Intersex conditions in horses refer to variations in sex characteristics that do not fit typical definitions of male or female. These conditions can involve differences in chromosomes, gonads, or reproductive anatomy. Intersex horses may exhibit a range of physical traits, and their identification often requires genetic, hormonal, and anatomical assessments. The presence of intersex traits can impact breeding decisions and veterinary care. This page compiles peer-reviewed research studies and scholarly articles that explore the genetic, physiological, and clinical aspects of intersex conditions in equine populations.
Pompermayer E, Ysebaert MP, Vinardell T, Oikawa MA, Jonhson JP, Fernandes T, David F.A two-year-old Arabian horse presented for abnormal external genitalia and dangerous stallion-like behavior was diagnosed with disorder of sexual development (DSD), also known as intersex/hermaphroditism. Standing 1-stage surgical procedure performed under sedation, and local anesthesia to concurrently eliminate stallion-like behavior, risk of neoplastic transformation of intraabdominal gonads, and to replace ambiguous external genital with a functional, and cosmetically more acceptable anatomy. Step-1) Laparoscopic abdominal exploration and gonadectomy; Step-2) Rudimentary penis resection and...
Das PJ, Lyle SK, Beehan D, Chowdhary BP, Raudsepp T.Sex chromosome aberrations commonly lead to abnormal sexual development. Here we cytogenetically and molecularly characterized Y isochromosome in an intersex horse. Blood lymphocyte analysis showed a mosaic karyotype with 96% 63,XO and 4% 64,Xi(Y) cells. Molecular analysis of the isochromosome was carried out by fluorescence in situ hybridization and polymerase chain reaction with male-specific and pseudoautosomal markers from the horse Y chromosome. We found that the isochromosome was monocentric, composed of 2 long arms, carrying 2 sets of genes of the pseudoautosomal region (PAR) and the ma...
Knobbe MG, Maenhoudt C, Turner RM, McDonnell SM.2 Standardbred racehorses that had been winning races while competing as mares underwent postrace drug testing and had serum testosterone concentrations above the acceptable limit for female racehorses. Results: Initial physical examinations by the referring veterinarian revealed ambiguous external genitalia and suspected intra-abdominally located testes leading to a preliminary diagnosis of male pseudohermaphroditism. Horses were referred for further evaluation of sex. Physical examination of the external genitalia confirmed the findings of the referring veterinarian. Transrectal palpation an...
Bugno M, Zabek T, Golonka P, Pieńkowska-Schelling A, Schelling C, Słota E.Cytogenetic and molecular genetic studies of an intersex horse have been carried out. The investigated animal had overall male body conformation; however, its external genitalia consisted of incompletely developed vulva and penis. The X and Y chromosome painting probes detected three cell lines in the examined horse: 63,X, 64,XX and 65,XX with a fragment of a Y chromosome (del Y). The DNA analysis with the PCR and PCR/RFLP methods showed absence of SRY,AMELY and ZFY genes as well as of six Y microsatellite markers (YM2, YP9, YJ10, YE1, YH12, and YA16). These results suggest that the Y chromoso...
Ball BA, Conley AJ, Grundy SA, Sabeur K, Liu IK.Anti-Müllerian hormone (AMH) induces regression of Müllerian ducts during male fetal development; in the human male, it is expressed in Sertoli cells during fetal development (and through puberty). The objective was to characterize expression of AMH in the fetal, neonatal, prepubertal, and adult equine testis, as well as in equine cryptorchid testes, in select testicular neoplasms, and in intersex gonads, based upon immunohistochemistry (IHC). Testes were removed from equine fetuses at 5.5, 10, and 11 months of gestation, at 12 months of age, and from adult stallions. In addition, cryptorchi...
Cribiu EP, Chaffaux S.With the exception of bovine freemartinism, intersexuality is rarely reported in domestic animals. The few cases of intersexuality reported here in dogs, cattle, goats, sheep and horses were classified according to the karyotype. The XX intersexes described here included goats which were either polled male pseudohermaphrodites or true hermaphrodites and dogs which were female pseudohermaphrodites. Among the XY intersexes studied, one dog was a true hermaphrodite, whereas the others were male pseudohermaphrodites, all mares showed gonadal dysgenesis and one cow was a female pseudohermaphrodite....
Moreno-Millan M, Delgado Bermejo JV, Lopez Castillo G.An X-trisomy has been detected in an intersexuality Spanish-bred horse by using G- and C-banding methods. The external characteristics and the behavioural and physiological irregularities of the horse are described. This is the first time that an association between an X-trisomy and a case of intersexuality has been reported in any domestic animal.
Braun U, Förster M, Schams D.A case of intersexuality in an arabo-haflinger horse is described. The external genitalia consisted of mammary gland, vulva and hypertrophic clitoris; the inner genitalia of rudimental testes. The sexual behaviour was typically male-like. The chromosome analysis showed the female karyotype 64,XX. The presence of testes in a genetically female animal is explained by translocation of an Y-chromosome fragment bearing the gene for the H-Y-antigen.
