Complete Androgen Insensitivity Syndrome: X-linked mutation in androgen receptor, 46, XY, Breasts - yes, Pubic hair - no, Absent uterus , 5-a reductase deficiency: Non-functioning enzyme that converts testosterone to DHT, 46, XY, Breasts - no, Pubic hair - yes, Undescended testes, Mullerian Agenesis: Hypoplatic/absent mullerian ductal system, 46, XX, Breasts - yes, Pubic hair - yes, Rudimentary uterus and upper vagina, normal ovaries, Turner Syndrome: Complete absence of X chromosome, 45, XO, Breasts - variable, pubic hair - yes, Normal uterus and vagina, Streak ovaries, 21B-Hydroxylase deficiency: XX with hypotension, pseudohermaphroditism (clitoromegaly), virilization, infertility, XY with hypotension, precocious puberty, 11B-hydroxylase deficiency: XX with hypertension, pseudohermaphroditism, virilization, infertility, XY with hypertension, precocious puberty, 17a hydroxylase deficiency: XX with hypertension, normal female genitalia at birth, delayed puberty, XY with hypertension, pseudohermaphroditism - blind ending vagina ,
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Sex Development
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