{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T20:37:25Z","timestamp":1778704645178,"version":"3.51.4"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,8,11]],"date-time":"2018-08-11T00:00:00Z","timestamp":1533945600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Statutory fund of the Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poland","award":["508.534.00.0"],"award-info":[{"award-number":["508.534.00.0"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Reprod Domestic Animals"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:title>Contents<\/jats:title><jats:p>The genetic background of disorders of sex development (DSDs) in cats is poorly understood, due to a relatively low number of such studies in this species. Here we present three new DSD cases with different complements of sex chromosomes. The first, an Oriental Shorthair cat with a rudimentary penis, abdominal atrophic testicles and lack of uterus appeared to be a freemartin, since leucocyte chimerism XX\/XY and a lack of Y\u2010linked genes (<jats:italic>SRY<\/jats:italic>and<jats:italic>ZFY<\/jats:italic>) were observed in DNA isolated from hair follicles. XXY trisomy was identified in the second case, a tortoiseshell Devon Rex male cat with atrophic scrotal testicles and a normal penis. Finally, a European Shorthair cat with atrophic testicles in a bifid scrotum, rudimentary penis and a lack of uterus had XY complement, including Y chromosome of normal size and morphology. Also presence of eight Y\u2010linked genes, detected by PCR, was confirmed. Due to the low testosterone level in this last patient, we searched for a causative mutation in two candidate genes (<jats:italic>HSD3B2<\/jats:italic>and<jats:italic>HSD17B3<\/jats:italic>) involved in the metabolism of this steroid hormone. Altogether, five polymorphic sites in<jats:italic>HSD3B2<\/jats:italic>and two in<jats:italic>HSD17B3<\/jats:italic>were found, but none of them showed associations with DSD phenotype. We thus excluded a possibility that the causative mutation is present in these genes. In conclusion, we confirmed that analysis of the sex chromosome complement is a crucial step in diagnosis of DSDs. However, extensive molecular studies of the genes involved in sex development are needed to elucidate the causes of DSDs in cats with normal complements of sex chromosomes.<\/jats:p>","DOI":"10.1111\/rda.13263","type":"journal-article","created":{"date-parts":[[2018,8,12]],"date-time":"2018-08-12T04:29:24Z","timestamp":1534048164000},"page":"1317-1322","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Disorders of sex development in cats with different complements of sex chromosomes"],"prefix":"10.1111","volume":"53","author":[{"given":"Izabela","family":"Szczerbal","sequence":"first","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulina","family":"Krzeminska","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislaw","family":"Dzimira","sequence":"additional","affiliation":[{"name":"Department of Pathology Wroclaw University of Environmental and Life Sciences Wroclaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tuire Maria","family":"Tamminen","sequence":"additional","affiliation":[{"name":"Department of Production Animal Medicine University of Helsinki Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seppo","family":"Saari","sequence":"additional","affiliation":[{"name":"Veterinary Histopathology Service Patovet Ay Kivihaantie 7 Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wojciech","family":"Nizanski","sequence":"additional","affiliation":[{"name":"Department of Reproduction and Clinic of Farm Animals Wroclaw University of Environmental and Life Sciences Wroclaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maciej","family":"Gogulski","sequence":"additional","affiliation":[{"name":"University Centre for Veterinary Medicine Poznan University of Life Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Nowacka\u2010Woszuk","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2539-9508","authenticated-orcid":false,"given":"Marek","family":"Switonski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,8,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12912"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000443233"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000444991"},{"key":"e_1_2_9_5_1","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.2460\/ajvr.1975.36.09.1275","article-title":"An animal model for the XXY Klinefelter's syndrome in man: Tortoiseshell and calico male cats","volume":"36","author":"Centerwall W. 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