Endocrine Abstracts

Background: Gonadotropin Resistance Syndrome (GRS), also referred to as ovarian resistance syndrome, is a rare condition caused by mutations in the Follicle Stimulating Hormone Receptor (FSHR) gene. It is characterized by primary amenorrhoea, elevated gonadotropins, low-normal oestradiol, and preserved ovarian reserve.

Case Presentation: A 17-year-old female presented with primary amenorrhoea and normal secondary sexual characteristics. Investigations revealed elevated Follicle Stimulating Hormone (FSH) levels (32–38 U/L), low-normal oestradiol (<92–128 pmol/L), and elevated Anti-Mullerian Hormone (AMH) levels (47.80 pmol/L), indicating preserved ovarian reserve. Whole-genome sequencing identified two heterozygous FSHR gene variants: c.1073A>T (p.Asp358Val) and c.854+5G>A, both classified as variants of uncertain significance. Parental genetic testing confirmed a compound heterozygous state. These findings were consistent with GRS.

Conclusion: This case underscores the importance of genetic testing in diagnosing rare causes of primary amenorrhoea. GRS, characterized by preserved ovarian reserve despite impaired FSH signaling, may allow for future fertility treatments. Identification of FSHR mutations aids in tailoring management and fertility planning.

Keywords: Gonadotropin Resistance Syndrome, FSHR mutation, primary amenorrhoea, ovarian reserve, fertility planning