Anti-Müllerian Hormone: genetic and environmental effects

Clin Chim Acta. 2018 Jan;476:123-129. doi: 10.1016/j.cca.2017.11.027. Epub 2017 Nov 23.


Anti-Müllerian hormone (AMH) is a homodimeric glycoprotein produced by granulosa cells of growing ovarian follicles. AMH appears to have an inhibitory effect on both primordial follicle recruitment and responsiveness of growing follicles to follicle-stimulating hormone (FSH). This hormone is considered to be a reliable marker of ovarian reserve; therefore, it is crucial to determine which factors influence AMH levels for prognostic and diagnostic purposes. In this review we intend to discuss the effect of genetic and environmental factors which may lead to AMH interindividual variability.

Keywords: Anti-Müllerian hormone; Environmental factors; Genetic factors; MTHFR polymorphism; Ovarian reserve; Vitamin D deficiency.

Publication types

  • Review

MeSH terms

  • Animals
  • Anti-Mullerian Hormone / genetics*
  • Anti-Mullerian Hormone / metabolism*
  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Female
  • Fragile X Mental Retardation Protein / genetics
  • Genotype
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Methylenetetrahydrofolate Reductase (NADPH2) / metabolism
  • Mutation
  • Ovarian Follicle / metabolism*


  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human
  • FMR1 protein, human
  • Fragile X Mental Retardation Protein
  • Anti-Mullerian Hormone
  • Methylenetetrahydrofolate Reductase (NADPH2)