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A Disorder of Sex Development in a Holstein–Friesian Heifer with a Rare Mosaicism (60,XX/90,XXY): A Genetic, Anatomical, and Histological Study

Authors :
Izabela Szczerbal
Marcin Komosa
Joanna Nowacka-Woszuk
Tomasz Uzar
Marek Houszka
Jerzy Semrau
Magdalena Musial
Michal Barczykowski
Anna Lukomska
Marek Switonski
Source :
Animals, Vol 11, Iss 2, p 285 (2021)
Publication Year :
2021
Publisher :
MDPI AG, 2021.

Abstract

In this study, we describe an eighteen-month-old Holstein–Friesian heifer with a deformed vulva, located abdominally. The heifer showed typical signs of estrus. A comprehensive anatomical and histopathological examination revealed a blind-ended vagina and an additional section of urethra, which became a part of the shortened penis. Cytogenetic analysis showed the presence of two cell lines: 60,XX and 90,XXY. The frequency of the triploid cell line was low (3%) in leukocytes and elevated (35%) in fibroblasts. The molecular detection of Y-linked genes (SRY and AMELY) in the blood, skin, hair follicles, and buccal epithelial cells confirmed the presence of a cell line carrying the Y chromosome. Genotyping of 16 microsatellite markers in DNA isolated from hair follicles and fibroblast culture showed the presence of one (homozygous) or two variants (heterozygous) at all the studied loci, and allowed chimerism to be excluded. We concluded that the heifer had diploid/triploid (60,XX/90,XXY) mosaicism. To our knowledge, this is only the fifth such case to be reported worldwide in this species. Since cytogenetic studies are routinely performed on in vitro cultured leukocytes, we suspect that the prevalence of this chromosome abnormality is underestimated, as it is known from published reports that the frequency of the triploid cell line is usually very low in leukocytes.

Details

Language :
English
ISSN :
20762615
Volume :
11
Issue :
2
Database :
Directory of Open Access Journals
Journal :
Animals
Publication Type :
Academic Journal
Accession number :
edsdoj.bdb323eee900493a82b0cb9e3294e420
Document Type :
article
Full Text :
https://doi.org/10.3390/ani11020285