From: Ambiguous genitalia: clinical management of adult female with male assigned gender: a case report
Sex chromosome DSD | 46, XY DSD | 46, XX DSD |
---|---|---|
45, XO (Turner syndrome and variants) | Disorders of gonadal (testicular) development Complete gonadal dysgenesis (Sawyer syndrome) Partial gonadal dysgenesis, gonadal regression, ovotesticular DSD | Disorders of gonadal (ovarian) development Ovotesticular DSD Testicular DSD (SRY+, dup SOX9) • Gonadal dysgenesis |
47, XXY (Klinefelter syndrome and variants) | Disorders in androgen synthesis or action • Androgen biosynthesis defect (17-hydroxysteroid dehydrogenase deficiency, 5α-reductase deficiency) | Androgen excess Fetal (21-or 11-hydroxylase deficiency) |
45, X/46, XY (mixed gonadal dysgenesis, ovotesticular DSD) | Defect in androgen action (complete androgen insensitivity syndrome) | Fetoplacental (aromatase deficiency, P450 oxidoreductase) |
46, XX/46, XY (chimeric, ovotesticular DSD) | LH receptor defects (Leydig cell hypoplasia) Disorders of AMH and AMH receptor (persistent Müllerian duct syndrome) | Maternal (luteoma, exogenous) |