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

Journal Article (Journal Article)

PURPOSE: We explored whether AMH, as a surrogate for oocyte supply, varies by FMR1 genotype in women diagnosed with diminished ovarian reserve (DOR), a subset of the Primary Ovarian Insufficiency phenotype. Research is inconsistent on the relationship between AMH and FMR1 repeat length, controlling for age. METHOD: Seventy-nine cycling women diagnosed with DOR, and without a family history of fragile X syndrome, provided blood for FMR1 and AMH testing. DOR was defined as elevated FSH and/or low AMH and/or low antral follicle count, with regular menses. FMR1 CGG repeats were stratified by the larger allele <35 repeats (n = 70) v. ≥35 repeats (n = 9). Quadratic and linear models were fit to predict log (AMH) controlling for age. The AMH sample used as the outcome variable was drawn at a later date than the diagnostic AMH. RESULTS: Serum AMH concentration median was 0.30 ng/mL; Ages ranged from 26-43 years. A quadratic model (including age(2)) did not show a relationship with FMR1 CGG level (p-value = 0.25). A linear model of log (AMH), corresponding to an exponential decline of AMH with increasing age, was significantly different, and had a steeper slope, for women with ≥ 35 CGG repeats than women with < 35 repeats (p = 0.035). CONCLUSION: Findings suggest a greater rate of follicular loss that starts at later ages in women with DOR and ≥ 35 CGG repeats.

Full Text

Duke Authors

Cited Authors

  • Pastore, LM; McMurry, TL; Williams, CD; Baker, VL; Young, SL

Published Date

  • October 2014

Published In

Volume / Issue

  • 31 / 10

Start / End Page

  • 1295 - 1301

PubMed ID

  • 24938362

Pubmed Central ID

  • PMC4171418

Electronic International Standard Serial Number (EISSN)

  • 1573-7330

Digital Object Identifier (DOI)

  • 10.1007/s10815-014-0276-2


  • eng

Conference Location

  • Netherlands