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

OBJECTIVE: To investigate the relationship between the number of CGG repeats in the fragile X mental retardation 1 (FMR1) gene and serum levels of anti-Müllerian hormone (AMH) in Korean infertility patients without premutation. STUDY
DESIGN: A retrospective study of 228 infertile women who received fertility treatment in a single private in vitro fertilization (IVF) clinic from May 2010 to August 2012 was performed. Serum FSH and AMH were measured on menstrual day 3 and the number of CGG repeats was evaluated.
RESULTS: The mean age of the study population was 33.3±3.8 years. No significant correlation was observed between CGG repeat count in both alleles and the serum FSH, AMH or multiples of median (MoM) of AMH in whole study subjects. In women with age ≥35 years, however, there was an increasing tendency in the MoM of AMH with increasing number of CGG repeats in allele 2 (R(2)=0.075, p=0.008). This correlation was not observed in patients aged less than 35 years.
CONCLUSION: We observed a positive correlation between MoM of AMH and number of CGG repeats in allele 2 in women aged over 35 years. Our findings are discordant with other reports, and therefore further studies are needed to determine whether this discrepancy is due to ethnic differences.