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: Aravind Reddy Kothagadi M.B.B.S[2]

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

Supportive laboratory findings:

• Normal 46,XY karyotype
• Evidence of normal or increased synthesis of testosterone (T) by the testes
• Evidence of normal conversion of testosterone to dihydrotestosterone (DHT)
• Evidence of normal or increased luteinizing hormone (LH) production by the pituitary gland
• In CAIS, but not in PAIS: possible reduction in postnatal (0-3 months) surge in serum LH and serum T concentrations.
• In the “predominantly male” phenotype:
  • Less than normal decline of sex hormone-binding globulin in response to a standard dose of the anabolic androgen, stanozolol.
  • Higher than normal levels of anti-müllerian hormone during the first year of life or after puberty has begun.
• Molecular genetic testing:
  • Single-gene testing
  • Multi-gene panel
  • Comprehensive genomic testing like including exome sequencing and genome sequencing may be considered if single-gene testing (and/or use of a multi-gene panel that includes AR) fails to confirm a diagnosis in an individual with features of AIS.