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GTR Home > Conditions/Phenotypes > Partial androgen insensitivity syndrome

Partial androgen insensitivity syndrome

Synonyms
ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER; Androgen resistance syndrome, partial; Gynecomastia, familial; Pseudohermaphroditism, Incomplete male, type I; Reifenstein syndrome; Reifenstein syndrome, partial; Type I familial incomplete male pseudohermaphroditism
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Individuals with androgen insensitivity have a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. The phenotype in PAIS varies depending on residual androgen receptor function, ranging from severe undermasculinization presenting as female-like external genitalia to male-appearing genitalia. The typical presentation comprises micropenis, severe hypospadias, and bifid scrotum with or without cryptorchidism (summary by Mongan et al., 2015). [from OMIM]

Available tests

33 tests are in the database for this condition.

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Clinical tests (33 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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