TWNK and 46,XX gonadal dysgenesis: In our patients the diagnosis of PEOA3 could be excluded based on the presence of ovarian dysgenesis that has not been described in patients with PEOA3, an earlier age of disease onset (1–2 vs. 2–8 decade of life) and the identification of two TWNK mutations that were not pathogenic in the patients’ parents (heterozygous carriers).