​Symptoms and Signs – Differential Diagnosis of Hermaphroditism
FEMALE PSEUDOHERMAPHRODITISM
• Androgen exposure
• Fetal source
21-Hydroxylase (P450c21) deficiency
11β-Hydroxylase (P450c11) deficiency
3β-Hydroxysteroid dehydrogenase II (3) deficiency
Aromatase (P450arom) deficiency
• Maternal source
Virilizing ovarian tumor
Virilizing adrenal tumor
Androgenic drugs
• Undetermined origin
• Associated with GU and GI tract defects

MALE PSEUDOHERMAPHRODITISM
• Defects in testicular differentiation
• Denys-Drash syndrome (mutation in WT1 gene)
• WAGR syndrome (Wilms’ tumor, aniridia, GU malformation,
retardation)
• Deletion of 11p13
• Camptomelic syndrome (autosomal gene at 17q24.3-q25.1)
and SOX9 mutation
• XY pure gonadal dysgenesis (Swyer syndrome)
Mutation in SRY gene
Unknown cause
XY gonadal agenesis
• Deficiency of testicular hormones
• Leydig cell aplasia
• Mutation in luteinizing hormone (LH) receptor
• Lipoid adrenal hyperplasia (P450scc) deficiency; mutation in
StAR (steroidogenic acute regulatory protein)
• 3β-Hydroxysteroid dehydrogenase II deficiency
• 17-Hydroxylase/17,20-lyase (P450c17) deficiency
• Persistent müllerian duct syndrome
• Gene mutations, müllerian-inhibiting substance (MIS)
• Receptor defects for MIS
• Defect in androgen action
• 5α-Reductase 2 mutations
• Androgen receptor defects
• Complete androgen insensitivity syndrome
• Partial androgen insensitivity syndrome
Reifenstein’s and other syndromes
Smith-Lemli-Opitz syndrome
• Defect in conversion of 7-dehydrocholesterol to cholesterol

TRUE HERMAPHRODITISM
• XX
• XY
• XX/XY chimeras