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Table 1 Disorders of sex development: Chicago Classification of sex [4]

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)
  1. DSD: Disorders of Sex development, LH: Luthenizing hormone, AMH: Antimulerian hormone, SRY: Sex region Y chromosome