A novel antimüllerian gene mutation in a woman with high antral follicle count and extremely low serum antimüllerian hormone levels.

Objective: To report a case with a distinct difference between the ovarian reserve parameters of antimüllerian hormone (AMH) levels, antral follicle count (AFC), and follicle-stimulating hormone levels caused by a novel homozygous missense variant in the exon 1 of the gene [NM_000479.4:c259G>A, p.(Val87Met)].