Dunn HO, Smiley D, Duncan JR, McEntee K.The karyotypes of a Welsh pony and a Standardbred were 64,XX/64,XY and 63,XO/64,XY respectively. Both intersexes were true hermaphrodites with bilateral ovotestes. Neither intersex showed stallion-like behaviour. Each one had an underdeveloped penis, bilateral seminal vesicles and uterine tissue. It would appear that the chimerism in these equine intersexes resulted from double fertilization or fusion of blastocysts. Mosaicism in the Standardbred is a possibility, resulting from loss of a Y chromosome by anaphase lag in an early embryonic XY cell.
McIlwraith CW, Owen RA, Basrur PK.Cytogenetic and histological studies were carried out on an intersex horse which was diagnosed clinically as a cryptorchid. Surgery confirmed the horse to be a bilateral abdominal cryptorchid and histological examination revealed ovarian tissue associated with the left epididymis. Chromosome analysis of cultured cells from testicular tissue, ovarian tissue and skin revealed 64-XX and 64-XY make-up, the left gonad containing a greater preponderance of XX cells over XY cells. The external characteristics and behaviour of the horse were indistinguishable from that of a "routine" cryptorchid. Othe...
Basrur PK, Kanagawa H, Podliachouk L.An intersex horse exhibiting cell types of different sex chromosome constitution was subjected to further studies in order to determine whether the house was a mosaic or a chimera. Cultures of gonadal tissue and peripheral blood revealed mainly 64/XX and 64/XY cells, the former predominating in both tissues. The frequency of drumstick-bearing poly-morphonuclear neutrophils in the intersex horse was similar to that noted in normal mares. Blood type analysis using 17 naturally occurring agglutinins and hemolysins revealed partial agglutinations with three antibodies for the factors of the A syst...
Basrur PK, Kanagawa H, Gilman JP.Cytogenetic and histological studies have been carried out on an intersex horse which was clinically diagnosed as a cryptorchid. The horse had the general conformation of a stallion but the external genitalia included a well developed vulva and a penis. The right testis which was descended was devoid of germ cells and the left "gonad" located in the cavum vaginale contained neither testicular nor ovarian tissue. The male duct system on both sides were relatively well developed despite the absence of a testis on the left side. Chromosome analysis on cultured cells from the descended testis reve...
Bornstein S.Two intersex horses were characterized externally by vulva and “enlarged clitoris-hypoplastic penis” and internally by uterus and testicles. Both had a normal female karyotype 64/XX. One of the horses whose body measurements were in accordance with mares of the same breed, showed a distinct stallion behaviour.
Basrur PK, Kanagawa H, Gilman JP.Cytogenetic and histological studies have been carried out on an intersex horse which was clinically diagnosed as a cryptorchid. The horse had the general conformation of a stallion but the external genitalia included a well developed vulva and a penis. The right testis which was descended was devoid of germ cells and the left "gonad" located in the cavum vaginale contained neither testicular nor ovarian tissue. The male duct system on both sides were relatively well developed despite the absence of a testis on the left side. Chromosome analysis on cultured cells from the descended testis reve...
Das PJ, Lyle SK, Beehan D, Chowdhary BP, Raudsepp T.Sex chromosome aberrations commonly lead to abnormal sexual development. Here we cytogenetically and molecularly characterized Y isochromosome in an intersex horse. Blood lymphocyte analysis showed a mosaic karyotype with 96% 63,XO and 4% 64,Xi(Y) cells. Molecular analysis of the isochromosome was carried out by fluorescence in situ hybridization and polymerase chain reaction with male-specific and pseudoautosomal markers from the horse Y chromosome. We found that the isochromosome was monocentric, composed of 2 long arms, carrying 2 sets of genes of the pseudoautosomal region (PAR) and the ma...
Knobbe MG, Maenhoudt C, Turner RM, McDonnell SM.2 Standardbred racehorses that had been winning races while competing as mares underwent postrace drug testing and had serum testosterone concentrations above the acceptable limit for female racehorses. Results: Initial physical examinations by the referring veterinarian revealed ambiguous external genitalia and suspected intra-abdominally located testes leading to a preliminary diagnosis of male pseudohermaphroditism. Horses were referred for further evaluation of sex. Physical examination of the external genitalia confirmed the findings of the referring veterinarian. Transrectal palpation an...
Moreno-Millan M, Delgado Bermejo JV, Lopez Castillo G.An X-trisomy has been detected in an intersexuality Spanish-bred horse by using G- and C-banding methods. The external characteristics and the behavioural and physiological irregularities of the horse are described. This is the first time that an association between an X-trisomy and a case of intersexuality has been reported in any domestic animal.
