Partial urorectal septum malformation sequence in a kitten with disorder of sexual development
| Autor: | Amélie Pain, Patricia Meynaud-Collard, Sylvie Chastant-Maillard, Joanna Nowacka-Woszuk, Izabela Szczerbal, Brice S Reynolds, Marek Switonski |
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| Přispěvatelé: | Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Poznan University of Life Sciences, Interactions hôtes-agents pathogènes [Toulouse] (IHAP), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP) |
| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: |
Male
Biology Cat Diseases Rectourethral fistula Anus Imperforate Diagnosis Differential Urorectal septum Dysgenesis medicine Animals Rectal Fistula Abnormalities Multiple Small Animals Glans [SDV.BDD]Life Sciences [q-bio]/Development Biology Urethrostomy [SDV.BA]Life Sciences [q-bio]/Animal biology [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology Anatomy medicine.disease medicine.anatomical_structure Animals Newborn Hypospadias Urogenital Abnormalities Cats Imperforate anus Penis |
| Zdroj: | Journal of Feline Medicine and Surgery Journal of Feline Medicine and Surgery, SAGE Publications, 2014, 16 (12), pp.1016-1019. ⟨10.1177/1098612X14529958⟩ |
| ISSN: | 1098-612X |
| DOI: | 10.1177/1098612X14529958⟩ |
| Popis: | International audience; A 2-month-old kitten exhibited simultaneously an imperforate anus, hypospadias, rectourethral fistula and genital dysgenesis (penis restricted to the glans, absence of prepuce and bifid scrotum). Surgical correction consisted of separation of the urinary and digestive tracts, perineal urethrostomy and connection of the rectum to the newly made anal opening. Pathological examination of the testes, conventionally removed at 9 months of age, showed no mature spermatozoa and underdevelopment of germ and Leydig cells. In humans, the absence of an anal opening in association with abnormal sexual development defines the urorectal septum malformation sequence. Here, we describe the first case of this syndrome in a kitten with a normal male karyotype (38,XY) and a normal coding sequence for the SRY gene. Both the rectourethral fistula and observed genital abnormalities might have been induced by a disturbance in the hedgehog signalling pathway. However, although four polymorphic sites were identified by DHH gene sequencing, none cosegregated with the malformation. |
| Databáze: | OpenAIRE |
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