Peer-reviewed veterinary case report
Segmental Cervical Aplasia in a Colombian Creole Mare with Mosaic X-Chromosome Aneuploidy.
- Journal:
- Journal of equine veterinary science
- Year:
- 2021
- Authors:
- Pinzón-Osorio, César Augusto et al.
- Affiliation:
- College of Veterinary Medicine · Brazil
- Species:
- horse
Plain-English summary
A 4-year-old Colombian Creole mare was brought in for evaluation because her cervix was not visible during a procedure to treat fluid buildup in her uterus. Tests, including an ultrasound, showed that her ovaries were normal and functioning, but there was fluid in the uterus. A vaginal exam revealed that the cervix was missing, ending instead in a small pouch. Further testing indicated that the mare had a genetic abnormality involving her X chromosomes, leading to a diagnosis of congenital segmental cervical aplasia, which means she was born without part of her cervix. This is the first known case of this condition in a mare with normal ovarian function and a specific genetic makeup.
Abstract
A 4-year-old Colombian Creole mare was presented for diagnosis because the external orifice of her cervix was not detectable when a uterine lavage as therapy for uterine fluid accumulation was attempted. Clinical and ultrasonographic evaluation of the genital tract revealed that ovaries were of normal size and showed structures suggestive of regular ovarian activity. However, granular free-floating fluid material distending the uterus was detected by ultrasound. Upon vaginal examination, the normal external cervical morphology was not evident. The vagina ended in a blind bag with a small papilla with no evident external cervical os. Cytology of uterine fluid obtained by transvaginal aspiration showed findings compatible with mucometra. Cytogenetic analysis revealed an abnormal karyotype (63,X and 64,XX both 45% and 65,XXX 10%). A diagnosis of congenital segmental cervical aplasia was proposed possibly related to the mosaicism detected. To our knowledge, this is the first case of this reproductive pathology in a mare with regular ovarian activity and confirmed aneuploidy in mosaic form of the X sex chromosome.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/34607685/