In LS patients hBD1 levels were significantly lower (median: 297 ng/mL) than in the CTL group (median: 975 ng/mL) (p = 0.0003), while hBD2 (LS median: 1110 pg/mL and CTL median: 614 pg/mL) (p = 0.0359) and hBD3 levels (LS median: 2998 ng/mL and CTL median: 994.5 ng/mL) (p = 0.0002) were significantly elevated in the LS group, measured in 10 mL cervicovaginal lavage. The gene discussed is DEFB1; the disease is Leigh syndrome.