64,XX, SRY-, and ZFY-Negative Icelandic Horse Likely to Be True Hermaphrodite |
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| Authors: | Sigridur K Bodvarsdottir MSc PhD Freyja Imsland BSc Bjorgvin Thorisson VMD Margret Steinarsdottir MSc Jorunn E Eyfjord DPhil |
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| Institution: | aCancer Research Laboratory, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegi, Reykjavik, Iceland;bDrösull Veterinary Clinic, Thokkaholti, Kopavogur, Iceland;cDepartment of Genetics and Molecular Medicine, Landspitali Hospital, Reykjavik, Iceland |
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| Abstract: | A 4-year-old Icelandic horse, considered to be a mare, showed stallion-like behavior in a group of mares. On clinical examination, the horse turned out to have an enlarged erectable phallic clitoris. Ultrasound examination showed a normal-sized left ovary covered with numerous small follicular cysts and a compact testis-like tissue in place of the right ovary. The karyotype was normal for a mare (64,XX), and the horse was found to be negative for the Y chromosome–specific markers SRY, ZFY, and EIF1AY. This case indicates that the intersexual phenotype may be caused by autosomal recessive mutation, resulting in defects in cortisol biosynthesis rather than transferal of Y chromosome male–specific genes. This is the first report of an intersexual phenotype in an Icelandic horse that is likely to be a true hermaphrodite because of female sex chromosomes and a mixture of female and male gonads and external genitals. |
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| Keywords: | True hermaphroditism XX-sex reversal SRY ZFY EIF1AY |
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