title: Disorder of sexual development in a Yorkshire terrier (78, XY; SRY-positive).
abstract: A 9-month-old Yorkshire terrier was admitted to the clinic because of abnormal sexual behaviour and clitoral hypertrophy. External examination confirmed standard development of caudal genital organs: vagina, vulva and cervix uteri. Serum profile of gonadotropin hormones 17 β-estradiol (<10.0 pg.ml(-1)) and testosterone (9.1 ng.ml(-1)) revealed the presence of testicular tissue. A midline laparotomy was performed to detect the cranial parts of the genital system. Gonads resembling testicles, structures indicating epididymis and rudimentary deferent ducts were resected, along with adherent part of the uterus. Cytogenetic analysis showed a male chromosomal complement 78, XY in all metaphases of the studied Yorkshire terrier dog. The chromosomal constitution was confirmed by fluorescence in situ hybridisation (FISH) with whole-chromosome painting probes specific for chromosomes X and Y, as well as by polymerase chain reaction (PCR) amplification of the 271-bp Y-linked fragment of SRY (the sex-determining region on the Y chromosome) gene. Sequencing of the dog's SRY gene coding region did not reveal any mutation. To search for potential mutation in the SOX9 gene (Sry-box containing gene 9), which is considered to be one of the key genes involved in the sex determination process, the PCR fragments of exons 1, 2 and 3 originating from the canine patient were sequenced in order to compare with both male and female healthy control dogs. In the analysed regions of the SOX9 gene, no mutation was found.
authors: Department of Biology and Genetics, University of Veterinary Medicine and Pharmacy, Komenského 73, 041 81, Košice, Slovak Republic.
authors: Ján
authors: J
authors: Dianovský
authors: Beáta
authors: B
authors: Holečková
authors: Jaroslav
authors: J
authors: Hajurka
authors: Katarina
authors: K
authors: Šiviková
authors: Viera
authors: V
authors: Cigánková
mesh_terms: D000818:Animals; D012734:Disorders of Sex Development / Q000235:genetics / Q000662:veterinary*; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005260:Female; D024282:Genes, sry; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D016133:Polymerase Chain Reaction; D012732:Sex Determination Analysis; D013737:Testis / Q000378:metabolism / Q000473:pathology
references: Clin Genet. 2000 Sep;58(3):224-7
references: 11076045
references: Sex Dev. 2008;2(2):84-95
references: 18577875
references: J Hered. 2005 Jul-Aug;96(4):452-4
references: 15814894
references: Vet Rec. 2003 Apr 19;152(16):502-4
references: 12733559
references: Chromosome Res. 1996 Jun;4(4):306-9
references: 8817072
references: Clin Dysmorphol. 2005 Apr;14(2):93-96
references: 15770132
references: Reprod Domest Anim. 2010 Aug;45(4):743-5
references: 19210664
references: Vet Clin North Am Small Anim Pract. 2012 May;42(3):515-26, vi
references: 22482816
references: Reprod Biol Endocrinol. 2011 Jan 21;9:12
references: 21255434
references: Sex Dev. 2012;6(1-3):46-60
references: 22005097
references: Anim Reprod Sci. 2007 Apr;98(3-4):371-6
references: 16737788
references: J Am Vet Med Assoc. 1976 Oct 15;169(8):821-5
references: 10267
references: J Hered. 2005;96(7):797-802
references: 16150950
references: Anim Reprod Sci. 2010 Sep;121(3-4):197-207
references: 20537823
references: Folia Biol (Krakow). 2009;57(3-4):171-6
references: 19777961
references: Theriogenology. 2007 Aug;68(3):338-43
references: 17482251
references: Sex Dev. 2011;5(3):141-6
references: 21430365
references: Lancet. 1971 Oct 30;2(7731):971-2
references: 4107917
references: Sex Dev. 2012;6(1-3):143-50
references: 21921590
references: J Am Vet Med Assoc. 1982 Oct 15;181(8):798-801
references: 7141975
references: J Reprod Fertil Suppl. 2001;57:435-8
references: 11787187
references: Vet Rec. 2000 Apr 29;146(18):532-3
references: 11321217
references: Theriogenology. 2006 Oct;66(6-7):1655-8
references: 16466782
references: Can Vet J. 2009 Sep;50(9):937-42
references: 19949553
references: J Hered. 1995 Sep-Oct;86(5):369-74
references: 7560873
references: Sex Dev. 2009;3(6):326-8
references: 20051676
references: Teratology. 1985 Aug;32(1):51-6
references: 2863879
references: Vet Rec. 2009 Mar 14;164(11):331-3
references: 19287029
references: Sex Dev. 2012;6(1-3):128-34
references: 21893969
references: Chromosome Res. 2002;10(7):571-7
references: 12498346
references: J Androl. 2009 Jan-Feb;30(1):46-56
references: 18723470
references: Mol Reprod Dev. 2003 Aug;65(4):373-81
references: 12840810
references: J Biol Chem. 2001 Jul 27;276(30):27864-72
references: 11323423