The first case of 38,XX (SRY-positive) disorder of sex development in a cat

Molecular Cytogenetics

Volumn 8, Issue 1, 2015, Pages

  Szczerbal, Izabela ^a   Stachowiak, Monika ^a   Dzimira, Stanislaw ^b   Sliwa, Krystyna ^c   Switonski, Marek ^a  

^a POZNA UNIVERSITY OF LIFE SCIENCES   (Poland)

^b WROC AW UNIVERSITY OF ENVIRONMENTAL AND LIFE SCIENCES   (Poland)

^c Veterinary Practice ^*  (Poland)

Author keywords

Cat; Disorder of sex development; DSD; Intersexuality; SRY; Translocation X Y; X chromosome inactivation

Indexed keywords

TESTIS DETERMINING FACTOR;

ANIMAL MODEL; ARTICLE; CAT; CHIMERA; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME R BAND; CHROMOSOME TRANSLOCATION; CHROMOSOME YP; CONTROLLED STUDY; CYTOGENETICS; DISORDER OF SEX DEVELOPMENT; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENETIC ANALYSIS; GIEMSA STAIN; HISTOPATHOLOGY; KARYOTYPE; MALE; MOLECULAR GENETICS; NONHUMAN; PENIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCROTUM; SRY GENE; SRY POSITIVE 38,XX DISORDER OF SEX DEVELOPMENT; TRISOMY; X CHROMOSOME; X CHROMOSOME INACTIVATION; Y CHROMOSOME LINKED DISORDER;

ANIMALIA;

EID: 84926457202     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-015-0128-5     Document Type: Article

References (25)

1. Jiménez R, Barrionuevo FJ, Burgos M. Natural exceptions to normal gonad development in mammals. Sex Dev. 2013;7:147-62.
2. Meyers-Wallen VN. Gonadal and sex differentiation abnormalities of dogs and cats. Sex Dev. 2012;6:46-60.
3. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003;88:622-6.
4. Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Clinical review: Klinefelter syndrome-a clinical update. J Clin Endocrinol Metab. 2013;98:20-30.
5. Pedersen AS, Berg LC, Almstrup K, Thomsen PD. A tortoiseshell male cat: chromosome analysis and histologic examination of the testis. Cytogenet Genome Res. 2014;142:107-11.
6. Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46, XX male syndrome, compared with 47, XXY Klinefelter patients. J Clin Endocrinol Metab. 2007;92:3458-65.
7. Visootsak J, Graham Jr JM. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006;1:42.
8. Leaman T, Rowland R, Long SE. Male tortoiseshell cats in the United Kingdom. Vet Rec. 1999;144:9-12.
9. Raudsepp T, Das PJ, Avila F, Chowdhary BP. The pseudoautosomal region and sex chromosome aneuploidies in domestic species. Sex Dev. 2012;6:72-83.
10. Li G, Davis BW, Raudsepp T, Pearks Wilkerson AJ, Mason VC, Ferguson-Smith M, et al. Comparative analysis of mammalian Y chromosomes illuminates ancestral structure and lineage-specific evolution. Genome Res. 2013;23:1486-95.
11. Nakashima S, Ohishi A, Takada F, Kawamura H, Igarashi M, Fukami M, et al. Clinical and molecular studies in four patients with SRY-positive 46, XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements. J Hum Genet. 2014;59:549-53.
12. Bouayed Abdelmoula N, Portnoi MF, Keskes L, Recan D, Bahloul A, Boudawara T, et al. Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature. Ann Genet. 2003;46:11-8.
13. Sharp A, Kusz K, Jaruzelska J, Tapper W, Szarras-Czapnik M, Wolski J, et al. Variability of sexual phenotype in 46, XX(SRY+) patients: the influence of spreading X inactivation versus position effects. J Med Genet. 2005;42:420-7.
14. Szczerbal I, Nizanski W, Dzimira S, Nowacka-Woszuk J, Ochota M, Switonski M. X monosomy in a virilized female cat. Reprod Domest Anim 2015;50:344-8.
15. Vallefuoco R, Alleaume C, Jardel N, Maenhoudt C, Cordonnier N. Type II atresia ani associated with rectovaginal fistula in a male pseudohermaphrodite kitten. Can Vet J. 2013;54:475-8.
16. Reynolds BS, Pain A, Meynaud-Collard P, Nowacka-Woszuk J, Szczerbal I, Switonski M, et al. Partial urorectal septum malformation sequence in a kitten with disorder of sexual development. J Feline Med Surg. 2014;16:1016-9.
17. Nowacka-Woszuk J, Szczerbal I, Salamon S, Kociucka B, Jackowiak H, Prozorowska E, et al. Testicular disorder of sex development in four cats with a male karyotype (38, XY; SRY-positive). Anim Reprod Sci. 2014;151:42-8.
18. Owens SL, Downey ME, Pressler BM, Birkenheuer AJ, Chandler DW, Scott-Moncrieff JC. Congenital adrenal hyperplasia associated with mutation in an 11β-hydroxylase-like gene in a cat. J Vet Intern Med. 2012;26:1221-6.
19. Schlafer DH, Valentine B, Fahnestock G, Froenicke L, Grahn RA, Lyons LA, et al. A case of SRY-positive 38, XY true hermaphroditism (XY sex reversal) in a cat. Vet Pathol. 2011;48:817-22.
20. Eggers S, Sinclair A. Mammalian sex determination - insights from humans and mice. Chromosome Res. 2012;20:215-38.
21. Iannuzzi L, Di Berardino D. Tools of the trade: diagnostics and research in domestic animal cytogenetics. J Appl Genet. 2008;49:357-66.
22. Cho KW, Youn HY, Watari T, Tsujimoto H, Hasegawa A, Satoh H. A proposed nomenclature of the domestic cat karyotype. Cytogenet Cell Genet. 1997;79:71-8.
23. Luo SJ, Johnson WE, David VA, Menotti-Raymond M, Stanyon R, Cai QX, et al. Development of Y chromosome intraspecific polymorphic markers in the Felidae. J Hered. 2007;98:400-13.
24. Pearks Wilkerson AJ, Raudsepp T, Graves T, Albracht D, Warren W, Chowdhary BP, et al. Gene discovery and comparative analysis of X-degenerate genes from the domestic cat Y chromosome. Genomics. 2008;92:329-38.
25. Szczerbal I, Foster HA, Bridger JM. The spatial repositioning of adipogenesis genes is correlated with their expression status in a porcine mesenchymal stem cell adipogenesis model system. Chromosoma. 2009;118:647-63.