37,X/38,XY Mosaicism in a Cryptorchid Bengal Cat with Müllerian Duct Remnants

Abstract

A 23-month-old tomcat was referred to our clinic because of male behavioral problems, cryptorchidism, and an undefined intra-abdominal organ resembling a uterus. Ultrasonography and computed tomography showed 2 fluid-filled tubular structures dorsolaterally to the bladder and connected to the pelvic urethra. The cat was castrated, and the tubular structures were surgically removed. Histology identified them as Müllerian duct remnants. The testes were hypoplastic, the epididymes and deferent ducts were normal. Cytogenetic analyses revealed the presence of a mosaic 37,X/38,XY karyotype which explains the clinical findings.

Disorder of sex development in a cat with chromosome mosaicism 37,X/38,X,r(Y)

“…A similar case was reported by Balogh et al. (), who described a cryptorchid cat with a mosaic karyotype—37,X[96%]/38,XY[4%]. In both cats, a low proportion of cell lines carrying the Y or der(Y) chromosome was observed, but it may not be excluded that in other tissues and organs, including gonads, the proportion of these cell lines was higher and sufficient to drive gonad development into testes.…”

“…The most common chromosome mutation causing DSD found in cats is XXY trisomy (Pedersen, Berg, Almstrup, & Thomsen, ). However, other abnormalities, such as X monosomy (Szczerbal, Nizanski, et al., ), 37,X/38,XY mosaicism (Balogh et al., ) or X/Y translocation (Szczerbal, Stachowiak, Dzimira, Sliwa, & Switonski, ), have also been reported recently. It is known from human studies that structural rearrangements of the Y chromosome are associated with male infertility or sterility (Dhanoa, Mukhopadhyay, & Arora, ).…”

“…The most common chromosome mutation causing DSD found in cats is XXY trisomy (Pedersen, Berg, Almstrup, & Thomsen, 2014). However, other abnormalities, such as X monosomy (Szczerbal, Nizanski, et al, 2015), 37,X/38,XY mosaicism (Balogh et al, 2015) or X/Y translocation (Szczerbal, Stachowiak, Dzimira, Sliwa, & Switonski, 2015), have also been reported recently.…”

Disorders of sex development in cats with different complements of sex chromosomes

“…This type of abnormality has mainly been diagnosed in tortoiseshell and calico males, heterozygous at the X-linked orange locus (Pedersen, Berg, Almstrup, & Thomsen, 2014). Recently, several cases of DSD cats with other abnormalities were diagnosed, including a nonmosaic X monosomy (Szczerbal, Nizanski, et al, 2015), mosaicism 37,X/38,XY (Balogh et al, 2015), translocation between X and Y chromosomes (Szczerbal, Stachowiak, Dzimira, Sliwa, & Switonski, 2015) and mosaicism with a cell line carrying a ring Y chromosome-37,X/38,X,r(Y) (Szczerbal et al, 2017). These findings suggest that sex chromosome abnormalities in cats are quite common and are not only restricted to XXY trisomy.…”

Fertile male tortoiseshell cat with true chimerism 38,XY/38,XY

“…A number of studies have attempted to study the genetic basis of tortoiseshell coats in male domestic cats. As the orange locus in the cat is X‐linked (Grahn et al., 2005), the most frequently expected cause of this phenotype is the presence of an extra X chromosome in the form of a trisomy XXY, mosaic variants XY/XXY or XY/XYY and also XX/XY chimerism (Balogh et al, 2015; Kosowska, Januszewski, Tokarska, Jach, & Zdrojewicz, 2001; Meyers‐Wallen, 2012; Szczerbal et al., 2018). Therefore, the expected side effect of such a coat is infertility associated with reproductive disorders.…”