Role and relation of gonadotropins in Keratoconus and Down Syndrome

Abstract

Purpose : Keratoconus (KC) is one of the most significant corneal disorders which is characterized by corneal thinning, cone-shaped protrusion, and steepening of the cornea. It is also known to cause reduced visual acuity which affects the quality of life. Down syndrome (DS), a common genetic disorder of chromosomal nondisjunction, has been strongly associated with KC; however, the exact reason remains unexplored. This study aimed to investigate the relationship of DS with KC in the context of gonadotrophic hormones.

Methods : This study adhered to the declaration of Helsinki. Fifty-eight healthy controls (29 male, 29 female), one hundred and forty-nine KC (112 male, 37 female) and eighty DS (44 male, 36 female) patients were recruited for this study. Plasma samples were collected from all participants. Using enzyme-linked immunosorbent assay (ELISA) we investigated the expression of Gonadotrophin-releasing hormone (GnRH) and Follicle stimulating hormone (FSH).

Results : Significant downregulation of GnRH expression was observed in KCs when compared with healthy and DSs. GnRH was significantly downregulated in KC and DS males, compared to their healthy counterparts, while no significance was observed in females across all diseases. Significant upregulation of FSH levels was observed in DSs compared to both healthy and KCs. Both DS males and females showed significantly elevated FSH expression, when compared to healthy and KCs.

Conclusions : Our results revealed the downregulation of GnRH with male dominance in both KC and DS participants. We also found significant upregulation of FSH in DSs suggesting abnormal gonadotropin regulation in these patients. Further studies are needed, in order to fully understand the relationship between KC and DS disorders.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.