Androgen insensitivity syndrome laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

• Evidence of normal or increased synthesis of testosterone and its normal conversion to dihydrotestosterone, and normal or increased luteinizing hormone (LH) production by the pituitary gland AND/OR by the identification of a hemizygous pathogenic variant.

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 - after one or more injections of testosterone are given to the infant, measurable growth of the penis and noticeably increased erection frequency over the next two weeks suggests (though not infallibly) a capacity for further growth and virilization at puberty.