First Description of Scrotal Testicles in a Dog Affected by 78, XX Testicular Disorder of Sex Development

Carro, AP Del; Rosset, Émilie; Josson-Schramme, Anne; Lambert, Véronique; Buff, Samuel

doi:10.1111/rda.12382

Cited by 5 publications

(4 citation statements)

References 26 publications

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“…In 2 cases, the urethral orifice was located atypically on the penis-like structure. This rare abnormality, resembling hypospadias in males, had been described earlier in XX DSD Cocker Spaniel and Miniature Pinscher females with a rudimentary penis or enlarged clitoris [Switonski et al, 2012;Del Carro et al, 2014]. In both cases, the location of the urethral orifice was on the ventral surface of the enlarged clitoris, as described here in case 6.…”

Section: Discussionsupporting

confidence: 79%

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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Section: Discussionsupporting

confidence: 79%

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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“…These animals usually present Wolffian duct derivates, like the epididymides, and a more or less rudimentary vas deferens [8,15,17,23], along with persistence of a uterus. Albeit the existence of a prostate has been described in some cases [32,33], in my professional practice the prostate was never located by digital palpation, visualized during surgery, nor reported by any other authors [8,16].…”

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confidence: 95%

Disturbed Ovarian Differentiation in XX;SRY-Negative Dogs

Payan-Carreira¹

2018

obm genet

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In a mammal, at the beginning of its development, the gonad is bipotential. The shift into a male or female pathway is coordinated by the sex chromosomal complement, which triggers a series of genetic pathways signaling the developmental pattern of the gonadal anlage. Being mutually exclusive, the differentiated gonad should be either a testis or an ovary. In females, the absence of SRY, a testis-determining gene, drives the signaling cascades controlling the ovarian differentiation. Albeit rare, disorders of the gonadal differentiation may occur in men and domestic animals and may cause infertility or sterility. In dogs, the XX;SRY-negative disorder of sexual development (DSD) is the most frequent condition. The disorder typically presents a wide spectrum of developmental conditions of the gonad and variable virilization of the genital phenotype, that may be accompanied by hypospadias. This condition may be inherited as a sex-limited autosomal recessive trait; however, the mechanism explaining its occurrence remains poorly understood. This review intends to present an overview of the morphologic features of XX;SRY-negative syndrome in dogs, while addressing the current knowledge regarding the genetic mechanism underlying this condition.

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“…The gonads in XX DSD dogs are usually located abdominally; however, the presence of scrotal testes has recently been reported [Del Carro et al, 2014].…”

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confidence: 99%

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

Szczerbal

Nowacka‐Woszuk²,

Dzimira³

et al. 2016

Sex Dev

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Testicular or ovotesticular disorder of sex development (DSD) in genetic females (78,XX; SRY-negative) has been reported quite frequently in numerous dog breeds and is usually diagnosed due to the presence of female external genitalia with an enlarged clitoris. The molecular background of this disorder, diagnosed also in human and other mammals, is not fully understood. However, it has recently been proposed that a copy number variation (CNV) in the region upstream of the SOX9 gene is associated with it. We described a rare case of this disorder in a French Bulldog with abdominal testes and male external genitalia (a slightly malformed penis). FISH studies showed a female karyotype, lack of a translocation involving the Y chromosome, and a distinct size variation in the CNV region (CNVR) upstream of the SOX9 gene, located on chromosome 9 (CFA9). A large FISH variant on a single CFA9 and a lack of the variant on its homologue was observed. Surprisingly, in the mother of this DSD dog, 2 normal-sized variants were identified which means that the CNV in the DSD dog was de novo. Our observations are in agreement with earlier suggestions that a high number of copies at the CNVR upstream of SOX9 may be associated with this type of DSD.

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First Description of Scrotal Testicles in a Dog Affected by 78, XX Testicular Disorder of Sex Development

Cited by 5 publications

References 26 publications

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

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

Disturbed Ovarian Differentiation in XX;SRY-Negative Dogs

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

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