Test Detail

Androgen insensitivity AR2–AR6 (androgen receptor) — several breeds

Reproductive · Horse

Same syndrome as AR1 (testicular feminisation due to androgen receptor dysfunction) caused by additional variants AR2, AR3, AR4, AR5 and AR6 of the AR gene. XY animals with a female phenotype and infertility. X-linked recessive inheritance. The test is complementary to the clinical examination and karyotyping.
Inheritance patternX-linked recessive.
Gene / MutationAR: AR2 c.2042G>C (p.Trp681Ser); AR3 c.1630_1654del; AR4 c.183del (p.Arg63Glyfs); AR5 c.2132C>T (p.Ala711Val); AR6 c.2204+2T>C (splicing). OMIA:000991.
PenetranceComplete in hemizygous males. Limited data in the dossier.
Sample type0,5-1 ml sangre-EDTA o 20-30 pelos de la crin o la cola
Coderkpv
Turnaround time30 days
Price85,54 €
BreedsWarmblood, Pura sangre inglés, Tennessee walking horse

Incidence

Thoroughbred (AR2, AR5, AR6), Warmblood (AR3) and Tennessee Walking Horse (AR4). Frequencies: limited data.

Clinical signs

- Female phenotype with XY karyotype
- Infertility and absence of ovarian function
- Testicular gonads frequently ectopic

History

The dossier records variants AR2 (Thoroughbred), AR3 (Warmblood), AR4 (Tennessee Walking Horse), AR5 (Thoroughbred) and AR6 (Thoroughbred, splicing). No author or year is stated.

Breeder management

- Genotype carrier mares
- Avoid matings that generate affected males
- Withdraw confirmed carriers from risk breeding programmes
- Confirm the karyotype in discordant phenotypes

Specialist notes

Differential diagnosis with AR1, XY sex reversal (SRY) and mosaicism. Complementary: karyotype and gonadal ultrasound.

References

1. OMIA:000991 Insensibilidad a andrógenos del caballo (variantes AR2–AR6)

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Price: 85,54 € · Turnaround time: 30 days

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