Partial urorectal septum malformation sequence in a kitten with disorder of sexual development.
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.
Veterinary Teaching Hospital CHUVAC, University of Toulouse, INP-ENVT, Toulouse, France Clinical Research Unit, University of Toulouse, INP-ENVT, Toulouse, France b.reynolds@envt.fr.
Brice S
BS
Reynolds
Veterinary Teaching Hospital CHUVAC, University of Toulouse, INP-ENVT, Toulouse, France.
Amélie
A
Pain
Veterinary Teaching Hospital CHUVAC, University of Toulouse, INP-ENVT, Toulouse, France Clinical Research Unit, University of Toulouse, INP-ENVT, Toulouse, France.
Patricia
P
Meynaud-Collard
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
Joanna
J
Nowacka-Woszuk
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
Izabela
I
Szczerbal
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
Marek
M
Switonski
Veterinary Teaching Hospital CHUVAC, University of Toulouse, INP-ENVT, Toulouse, France.
Sylvie
S
Chastant-Maillard
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000662:veterinary; D000818:Animals; D000831:Animals, Newborn; D001006:Anus, Imperforate / Q000175:diagnosis / Q000662:veterinary*; D002371:Cat Diseases / Q000175:diagnosis* / Q000473:pathology; D002415:Cats; D003937:Diagnosis, Differential; D008297:Male; D012003:Rectal Fistula / Q000175:diagnosis / Q000662:veterinary; D014564:Urogenital Abnormalities / Q000175:diagnosis / Q000662:veterinary