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