Language: English French. A combination of gastrointestinal and urogenital congenital abnormalities was diagnosed and surgically treated in a kitten. Physical examination, exploratory laparotomy, castration, histological examination, and cytogenetic karyotyping were utilized to determine the true gender of the kitten. The kitten was confirmed to be a male 38 XY pseudohermaphrodite with Type II atresia ani and rectovaginal fistula. At physical examination, the kitten appeared bright and alert. Moderate abdominal distension associated with the presence of impacted feces was evident on palpation.
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Language: English French. A combination of gastrointestinal and urogenital congenital abnormalities was diagnosed and surgically treated in a kitten. Physical examination, exploratory laparotomy, castration, histological examination, and cytogenetic karyotyping were utilized to determine the true gender of the kitten. The kitten was confirmed to be a male 38 XY pseudohermaphrodite with Type II atresia ani and rectovaginal fistula.
At physical examination, the kitten appeared bright and alert. Moderate abdominal distension associated with the presence of impacted feces was evident on palpation.
Examination revealed a perineal bulge without an anal opening and edemateous vulva with perivulvar fecal soiling. The physical examination identified no other abnormalities.
A presumptive diagnosis of atresia ani with associated rectovaginal fistula was made. Radiographs in lateral and ventro-dorsal views showed that the contrast medium passed into the colon from the vagina through a small fistula. The rectal blind pouch and the fistula were located directly below the imperforated anal membrane Type II atresia ani. Megacolon was not diagnosed upon examination.
The congenital defect was corrected surgically. The reconstruction of the anus and anal canal was achieved using the fistula as a local flap in combination with a vaginoplasty, as previously described 1. The kitten recovered uneventfully and fecal and urinary continence were preserved.
Four months after the surgery, gross examination of the perianal region revealed a small penis-like clitoris, with small penile spines, protruding from the ventral commissure of the vulva. Two non-fused scrotal sacs were present bilateral to the penis-like clitoris and the gonads were palpated in both pouches Figure 1. A tentative diagnosis of pseudohermaphrodite was made.
Exploration of intra-abdominal genital structures, castration, cytogenetic karyotyping, and histological examination of the gonadal tissue were planned to investigate the extent of reproductive abnormalities. During surgical exploration the patient was examined for mullerian duct remnants.
However, there was no evidence of development of this duct system. The gonads had the physical appearance of normal testes with a grossly normal epididymis caput, corpus, and cauda. They were removed and submitted for histopathological examination. Perineal view of the 7-month-old cat with sexually ambiguous external genitalia, 4 mo after anal reconstruction surgery.
Note the small penis-like clitoris, with small penile spines and two non-fused scrotal sacs bilateral to the penis-like clitoris. The microscopic features were similar in both gonads. Seminiferous tubules were present, but moderately decreased in size and number. There was a reduced number of gamete precursors spermatogonia and spermatocytes. The presence of spermatozoa was rare in the rete testis and the epididymal ducts. Leydig cells, the male endocrine cells, were observed in the testicular interstitial tissue.
A blood sample was obtained for genetic analysis. The fixed cells were spread on cleaned slides and chromosomes subjected to the G-bands by trypsin using Giemsa GTG procedure. Approximately 30 cells with well-spread chromosomes were analyzed. The modal chromosome number was 38 including one X and one Y chromosome Figure 4.
These investigations confirmed that the kitten was indeed a male 38 XY pseudohermaphrodite with Type II atresia ani and rectovaginal fistula. The seminiferous tubules star are decreased in size with a reduced number of germinal cells. The epididymal ducts are empty arrow. Note germinal cells arrowhead and Leydig cells arrow. Abnormalities in gender differentiation arise when errors in the establishment of chromosomal, gonadal, or phenotypic gender occur 2.
Chromosomal sex is established at the time of fertilization XX or XY. Congenital sexual abnormalities occur during embryogenesis. Intersex is a generic term used for individuals that present simultaneously male and female internal or external genitalia or ambiguous or hypoplastic external genitalia 3.
True hermaphroditism is an uncommon 4 abnormality of chromosomal or gonadal gender, typically characterized by histological evidence of ovarian and testicular tissue on the same gonad ovotestis , or the presence of an ovary on 1 side and a testicle on the opposite side lateral hermaphroditism 3. Pseudohermaphroditism is an abnormality of phenotypic gender, which refers to presence of gonads of 1 gender only and alteration of 1 or more of the other criteria for gender identification 5.
