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 can be pursued next if a phenotypic female is found to have a 46,XY karyotype and if the AR variant in the family is known. It incluides:
  • 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.
• In prenatal amniocentesis the male karyotype is not matched by the ultrasound or obvious female appearance at birth.
• Androgen binding assays may be considered if an AR variant has not been identified in the family.
• With increased use, discordance among prenatal testing modalities such as preimplantation genetic screening, noninvasive prenatal screening, and ultrasonography will become more common requiring expert navigation to identify true pathology.

Molecular Genetic Testing Used in Androgen Insensitivity Syndrome
Gene	Test Method	Proportion of 46,XY Probands w/a Pathogenic Variant 2 Detectable by This Method
AR	Sequence analysis	~95%-97%
Gene-targeted deletion/duplication analysis	~3%-5%