Positive classic galactosemia carrier status does not impact ovarian reserve

Classic galactosemia is an inherited disorder of galactose metabolism caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. Even with early adoption of the recommended galactose-restricted diet, over 80% of affected females develop Premature Ovarian Insufficiency (POI). In a study by Cramer et al, female carriers were observed to demonstrate an increased likelihood of infertility and early menopause. Conversely, a Dutch study by Knauff et al. found no difference in ovarian reserve when comparing classic galactosemia carriers and controls.

Source: Fertility and Sterility - September 1, 2018 Category: Reproduction Medicine Authors: T.A. Cacchione, L. Sekhon, T.G. Nazem, D. Gounko, J. Lee, L. Grunfeld, A.B. Copperman Tags: Poster session Source Type: research