Canine gonadal dysgenesis syndrome: a case of mosaicism (77,XO‐78,XX)

Mayenco-Aguirre, A. M.; Padilla, J. A.; Flores, Juana M.; González, M.A. Daza

doi:10.1136/vr.145.20.582

Cited by 8 publications

(4 citation statements)

References 7 publications

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“…This suggests that mosaic and non-mosaic types of X monosomy may occur with similar incidences in dogs, as has also been observed in TS patients (Zhong and Layman 2012). Interestingly, a total of three canine cases (42%) have thus far been diagnosed in Poodle breeds: namely, a Toy Poodle (Mayenco-Aguirre et al 1999), a cross of a Miniature Poodle with a Goldendoodle (Shaffer et al 2021), and a Miniature Poodle (the present case).…”

Section: Resultssupporting

confidence: 80%

“…Seven cases of X monosomy have been reported in dogs to date, including the present case (Smith et al 1989;Löfstedt et al 1992;Mayenco-Aguirre et al 1999;Switonski et al 2003;Shaffer et al 2021). Six of these were studied cytogenetically; three cases were non-mosaics and three were mosaics (77,X/78,XX), with the proportion of the monosomic cell line varying from 5 to 95% (Szczerbal and Switonski 2021).…”

Section: Resultsmentioning

confidence: 71%

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Non-mosaic X monosomy (77,X) in a female dog with signs of virilization

et al. 2022

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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.

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Section: Resultssupporting

confidence: 80%

Section: Resultsmentioning

confidence: 71%

Non-mosaic X monosomy (77,X) in a female dog with signs of virilization

et al. 2022

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“…Two dogs presented with a history of persistent proestrus that failed to progress to estrus. The karyotype was reported as 77,X in the first case [Lofstedt et al, 1992] and 77,X/78,XX in the second [Mayenco-Aguirre et al, 1999]. Gonadal histology was similar in both dogs, in that no follicles or corpora lutea were identified.…”

Section: Monosomy X and Variantsmentioning

confidence: 69%

Gonadal and Sex Differentiation Abnormalities of Dogs and Cats

Meyers-Wallen¹

2011

Sex Dev

100

105

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The molecular steps in normal sexual development were largely discovered by studying patients and animal models with disorders of sexual development (DSD). Although several types of DSD have been reported in the cat and dog, which are often strikingly similar to human DSD, these have been infrequently utilized to contribute to our knowledge of mammalian sexual development. Canine and feline cases of DSD with sufficient evidence to be considered as potential models are summarized in this report. The consensus DSD terminology, and reference to previous terminology, is used to foster adoption of a common nomenclature that will facilitate communication and collaboration between veterinarians, physicians, and researchers. To efficiently utilize these unique resources as molecular tools continue to improve, it will be helpful to deposit samples from valuable cases into repositories where they are available to contribute to our understanding of sexual development, and thus improve human and animal health.

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“…Following this human classification, our cases would be categorized as either ovarian hypoplasia (n = 2; Figure 6), ovarian dysplasia (n = 2, Figure 7), or primary ovarian deficiency (n = 1, Figure 8). Different types of gonadal hypoplasia have been reported in buffalo (27), cattle (20,(28)(29)(30)(31)(32), cats (33), dogs (33,34), horses (35)(36)(37), and sheep (38).…”

Section: Discussionmentioning

confidence: 99%

Clinical and Histological Features of Ovarian Hypoplasia/Dysgenesis in Alpacas

Arroyo¹,

Patino²,

Ciccarelli

et al. 2022

Front. Vet. Sci.

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Alpacas have a high incidence of congenital reproductive tract abnormalities, including ovarian hypoplasia/dysgenesis. Diagnosis of this condition is often challenging. The present study describes the clinical, ultrasonographic, and histologic features of ovarian hypoplasia/dysgenesis syndrome in 5 female alpacas. Additionally, serum AMH levels were compared between female alpacas diagnosed with ovarian hypoplasia/dysgenesis and a group of reproductively sound females (n = 11). The syndrome was suspected based on the presence of an infantile uterus and lack of ovaries by ultrasonography and laparoscopy. All females had normal female karyotype (n = 74 XX), but one presented a minute chromosome. The ovaries from these cases showed 3 main histological classifications: hypoplasia (n = 2), dysgenesis (n = 2), and dysplasia (n = 1). Serum AMH levels in affected females were significantly lower (P < 0.05) than those of reproductively sound control females. In conclusion, Serum AMH level may be helpful in the rapid diagnosis of ovarian hypoplasia/dysgenesis syndrome in alpacas. Furthermore, this syndrome in alpacas presents a variety of histological features. Different mechanisms may be involved in the derangement of ovarian differentiation. Further studies are needed to elucidate the causes of the syndrome.

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Canine gonadal dysgenesis syndrome: a case of mosaicism (77,XO‐78,XX)

Cited by 8 publications

References 7 publications

Non-mosaic X monosomy (77,X) in a female dog with signs of virilization

Non-mosaic X monosomy (77,X) in a female dog with signs of virilization

Gonadal and Sex Differentiation Abnormalities of Dogs and Cats

Clinical and Histological Features of Ovarian Hypoplasia/Dysgenesis in Alpacas

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