Rapid Ovarian Reserve Decline in a Woman with Pericentric Inv(9) Variant

Abstract

Inv(9) is one of the most common chromosomal variants and is generally considered to be a variant of no clinical significance. We describe a case of a 35-year-old woman with a normal baseline fertility workup who presented to a university-affiliated fertility clinic after eight months of attempting conception. She underwent a rapid decline in anti-Mullerian hormone (AMH) from 10.0 ng/mL to 0.5 mg/mL and cycle day 3 (CD3) antral follicle count (AFC) from 58 to 4 total follicles during 18 months of follow-up. Her karyotype demonstrated a reportedly benign 46XX, Inv(9)(p11q13) variant. During follow-up and fertility treatment, she achieved pregnancy three times, but they all ended in chemical pregnancies. A systematic review of the literature identified 24 publications evaluating the association between infertility or recurrent pregnancy loss (RPL) and Inv(9). We report the prevalence of Inv(9) in women with infertility and the prevalence of infertility or RPL in women with Inv(9) mutation. Although Inv(9) has previously been considered to be a normal variant, several publications support the possible correlation between Inv(9) with reproductive failure. There has been limited literature regarding this association, and future studies should consider higher-resolution genomic detection methods to identify Inv(9)-related chromosomal rearrangements in couples presenting with infertility.

Keywords

• case report
• AMH
• inversion 9
• chromothripsis
• infertility