Journal of applied genetics · 2022
Non-mosaic X monosomy (77,X) in a female dog with signs of virilization.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Szczerbal Izabela, Malek Emilian, Rigillo Antonella, Lukomska Anna, Kacprzak Kamil, Gasparini Stefania, Nowacka-Woszuk Joanna, Stachowiak Monika, Aksoy Mehmet O, Switonski Marek
Аннотация
A 14-month-old female Miniature Poodle dog with an enlarged clitoris and asymmetry in the placement of the teats was subjected to clinical, histopathological, and genetic studies. Macroscopically, the uterus and fallopian tubes appeared normal, while both ovaries were diffusely altered. At histology, the ovarian parenchyma was almost completely effaced by a diffuse hyperplasia of theca cells with atretic primary follicles. Chromosome analysis showed pure (non-mosaic) X monosomy (77,X). This finding was confirmed by the highly sensitive droplet digital PCR (ddPCR) approach. Despite the observed virilization, molecular analysis did not show the presence of Y-linked genes (SRY, ZFY, and TSPY1) in the blood cells or ovary tissue. To the best of our knowledge, this is the first case of X monosomy in a dog associated with virilization.