57,48 47,50 hors TVA

P309

Androgen Insensitivity Syndrome (AIS) is a genetic condition passed down through the X chromosome.

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Caractéristiques

Breeds

Gene

Organ

specimen

Hair, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Androgen Insensitivity Syndrome (AIS) is a genetic condition passed down through the X chromosome. It is caused by a mutation in the androgen receptor (AR) gene, which prevents androgens (male hormones) from working properly during embryo development. Therefore, the normal development of male traits in horses with male chromosomes (46XY) is disrupted. Depending on how sensitive the androgen receptors are to the hormone, the horse’s appearance can vary from female-like genitalia to male-like genitalia, but with issues with infertility.

This variant occurs in Warmblood horses.

Caractéristiques cliniques

Clinical features are underdeveloped testicular-like structures in the area where ovaries were expected, higher testosterone values and potential increased risk for prostate cancer.

Additional Information

Références

Pubmed ID: 28192783

Omia ID: 991

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