Non-mosaic monosomy 59,X in cattle: a case report.

Autor: Romano JE; 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., Raussdepp T; Veterinary Integrative Biosciences, College of Veterinary Medicine & Biomedical Sciences, Texas A&M University, College Station, TX 77843-4475, USA., Mulon PY; Large Animal Clinical Sciences, College of Veterinary Medicine & Biomedical Sciences, Texas A&M University, College Station, TX 77843-4475, USA., Villadóniga GB; St Joseph Regional Health Center, Pediatric Services, Bryan, TX 77802, USA.
Jazyk: angličtina
Zdroj: Animal reproduction science [Anim Reprod Sci] 2015 May; Vol. 156, pp. 83-90. Date of Electronic Publication: 2015 Mar 16.
DOI: 10.1016/j.anireprosci.2015.03.004
Abstrakt: 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.
(Copyright © 2015 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE