46,XX karyotype with androgen excess (congenital adrenal hyperplasia with 21 hydroxylase deficiency, 3 β-hydroxysteroid dehydrogenase deficiency, 11 β-hydroxylase deficiency, POR deficiency, aromatase deficiency, exogenous causes)46,XX karyotype with gonadal development disorders (complete or partial gonadal dysgenesis, ovotesticular DSD, 46XX males, monogenic forms of premature ovarian insufficiency)46,XX karyotype and non-development of uterus or vagina (Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome and other complex malformation syndromes). This evidence concerns the gene PPIB and aromatase deficiency.