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In this study, we present for the first time, an analysis of six genes of the testosterone pathway, encoding enzymes (<jats:italic><jats:styled-content style=\"fixed-case\">CYP<\/jats:styled-content>17A1, <jats:styled-content style=\"fixed-case\">HSD<\/jats:styled-content>3B2, <jats:styled-content style=\"fixed-case\">HSD<\/jats:styled-content>17B3, <jats:styled-content style=\"fixed-case\">SRD<\/jats:styled-content>5A2<\/jats:italic>) and transcription factors (<jats:italic><jats:styled-content style=\"fixed-case\">NR<\/jats:styled-content>5A1<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content><\/jats:italic>). The entire coding sequence and flanking regions of the introns, 5\u2032\u2010<jats:styled-content style=\"fixed-case\">UTR<\/jats:styled-content> and 3\u2032\u2010<jats:styled-content style=\"fixed-case\">UTR<\/jats:styled-content> were analyzed in five <jats:styled-content style=\"fixed-case\">DSD<\/jats:styled-content> dogs (78,<jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content>,<jats:italic> <jats:styled-content style=\"fixed-case\">SRY<\/jats:styled-content><\/jats:italic>\u2010positive) with ambiguous external genitalia and in 15 control dogs. A homozygous deletion of 2\u00a0bp in exon 2 of <jats:italic><jats:styled-content style=\"fixed-case\">HSD<\/jats:styled-content>17B3<\/jats:italic> (<jats:italic>hydroxysteroid 17\u2010beta dehydrogenase 3<\/jats:italic>) was found in a Dachshund dog with enlarged clitoris, vulva and abdominal gonads and decreased serum testosterone level. <jats:italic>In silico<\/jats:italic> analysis revealed that this deleterious variant causes truncation of the encoded polypeptide (from 306 to 65 amino acids) and deprivation of the active site of the encoded enzyme. Genotyping of 23 control Dachshund dogs showed a normal homozygous genotype. Thus, we assumed that the 2\u2010bp deletion is the causative variant. Moreover, 24 <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s (four in <jats:italic><jats:styled-content style=\"fixed-case\">CYP<\/jats:styled-content>17A1<\/jats:italic>, three in <jats:italic><jats:styled-content style=\"fixed-case\">HSD<\/jats:styled-content>3B2<\/jats:italic>, six in <jats:italic><jats:styled-content style=\"fixed-case\">HSD<\/jats:styled-content>17B3<\/jats:italic>, five in <jats:italic><jats:styled-content style=\"fixed-case\">SRD<\/jats:styled-content>5A2<\/jats:italic>, one in <jats:italic><jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content><\/jats:italic> and five in <jats:italic><jats:styled-content style=\"fixed-case\">NR<\/jats:styled-content>5A1<\/jats:italic>), two intronic indels (one in <jats:italic><jats:styled-content style=\"fixed-case\">HSD<\/jats:styled-content>3B2<\/jats:italic> and one in <jats:italic><jats:styled-content style=\"fixed-case\">SRD<\/jats:styled-content>5A2<\/jats:italic>) and two microsatellite polymorphisms in exon 1 of <jats:italic><jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content><\/jats:italic> were found. Six <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s appeared to be novel. No association with <jats:styled-content style=\"fixed-case\">DSD<\/jats:styled-content> phenotype was observed. Identification of the first case of <jats:styled-content style=\"fixed-case\">DSD<\/jats:styled-content> in domestic animals caused by a deleterious variant of a gene involved in testosterone synthesis showed that these genes are important candidates in such studies.<\/jats:p>","DOI":"10.1111\/age.12850","type":"journal-article","created":{"date-parts":[[2019,9,2]],"date-time":"2019-09-02T13:19:50Z","timestamp":1567430390000},"page":"705-711","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Analysis of testosterone pathway genes in dogs (78,<scp>XY<\/scp>;<i><scp>SRY<\/scp><\/i>\u2010positive) with ambiguous external genitalia revealed a homozygous animal for 2\u2010bp deletion causing premature stop codon in <i><scp>HSD<\/scp>17B3<\/i>"],"prefix":"10.1111","volume":"50","author":[{"given":"P.","family":"Krzeminska","sequence":"first","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Wolynska 33 60-637 Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Nizanski","sequence":"additional","affiliation":[{"name":"Department of Reproduction and Clinic of Farm Animals Wroclaw University of Environmental and Life Sciences Plac Grunwaldzki 49 50-366 Wroclaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Nowacka\u2010Woszuk","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Wolynska 33 60-637 Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2539-9508","authenticated-orcid":false,"given":"M.","family":"Switonski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Wolynska 33 60-637 Poznan 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