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Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour. 2005

M Switonski, and A Chmurzynska, and I Szczerbal, and A Lipczynski, and F Yang, and A Nowicka-Posłuszna
Department of Genetics and Animal Breeding, August Cieszkowski Agricultural University of Poznan, Poznan, Poland/ switonsk@jay.au.poznan.pl

A 5-year-old Thoroughbred mare was subjected to cytogenetic and molecular analysis because of infertility and masculine behaviour. Chromosome studies, including painting with the whole X chromosome specific probe, revealed a male chromosome complement (64,XY). The PCR amplification of the SRY and ZFY genes showed the presence of both those genes, while the endocrinological study demonstrated a high level of testosterone (9.7 nmol/l). Sequencing of the SRY gene (1121 bp), comprising also 5'- and 3'-UTRs, did not reveal any differences when compared with the sequence of normal stallions. It was proposed that this mare represents the androgen insensitivity syndrome (testicular feminization syndrome).

UI MeSH Term Description Entries
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D005260 Female Females
D005836 Genitalia, Female The female reproductive organs. The external organs include the VULVA; BARTHOLIN'S GLANDS; and CLITORIS. The internal organs include the VAGINA; UTERUS; OVARY; and FALLOPIAN TUBES. Accessory Sex Organs, Female,Sex Organs, Accessory, Female,Genital Organs, Female,Genitals, Female,Reproductive System, Female,Female Genital,Female Genital Organ,Female Genital Organs,Female Genitalia,Female Genitals,Female Reproductive System,Female Reproductive Systems,Genital Organ, Female,Genital, Female,Reproductive Systems, Female
D006734 Horse Diseases Diseases of domestic and wild horses of the species Equus caballus. Equine Diseases,Disease, Equine,Disease, Horse,Diseases, Equine,Diseases, Horse,Equine Disease,Horse Disease
D006736 Horses Large, hoofed mammals of the family EQUIDAE. Horses are active day and night with most of the day spent seeking and consuming food. Feeding peaks occur in the early morning and late afternoon, and there are several daily periods of rest. Equus caballus,Equus przewalskii,Horse, Domestic,Domestic Horse,Domestic Horses,Horse,Horses, Domestic
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D012726 Sexual Behavior, Animal Sexual activities of animals. Mating Behavior, Animal,Sex Behavior, Animal,Animal Mating Behavior,Animal Mating Behaviors,Animal Sex Behavior,Animal Sex Behaviors,Animal Sexual Behavior,Animal Sexual Behaviors,Mating Behaviors, Animal,Sex Behaviors, Animal,Sexual Behaviors, Animal
D013739 Testosterone A potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn, testosterone exerts feedback control of the pituitary LH and FSH secretion. Depending on the tissues, testosterone can be further converted to DIHYDROTESTOSTERONE or ESTRADIOL. 17-beta-Hydroxy-4-Androsten-3-one,17-beta-Hydroxy-8 alpha-4-Androsten-3-one,8-Isotestosterone,AndroGel,Androderm,Andropatch,Androtop,Histerone,Sterotate,Sustanon,Testim,Testoderm,Testolin,Testopel,Testosterone Sulfate,17 beta Hydroxy 4 Androsten 3 one,17 beta Hydroxy 8 alpha 4 Androsten 3 one,8 Isotestosterone
D014960 X Chromosome The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species. Chromosome, X,Chromosomes, X,X Chromosomes
D017422 Sequence Analysis, DNA A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis. DNA Sequence Analysis,Sequence Determination, DNA,Analysis, DNA Sequence,DNA Sequence Determination,DNA Sequence Determinations,DNA Sequencing,Determination, DNA Sequence,Determinations, DNA Sequence,Sequence Determinations, DNA,Analyses, DNA Sequence,DNA Sequence Analyses,Sequence Analyses, DNA,Sequencing, DNA

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