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Androgen resistance syndrome

Synonyms
Androgen insensitivity; Androgen insensitivity syndrome; Androgen insensitivity syndrome due to coactivator deficiency; Androgen insensitivity, complete; Androgen receptor deficiency; Dihydrotestosterone receptor deficiency; TESTICULAR FEMINIZATION SYNDROME
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Androgen Insensitivity Syndrome
Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Bruce Gottlieb
Mark A Trifiro
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Available tests

51 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (51 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AIS, AR8, DHTR, HUMARA, HYSP1, KD, NR3C4, SBMA, SMAX1, TFM, AR
    Summary: androgen receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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