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

作者：Pastore Lisa M^*; McMurry Timothy L; Williams Christopher D; Baker Valerie L; Young Steven L

来源：Journal of Assisted Reproduction and Genetics, 2014, 31(10): 1295-1301.

DOI：10.1007/s10815-014-0276-2

• FMR1
• Primary ovarian insufficiency
• Diminished ovarian reserve
• Anti-mullerian hormone
• Ovarian reserve
• Female infertility
• Statistical modeling

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.
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. a parts per thousand yen35 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.
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 a parts per thousand yenaEuro parts per thousand 35 CGG repeats than women with < 35 repeats (p = 0.035).
Findings suggest a greater rate of follicular loss that starts at later ages in women with DOR and a parts per thousand yenaEuro parts per thousand 35 CGG repeats.

• 出版日期2014-10