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P309

Androgen insensitivity syndrome (AIS) results from failure of masculinization of target organs by androgen secretions during embryo development.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Hair, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Androgen insensitivity syndrome (AIS) results from failure of masculinization of target organs by androgen secretions during embryo development. The mutation is caused by a 25-bp deletion on the DNA-binding domain of the androgen receptor gene in the family.

Clinical features

Clinical features are under developed testicular-like structures in the area where ovaries were expected and higher testosterone values.

Additional information

References

Pubmed ID: 28192783

Omia ID: 991

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