Male pseudohermaphroditism in cats has been previously described in rare cases 6 — 9 , but not in association with other anomalies. Sexual differentiation is related to urinary and gastrointestinal embryological development. During the early period of gestation, in sexually undifferentiated embryos, the gastrointestinal, urinary, and reproductive tracts initially communicate in a cloacal opening.
This embryonic cloaca consists of the rectum and urogenital sinus which are separated by the urorectal fold. The urogenital sinus differentiates into the urinary bladder and the urethra.
The caudal part of the vagina develops from sinovaginal buds that originate from the epithelium of the dorsal wall of the urogenital sinus 10 , Atresia ani has been assigned to 4 categories: congenital anal stenosis Type I , imperforatus anus alone Type II or combined with more cranial termination of the rectum as a blind pouch Type III , and discontinuity of the proximal rectum with normal anal and terminal rectal development Type IV Type II atresia ani is often associated with a rectovaginal fistula between the dorsal wall of the vagina and the ventral portion of the rectum Few cases of Type II atresia ani associated with rectovaginal fistula have been previously reported in female cats 1 , 14 — In our case, the cat was a genetic XY male and the gonads were differentiated into testes, with external genitalia of both male and female.
Furthermore, these phenotypic anomalies were associated with Type II atresia ani and rectovaginal fistula. Pseudohermaphroditism associated with urogenital abnormalities such as ectopic ureters has been previously described in dogs 17 , A combination of pseudohermaphroditism, urogenital, and anorectal abnormalities has never been reported in small animals.
One-third of human patients with anorectal malformations may have other congenital anomalies The etiology of these congenital defects is unknown and an inheritable nature could be suspected. In the feline cases of Type II atresia ani and rectovaginal fistula 1 , 15 , 16 , some kittens were from the same queen.
Based on these findings, spaying of the affected females should be recommended 1. This report describes the first confirmed case of association of phenotypic gender male pseudohermaphroditism , anorectal atresia ani and urogenital rectovaginal fistula abnormalities in a kitten. Diagnosis was made by clinical evaluation, vaginography, abdominal surgical exploration, cytogenetic karyotyping, and histological examination of gonadal tissue. Patients suspected of sexual development disorders should be submitted to analysis of the chromosomal constitution and complete gross and histopathological characterization of the gonads.
The authors thank Dr. Santos, and Miss A. Calgaro for their help. Use of this article is limited to a single copy for personal study. Anyone interested in obtaining reprints should contact the CVMA office gro. National Center for Biotechnology Information , U. Journal List Can Vet J v. Can Vet J. Author information Copyright and License information Disclaimer. Address all correspondence to Dr. Rosario Vallefuoco; e-mail: moc. This article has been cited by other articles in PMC.
Abstract A combination of gastrointestinal and urogenital congenital abnormalities was diagnosed and surgically treated in a kitten. Traduit par les auteurs. Open in a separate window. Figure 1. Figure 2. Figure 3. Figure 4. Karyotype of the cat demonstrating the normal male sex chromosome pattern. Discussion Abnormalities in gender differentiation arise when errors in the establishment of chromosomal, gonadal, or phenotypic gender occur 2.
Acknowledgments The authors thank Dr. Footnotes Use of this article is limited to a single copy for personal study. References 1. A fistula flap technique for correction of Type II atresia ani and rectovaginal fistula in six kittens. Vet Surg. Lyle SK. Disorders of sexual development in the dog and cat. Romagnoli S, Shlafer DH. Disorders of sexual differentiation in puppies and kittens: A diagnostic and clinical approach. Vet Clin Small Anim Pract. Johnston SD.
Disorders of the feline testes and epididymides. Canine and Feline Theriogenology. Philadelphia, Pennsylvania: Saunders WB;
Successful management of atresia ANI (congenital defect) in non-descript calf: A case report
Congenital anomalies of the rectum and anus are rare in dogs. The most frequently reported anomaly is atresia ani. Four types of atresia ani have been reported, including congenital anal stenosis Type I ; imperforate anus alone Type II or combined with more cranial termination of the rectum as a blind pouch Type III ; and discontinuity of the proximal rectum with normal anal and terminal rectal development Type IV. An increased incidence was found in females and in several breeds, including miniature or toy poodles and Boston terriers.
Type II atresia ani associated with rectovaginal fistula in a male pseudohermaphrodite kitten
Original Article. A collective review of cases with imperforate anus managed in a Teaching Hospital. Jamal S. Kamal, Osama M. Rayes, Mazen O.
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