DDx of XY female

· SRY deletion

· translocation of SRY to the X PAR of another gamete

· dup(1)(p31p35)

· WNT4 gene duplication

· del(2)(q31)

· del(9)(p24.3) (DMRT1)

· del(10)(q26qter)

· del(12)(q24.3)

· dup(X)(p21.3)

· SOX9 mutation (17q) (AD)

· SF1 mutation (9q33)

· WT1 mutation (11p13) (AD)

· Denys-Drash

· Frasier

· ATRX mutation (Xq13.3)

· Gonadotropin abnormality

· Inherited disorders of testosterone biosynthesis

· 5-alpha-reductase deficiency

· Abnormalities of Androgen target cells

· Androgen insensitivity syndrome

References:

· Nussbaum RL, McInnes RR, Willard HF. Thompson & Thompson Genetics in Medicine: With STUDENT CONSULT Online Access. 7th ed. Saunders; 2007.