A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; &lt;b&gt;&lt;i&gt;SRY&lt;/i&gt;&lt;/b&gt;-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the &lt;b&gt;&lt;i&gt;SOX9&lt;/i&gt;&lt;/b&gt; Gene

Szczerbal, Izabela; Nowacka‐Woszuk, Joanna; Dzimira, Stanisław; Atamaniuk, Wojciech; Niżański, Wojciech; Świtoński, M.

doi:10.1159/000445464

Cited by 15 publications

(19 citation statements)

References 25 publications

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“…Therefore, we can assume the presence of functional testicles, at least for the production of the necessary hormones for the development of a penis. This condition was recently reported in a dog [Szczerbal et al, 2016].…”

Section: Resultssupporting

confidence: 62%

Testicular XX (SRY-Negative) Disorder of Sex Development in Cat

Lorenzi

Banco²,

Previderé³

et al. 2017

Sex Dev

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In most mammals, the sex of an individual is genetically determined by the Y chromosome-specific SRY gene. The presence of at least one functional copy of this gene determines the development of the primordial gonads into testes. However, testicular tissue does develop in the absence of SRY, albeit rarely, which is the case in testicular XX (SRY-negative) disorder of sex development (DSD). This condition is very important for studying the process of sexual determination because it allows the identification of genetic factors that are able to promote the male developmental pathway in the absence of SRY and thereby enables a better understanding of this process. Until now, this condition has been identified in various animal species but has never been reported in cat. In this study, we describe the first case of an XX (SRY-negative) DSD cat. The cat possesses a tortoiseshell coat associated with male-like external genitalia, including normal scrotum with 2 palpably normal testicles. Histological analysis confirmed the presence of the testes, and cytogenetic and genetic analyses showed a female karyotype associated with the absence of the SRY gene. Finally, sequencing of the RSPO1 gene revealed no mutation, and FISH analysis of the SOX9 locus did not reveal any large abnormalities.

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Section: Resultssupporting

confidence: 62%

Testicular XX (SRY-Negative) Disorder of Sex Development in Cat

Lorenzi

Banco²,

Previderé³

et al. 2017

Sex Dev

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“…DNA from blood samples was isolated using Blood Mini and Genomic Mini kits (A&A Biotechnology), respectively. The presence of the sex chromosome-linked genes ( SRY, ZFY, and ZFX ) was detected using PCR and RFLP techniques as described earlier [Switonski et al, 2012;Szczerbal et al, 2016].…”

Section: Pcr Detection Of Sex Chromosome-linked Genesmentioning

confidence: 99%

Disorders of Sex Development Are an Emerging Problem in French Bulldogs: A Description of Six New Cases and a Review of the Literature

Szczerbal

Nowacka‐Woszuk

Niżański

et al. 2019

Sex Dev

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nosed. In conclusion, we postulate that the description of the sexual phenotype of DSD females (enlarged clitoris and presence of testicular tissue) does not distinguish between hereditary XX DSD and nonhereditary freemartinism. Cytogenetic and molecular analyses are thus necessary to correctly diagnose such cases. This is especially important for the French bulldog breed, as a rapid increase in its population could spread hereditary DSD. © 2020 S. Karger AG, Basel Disorders of sex development (DSD) are a well-known cause of sterility and reduced fertility in domestic mammals, including dogs. They can be classified by sex chromosome constitution into 3 major categories: (a) DSD caused by an abnormal set or structure of sex chromosomes, called sex chromosome DSD; (2) DSD with a normal female set of sex chromosomes, referred to as XX DSD, and (3) DSD with a normal complement of male chromosomes, XY DSD [Poth et al., 2010;Meyers-Wallen, 2012]. Moreover, information about the presence or absence of the SRY gene, which is crucial for male development, can bring additional knowledge about the DSD Keywords CNV · Dog · Freemartinism · Hypospadias · Intersexuality · SOX9 Abstract Disorders of sex development (DSD) are a well-known cause of sterility and reduced fertility in dogs. Here, we report on 6 new cases of DSD in French bulldogs diagnosed by us within the last year. The animals were phenotypical females who underwent detailed diagnosis due to the presence of an enlarged clitoris or a penis-like structure with atypically located urethral orifice (hypospadias). A female karyotype (78,XX) and lack of Y-linked genes ( SRY and ZFY ) were observed in 5 cases, which were classified as XX ( SRY -negative) DSD. Gonads histology could be performed in 4 XX DSD cases: testicular tissue was observed in 3 cases and ovotesticular tissue in 1 case. In the last case, leukocyte chimerism (XX/XY) was detected alongside an ovotestis with epididymis and fallopian tubes. This case was classified as freemartinism. Our study and a literature review showed that heritable XX ( SRY -negative) DSD is quite common in French bulldogs, but spontaneously developed freemartinism can be also diag-

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“…For the first time in literature, they clearly showed that two of them carried SOX9 gene duplication. Recently, Szczerbal et al () have observed a distinct size variation in the copy number variation (CNV) region upstream of the SOX9 gene in a French bulldog with abdominal testes and male external genitalia. The dog manifested as a female karyotype (78, XX; SRY ‐negative) with no translocation involving the Y chromosome.…”

Section: Discussionmentioning

confidence: 99%

A comprehensive study of disorder of sex development in Staffordshire bull terrier dog

Horňáková

Dianovský

Holečková

et al. 2019

Reprod Domestic Animals

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An 8‐month‐old female Staffordshire bull terrier was clinically examined because of external sexual organs abnormality—clitoral hypertrophy. As stated by the owner, the female dog had not been in heat yet. Serum profile of testosterone (3.39 ng/ml), as well as an anti‐Műllerian hormone (24.0 ng/ml), suggested the presence of testicular tissue. On the contrary, the estimated level of 17β‐oestradiol (24.6 pg/ml) was approximately two times higher when compared with the normal anoestrus values (5–10 pg/ml). A midline laparotomy was performed to detect the cranial parts of the genital system. Gonads resembling testicle or ovotestis (left) and hypoplastic testicle (right) was visible. Cranial portion of gonads was attached to structures indicative of bilateral epididymidis. The next tubular structures—oviducts were resected along with adherent parts of a hypoplastic uterus. Histological evaluation confirmed that the examined gonad samples were testicles with modified interstitial testicular tissue. Hypertrophy of interstitial space was predominantly formed by Leydig cells. Examination of a cross‐section through the head of suspected epididymidis confirmed their characteristic structures. In addition, the characteristic configuration of the oviducts was presented. The uterus consisted of three walls, in which the endometrium was hypoplastic with the presence of endometrial glands. No Y chromosome was detected by chromosomal analysis using CFA Y probe and the amplification of SRY‐gene coding region (813 bp) indicated genotype 78, XX; SRY‐negative. Sequencing of SOX9 gene exons 1–3 did not reveal any differences in exon 1 and 3. On the contrary, a few changes were determined in the SOX9 exon 2 sequences: G instead of A at position 103; C instead of reference T at position 115; GCG instead of reference CGC at position 138–140; T instead of reference C at positions 161, 164 and 167.

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A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; <b><i>SRY</i></b>-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the <b><i>SOX9</i></b> Gene

Cited by 15 publications

References 25 publications

Testicular XX (<b><i>SRY</i></b>-Negative) Disorder of Sex Development in Cat

Testicular XX (<b><i>SRY</i></b>-Negative) Disorder of Sex Development in Cat

Disorders of Sex Development Are an Emerging Problem in French Bulldogs: A Description of Six New Cases and a Review of the Literature

A comprehensive study of disorder of sex development in Staffordshire bull terrier dog

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