chul

doi:10.1016/j.ejogrb.2013.05.002

Cited by 6 publications

(10 citation statements)

References 31 publications

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“…While some recent studies report no association of AMH with CGG repeat number [23,27], one paper reported a positive association, controlling for age, between AMH level and FMR1 repeat number among 197 Korean women at risk for DOR with the largest CGG repeat number of 51 [28]. In contrast, Gleicher et al reported that AMH was lower in women with 35-50 CGG (n=35) than in women with <35 repeats (n=122, p=0.025) [29].…”

Section: Discussionmentioning

confidence: 91%

Evidence of an age-related correlation of ovarian reserve and FMR1 repeat number among women with “normal” CGG repeat status

Gustin

Ding

Desai

et al. 2015

J Assist Reprod Genet

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Purpose The objective of this analysis is to examine the relationship between Fragile X Mental Retardation 1 gene (FMR1) cytosine-guanine-guanine (CGG) repeat number and ovarian reserve, with a particular focus exclusively on the range of CGG repeat number below the premutation (PM) range (<55 CGG repeats). Methods Our study included female patients who underwent assessment of FMR1 CGG repeat number and serum antiMullerian hormone (AMH) in 2009-2014. To examine the association between FMR1 repeat number and serum AMH, we created three summary measures of CGG repeat number for the two alleles-BSum,^BMax,^and BGap^(absolute difference). Using multivariable regression models, controlling for age, we then analyzed the impact of these summary measures on AMH.Results A total of 566 patients were included in our study. Using multivariable regression models, we found that the relationship between CGG repeat number and AMH differed depending on age. Specifically, in younger women, AMH increased by 7-8 % (Sum p<0.01, Max p=0.04) for every 1 unit increase in CGG repeat number. In contrast, starting at age 40, there was a 3 to 5 % decline in AMH for every 1 unit increase in CGG repeat number (Sum p<0.01, Max p=0.04). Conclusions This is the first study to report a statistically significant correlation of ovarian reserve and CGG repeat number in women with <55 CGG repeats. Although these women are generally considered to have a normal phenotype, our data suggest that increasing CGG repeat number within this normal range is associated with a more rapid decline in ovarian reserve.

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Section: Discussionmentioning

confidence: 91%

Evidence of an age-related correlation of ovarian reserve and FMR1 repeat number among women with “normal” CGG repeat status

Gustin

Ding

Desai

et al. 2015

J Assist Reprod Genet

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“…In contrast, one report found a positive rather than inverse association of AMH and CGG repeat. The population consisted of 197 Korean women "at high risk" of diminished ovarian function, either based on low AFC or family history of FXS (n=7) [2], none of whom carried the premutation. The FMR1 CGG repeats were≤51.…”

Section: Discussionmentioning

confidence: 99%

“…Given that FMR1 is associated with early ovarian aging and AMH is a common measure of ovarian reserve, it is logical to investigate AMH levels by FMR1 CGG repeat. The scant literature (six publications) on this topic is inconsistent, with some papers reporting an inverse association of AMH and FMR1 CGG repeat length [6,21,28], no association [3,13], and a positive association [2]. Our purpose was to use mathematical modeling to explore whether AMH, as a surrogate for follicular loss, might vary by FMR1 genotype in women diagnosed with DOR, after adjustment for age.…”

Section: Introductionmentioning

confidence: 99%

AMH in women with diminished ovarian reserve: potential differences by FMR1 CGG repeat level

Pastore

McMurry

Williams

et al. 2014

J Assist Reprod Genet

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“…In a study that combined FXS family data from The Netherlands and the US, premutation carriers were found to have lower AMH levels than non-carriers at all ages (multi-level modeling, p < 0.0001) (Spath et al, 2011); As expected, AMH declined with increasing age among both premutation carriers and non-carriers. One paper reported a positive association between AMH level and FMR1 repeat length after controlling for age: among 197 Korean women “at high risk” of diminished ovarian function, where the highest CGG repeat was 51 (Choe et al, 2013), a positive correlation was found between AMH and the CGG repeat length ( p = 0.008). Two recent papers reported no association: a recent report with 372 infertile women from all causes reported no association between AMH and the CGG repeat level (De Geyter et al, 2013), and the sample included some women with premutation and intermediate length alleles.…”

Section: Clinical Markers For Ovarian Reserve (Fsh and Amh) And Fmr1mentioning

confidence: 99%

The FMR1 gene, infertility, and reproductive decision-making: a review

Pastore

Johnson

2014

Front. Genet.

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The strongest association between FMR1 and the ovary in humans is the increased risk of premature ovarian failure (POF) in women who carry the premutation level of CGG repeats (55–199 CGGs). Research on the FMR1 gene has extended to other endpoints of relevance in the OB/GYN setting for women, including infertility and ovarian hormones. After reviewing the nomenclature changes that have occurred in recent years, this article reviews the evidence linking the length of the FMR1 repeat length to fertility and ovarian hormones (follicle stimulating hormone and anti-mullerian hormone as the primary methods to assess ovarian reserve in clinical settings). The literature is inconsistent on the association between the FMR1 trinucleotide repeat length and infertility. Elevated levels of follicle stimulating hormone have been found in women who carry the premutation; however the literature on the relationship between anti-mullerian hormone and the CGG repeat length are too disparate in design to make a summary statement. This article considers the implications of two transgenic mouse models (FXPM 130R and YAC90R) for theories on pathogenesis related to ovarian endpoints. Given the current screening/testing recommendations for reproductive age females and the variability of screening protocols in clinics, future research is recommended on pretest and posttest genetic counseling needs. Future research is also needed on ovarian health measurements across a range of CGG repeat lengths in order to interpret FMR1 test results in reproductive age women; the inconsistencies in the literature make it quite challenging to advise women on their risks related to FMR1 repeat length.

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The relationship between the number of CGG repeats and serum level of anti-Müllerian hormone in women without FMR1 premutation

Cited by 6 publications

References 31 publications

Evidence of an age-related correlation of ovarian reserve and FMR1 repeat number among women with “normal” CGG repeat status

Evidence of an age-related correlation of ovarian reserve and FMR1 repeat number among women with “normal” CGG repeat status

AMH in women with diminished ovarian reserve: potential differences by FMR1 CGG repeat level

The FMR1 gene, infertility, and reproductive decision-making: a review

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