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Gonadal dysgenesis in the mare.

J P Hughes, K Benirschke, P C Kennedy

    Journal of Reproduction and Fertility. Supplement
    |October 1, 1975
    PubMed
    Summary

    Chromosome analysis is vital for diagnosing equine infertility. Karyotyping revealed abnormalities like 63XO and mosaicism in infertile mares, explaining their reproductive failure.

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    Area of Science:

    • Reproductive biology
    • Equine genetics
    • Veterinary medicine

    Background:

    • Equine infertility presents diagnostic challenges.
    • Understanding chromosomal abnormalities is crucial for reproductive success in mares.
    • Phenotypically normal mares can exhibit underlying genetic causes for infertility.

    Purpose of the Study:

    • To investigate the chromosomal basis of infertility in phenotypically normal mares.
    • To determine if karyotype analysis can identify specific genetic abnormalities associated with equine infertility.
    • To correlate karyotypic findings with ovarian and uterine characteristics in infertile mares.

    Main Methods:

    • Karyotype analysis of blood samples from five infertile mares.
    • Gross examination of reproductive organs (uterus and ovaries).
    • Histological examination of ovarian tissue to assess germ cell presence and stromal differentiation.

    Main Results:

    • Four mares presented with a 63XO karyotype (Turner syndrome equivalent).
    • One mare exhibited a 25,64XX/13,63XO mosaic karyotype.
    • All studied mares had small uteri and ovaries lacking germ cells, with undifferentiated ovarian stroma.

    Conclusions:

    • Karyotype analysis is an essential diagnostic tool for identifying specific causes of equine infertility.
    • Chromosomal abnormalities, including XO and mosaicism, can lead to gonadal dysgenesis and infertility in mares.
    • These findings highlight the importance of genetic evaluation in infertile horses.

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