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Androgen insensitivity syndrome
Pathophysiology: X-linked mutation in androgen receptor Signs / symptoms: Genotypically male (46,XY karyotype) Phenotypically female Breast development Absent or minimal axillary & pubic hair Female external genitalia Absent uterus, cervix, upper ⅓ vagina Cryptorchid testes Treatment / management: Gender identity/assignment counseling ...
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