Bugno M, Zabek T, Golonka P, Pieńkowska-Schelling A, Schelling C, Słota E.Cytogenetic and molecular genetic studies of an intersex horse have been carried out. The investigated animal had overall male body conformation; however, its external genitalia consisted of incompletely developed vulva and penis. The X and Y chromosome painting probes detected three cell lines in the examined horse: 63,X, 64,XX and 65,XX with a fragment of a Y chromosome (del Y). The DNA analysis with the PCR and PCR/RFLP methods showed absence of SRY,AMELY and ZFY genes as well as of six Y microsatellite markers (YM2, YP9, YJ10, YE1, YH12, and YA16). These results suggest that the Y chromoso...
Cribiu EP, Chaffaux S.With the exception of bovine freemartinism, intersexuality is rarely reported in domestic animals. The few cases of intersexuality reported here in dogs, cattle, goats, sheep and horses were classified according to the karyotype. The XX intersexes described here included goats which were either polled male pseudohermaphrodites or true hermaphrodites and dogs which were female pseudohermaphrodites. Among the XY intersexes studied, one dog was a true hermaphrodite, whereas the others were male pseudohermaphrodites, all mares showed gonadal dysgenesis and one cow was a female pseudohermaphrodite....
McIlwraith CW, Owen RA, Basrur PK.Cytogenetic and histological studies were carried out on an intersex horse which was diagnosed clinically as a cryptorchid. Surgery confirmed the horse to be a bilateral abdominal cryptorchid and histological examination revealed ovarian tissue associated with the left epididymis. Chromosome analysis of cultured cells from testicular tissue, ovarian tissue and skin revealed 64-XX and 64-XY make-up, the left gonad containing a greater preponderance of XX cells over XY cells. The external characteristics and behaviour of the horse were indistinguishable from that of a "routine" cryptorchid. Othe...
Bornstein S.Two intersex horses were characterized externally by vulva and “enlarged clitoris-hypoplastic penis” and internally by uterus and testicles. Both had a normal female karyotype 64/XX. One of the horses whose body measurements were in accordance with mares of the same breed, showed a distinct stallion behaviour.
Basrur PK, Kanagawa H, Podliachouk L.An intersex horse exhibiting cell types of different sex chromosome constitution was subjected to further studies in order to determine whether the house was a mosaic or a chimera. Cultures of gonadal tissue and peripheral blood revealed mainly 64/XX and 64/XY cells, the former predominating in both tissues. The frequency of drumstick-bearing poly-morphonuclear neutrophils in the intersex horse was similar to that noted in normal mares. Blood type analysis using 17 naturally occurring agglutinins and hemolysins revealed partial agglutinations with three antibodies for the factors of the A syst...
Dunn HO, Smiley D, Duncan JR, McEntee K.The karyotypes of a Welsh pony and a Standardbred were 64,XX/64,XY and 63,XO/64,XY respectively. Both intersexes were true hermaphrodites with bilateral ovotestes. Neither intersex showed stallion-like behaviour. Each one had an underdeveloped penis, bilateral seminal vesicles and uterine tissue. It would appear that the chimerism in these equine intersexes resulted from double fertilization or fusion of blastocysts. Mosaicism in the Standardbred is a possibility, resulting from loss of a Y chromosome by anaphase lag in an early embryonic XY cell.
Braun U, Förster M, Schams D.A case of intersexuality in an arabo-haflinger horse is described. The external genitalia consisted of mammary gland, vulva and hypertrophic clitoris; the inner genitalia of rudimental testes. The sexual behaviour was typically male-like. The chromosome analysis showed the female karyotype 64,XX. The presence of testes in a genetically female animal is explained by translocation of an Y-chromosome fragment bearing the gene for the H-Y-antigen.
Ball BA, Conley AJ, Grundy SA, Sabeur K, Liu IK.Anti-Müllerian hormone (AMH) induces regression of Müllerian ducts during male fetal development; in the human male, it is expressed in Sertoli cells during fetal development (and through puberty). The objective was to characterize expression of AMH in the fetal, neonatal, prepubertal, and adult equine testis, as well as in equine cryptorchid testes, in select testicular neoplasms, and in intersex gonads, based upon immunohistochemistry (IHC). Testes were removed from equine fetuses at 5.5, 10, and 11 months of gestation, at 12 months of age, and from adult stallions. In addition, cryptorchi...
Pompermayer E, Ysebaert MP, Vinardell T, Oikawa MA, Jonhson JP, Fernandes T, David F.A two-year-old Arabian horse presented for abnormal external genitalia and dangerous stallion-like behavior was diagnosed with disorder of sexual development (DSD), also known as intersex/hermaphroditism. Standing 1-stage surgical procedure performed under sedation, and local anesthesia to concurrently eliminate stallion-like behavior, risk of neoplastic transformation of intraabdominal gonads, and to replace ambiguous external genital with a functional, and cosmetically more acceptable anatomy. Step-1) Laparoscopic abdominal exploration and gonadectomy; Step-2) Rudimentary penis resection and...
