title: Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive).
abstract: The molecular background of disorders of sex development (DSD) in cats is poorly recognized. In this study we present cytogenetic, molecular and histological analyses of four cats subjected for the analysis due to ambiguous external genitalia. Three cases, with rudimentary penises and an abnormal position of the urethral orifice, represented different types of hypospadias. The fourth case had a normal penis, a blind vulva and spermatogenetically active testes. Histological studies showed structures typical of testes, but spermatogenic activity was observed in two cats only. All the cats had a normal male chromosome complement (38,XY) and the Y-chromosome linked genes (SRY and ZFY) were also detected. Fluorescent in situ hybridization (FISH), with the use of the feline BAC probe harboring the SRY gene, excluded the possibility of chromosome translocation of the Y chromosome fragment carrying the SRY gene onto another chromosome. Sequencing of four candidate genes (SRY--sex determining region Y; AR--androgen receptor; SRD5A2--steroid-5-alfa reductase 2 and MAMLD1--mastermind-like domain containing (1) revealed one SNP in the SRY gene, one common polymorphism in exon 1 of the AR gene (tandem repeat of a tri-nucleotide motif--CAG), six polymorphisms (5 SNPs and 1 indel) in the SRD5A2 gene and one SNP in the MAMLD1 gene. Molecular studies of the candidate genes showed no association with the identified polymorphisms, thus molecular background of the studied DSD phenotypes remains unknown.
authors.affiliation: Department of Genetics and Animal Breeding, Poznan University of Life Sciences, 60-637 Poznan, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Nowacka-Woszuk
authors.affiliation: Department of Genetics and Animal Breeding, Poznan University of Life Sciences, 60-637 Poznan, Poland.
authors.forename: Izabela
authors.initials: I
authors.lastname: Szczerbal
authors.affiliation: Department of Genetics and Animal Breeding, Poznan University of Life Sciences, 60-637 Poznan, Poland.
authors.forename: Sylwia
authors.initials: S
authors.lastname: Salamon
authors.affiliation: Department of Genetics and Animal Breeding, Poznan University of Life Sciences, 60-637 Poznan, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Kociucka
authors.affiliation: Department of Histology and Embryology, Institute of Zoology, Poznan University of Life Sciences, 60-637 Poznan, Poland.
authors.forename: Hanna
authors.initials: H
authors.lastname: Jackowiak
authors.affiliation: Department of Histology and Embryology, Institute of Zoology, Poznan University of Life Sciences, 60-637 Poznan, Poland.
authors.forename: Ewelina
authors.initials: E
authors.lastname: Prozorowska
authors.affiliation: Department of Biological Bases of Animal Production, University of Life Sciences in Lublin, Lublin, Poland.
authors.forename: Brygida
authors.initials: B
authors.lastname: Slaska
authors.affiliation: Department and Clinic of Animal Surgery, University of Life Sciences in Lublin, Lublin, Poland.
authors.forename: Dorota
authors.initials: D
authors.lastname: Rozanska
authors.affiliation: Department and Clinic of Animal Surgery, University of Life Sciences in Lublin, Lublin, Poland.
authors.forename: Maciej
authors.initials: M
authors.lastname: Orzelski
authors.affiliation: Department of Reproduction and Clinic of Farm Animals, Wroclaw University of Environmental and Life Sciences, Wroclaw, Poland.
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Ochota
authors.affiliation: Department of Pathology, Wroclaw University of Environmental and Life Sciences, Wroclaw, Poland.
authors.forename: Stanislaw
authors.initials: S
authors.lastname: Dzimira
authors.affiliation: Veterinary Practice, Siemianowice Slaskie, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Lipiec
authors.affiliation: Department of Reproduction and Clinic of Farm Animals, Wroclaw University of Environmental and Life Sciences, Wroclaw, Poland.
authors.forename: Wojciech
authors.initials: W
authors.lastname: Nizanski
authors.affiliation: Department of Genetics and Animal Breeding, Poznan University of Life Sciences, 60-637 Poznan, Poland. Electronic address: switonsk@up.poznan.pl.
authors.forename: Marek
authors.initials: M
authors.lastname: Switonski
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000235:genetics* / Q000473:pathology; D002415:Cats; D012734:Disorders of Sex Development / Q000235:genetics / Q000662:veterinary*; D024282:Genes, sry / Q000235:genetics; D007021:Hypospadias / Q000235:genetics / Q000473:pathology / Q000662:veterinary; D059785:Karyotype; D008297:Male; D013733:Testicular Diseases / Q000235:genetics / Q000473:pathology / Q000662:veterinary*
keywords: AR; Hypospadias; MAMLD1; SRD5A2; SRY; Testicular DSD