Androgen insensitivity syndrome laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Laboratory Findings

• Prenatal amniocentesis discovers male karyotype not matched by ultrasound or obvious female appearance at birth.
• Karyotype performed for unrelated purposes is found to be XY.
• Measurement of testosterone, DHT, AMH, and one or more adrenal steroids.
• Commercial androgen receptor assays have recently become available.
• Potential tissue responsiveness to testosterone