title: Non-mosaic monosomy 59,X in cattle: a case report.
abstract: A 3-year-old Longhorn heifer was referred to the Veterinary Medical Teaching Hospital of Texas A&M University for inability to get pregnant. Physical examination revealed a small-sized female for age and breed with a normal vulva, vaginal length, and external cervical os. Further assessment by per rectum palpation and trans-rectal ultrasonography revealed a small uterine cervix and cord-like uterine horns with no identifiable ovaries. Additional evaluation including laparoscopy, hormonal evaluation, and genetic analysis allowed ruling out conditions commonly associated with a phenotypic female with infantile or underdeveloped reproductive organs such as freemartin, XY gonadal dysgenesis, testicular feminization, and bilateral ovarian agenesis. Laparoscopy confirmed the presence of a small cervix with small uterine horns and absence of ovaries. Testosterone, progesterone, and 17-β estradiol concentrations were 200.0pg/mL, 1.48ng/mL, and undetectable, respectively. Genetic evaluation determined that the karyotype was 59,X non-mosaic. Evaluation of phenotypically female cattle with infertility and infantile genital organs and absence of ovaries should include cytogenetic analysis to test for possible X monosomy. The 59,X condition should be considered in the differential diagnoses together with freemartin, dysgenesis XY, testicular feminization, and bilateral ovarian agenesis.
authors.affiliation: Large Animal Clinical Sciences, College of Veterinary Medicine & Biomedical Sciences, Texas A&M University, College Station, TX 77843-4475, USA. Electronic address: jromano@cvm.tamu.edu.
authors.forename: Juan E
authors.initials: JE
authors.lastname: Romano
authors.affiliation: Veterinary Integrative Biosciences, College of Veterinary Medicine & Biomedical Sciences, Texas A&M University, College Station, TX 77843-4475, USA.
authors.forename: Terje
authors.initials: T
authors.lastname: Raussdepp
authors.affiliation: Large Animal Clinical Sciences, College of Veterinary Medicine & Biomedical Sciences, Texas A&M University, College Station, TX 77843-4475, USA.
authors.forename: Pierre Y
authors.initials: PY
authors.lastname: Mulon
authors.affiliation: St Joseph Regional Health Center, Pediatric Services, Bryan, TX 77802, USA.
authors.forename: Graciela B
authors.initials: GB
authors.lastname: Villadóniga
mesh_terms: D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000151:congenital*; D005260:Female; D006059:Gonadal Dysgenesis / Q000662:veterinary*; D059785:Karyotype; D012729:Sex Chromosome Aberrations / Q000662:veterinary*
keywords: 59,X; Absence of ovaries; Aneuploidy; Cattle; Genital organs