title: Clinical, cytogenetic and molecular evaluation in a dog with bilateral cryptorchidism and hypospadias.
abstract: The aim of this study was to estimate prognostic factors in a Dalmatian dog with bilateral cryptorchidism and hypospadias. Cytogenetic and molecular analyses revealed a normal karyotype (2n = 78,XY) and the presence of SRY, INSL3 and RXFP2 genes with a normal DNA sequence for SRY and RXFP2, while the INSL3 sequence differed slightly from the normal one due to a heterozygous nucleotide change involving amino acid 22 of the INSL3 dog precursor protein. Levels of plasmatic testosterone were only 0.01 ng/ml, while FSH and LH serum levels were not detectable. After the human chorionic gonadotropin (hCG) test, the serum testosterone level was 0.01 ng/ml. Therefore, the phenotypic aetiology of this subject can not be well-defined because cryptorchidism and hypospadias were frequent clinical features with high genetic heterogeneity.
authors.affiliation: Physiopathology and Reproduction, Faculty of Veterinary Medicine, University 'Federico II', Naples, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Cassata
authors.forename: A
authors.initials: A
authors.lastname: Iannuzzi
authors.forename: P
authors.initials: P
authors.lastname: Parma
authors.forename: L
authors.initials: L
authors.lastname: De Lorenzi
authors.forename: V
authors.initials: V
authors.lastname: Peretti
authors.forename: A
authors.initials: A
authors.lastname: Perucatti
authors.forename: L
authors.initials: L
authors.lastname: Iannuzzi
authors.forename: G P
authors.initials: GP
authors.lastname: Di Meo
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D001483:Base Sequence; D003456:Cryptorchidism / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D017931:DNA Primers / Q000235:genetics; D004283:Dog Diseases / Q000235:genetics* / Q000473:pathology; D004285:Dogs; D024282:Genes, sry; D007021:Hypospadias / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D007328:Insulin / Q000235:genetics; D007621:Karyotyping / Q000662:veterinary; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation; D011379:Prognosis; D011506:Proteins / Q000235:genetics; D043562:Receptors, G-Protein-Coupled / Q000235:genetics; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity
chemical_list: D017931:DNA Primers; D007328:Insulin; C084797:Leydig insulin-like protein; D011506:Proteins; D043562:Receptors, G-Protein-Coupled