title: AMH in women with diminished ovarian reserve: potential differences by FMR1 CGG repeat level.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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).
  
  
  CONCLUSIONS
  Findings suggest a greater rate of follicular loss that starts at later ages in women with DOR and ≥ 35 CGG repeats.
authors.affiliation: Department of Obstetrics and Gynecology, School of Medicine, University of Virginia, Box 800712, Charlottesville, VA, 22908-0712, USA, pastorestudies@gmail.com.
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Pastore
authors.forename: Timothy L
authors.initials: TL
authors.lastname: McMurry
authors.forename: Christopher D
authors.initials: CD
authors.lastname: Williams
authors.forename: Valerie L
authors.initials: VL
authors.lastname: Baker
authors.forename: Steven L
authors.initials: SL
authors.lastname: Young
mesh_terms: D000328:Adult; D054304:Anti-Mullerian Hormone / Q000096:biosynthesis*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics / Q000378:metabolism; D005838:Genotype; D006801:Humans; D009865:Oocytes / Q000378:metabolism; D065851:Ovarian Reserve / Q000235:genetics*; D010053:Ovary / Q000378:metabolism; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D054304:Anti-Mullerian Hormone; D005640:Follicle Stimulating Hormone; D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human