LAUSR

Biotinidase deficiency (BTD) impairs fatty acid and glucose metabolism by reducing utilization of biotin, a B complex vitamin. Knowledge regarding the effect of BTD on human reproductive function is limited; as only animal-based studies have explored the associations between biotin and fertility. Biotin-deficient mice have been reported to have a significant reduction in nuclear estrogen and progesterone receptor mRNA and a decrease in the number of primary and Graafian follicles (Baez-Saldana et al., 2009). Biotin-deficient fruit flies have been reported to have markedly decreased fertility (with a 28% reduction in larvae hatched per egg) compared to biotin-sufficient controls. Heterozygous BTD carriers have been shown to have reduced serum biotinidase levels as compared to non-carriers (Wolf et al., 1983); albeit the impact on human fertility has yet to be explored. Expanded carrier testing of reproductive age women provides the opportunity to identify correlations between genotypic data and phenotypic expression. Given the biological link between biotin and fertility, we evaluated ovarian reserve, response, and cycle outcome in heterozygous biotinidase deficiency patients.