Sertoli Cell Tumour and Uterine Leiomyoma in Miniature Schnauzer Dogs with Persistent Müllerian Duct Syndrome Caused by Mutation in the AMHR2 Gene.
J Comp Pathol
; 161: 20-24, 2018 May.
Article
en En
| MEDLINE
| ID: mdl-30173854
ABSTRACT
Disorders of sex development (DSD) are a serious health problem in dogs. Different types of DSD have been described, including persistent Müllerian duct syndrome (PMDS), for which the molecular background has been identified in miniature schnauzers. Human patients with PMDS are at increased risk for cancers of the gonads (predominantly) or the Müllerian duct structures (rarely). This report describes two miniature schnauzer dogs with PMDS caused by a known nonsense mutation in the AMHR2 gene, with concurrent development of genital neoplasia. The first case (78,XY and SRY-positive) had unilateral cryptorchidism and a Sertoli cell tumour in the abdominal testicle. The second case (mosaic karyotype 77,XY,rob/78,XY and SRY-positive) had both gonads descended in the scrotum and developed an abdominal mass derived from the uterine wall, which showed histological features typical of leiomyoma.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Receptores de Factores de Crecimiento Transformadores beta
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Receptores de Péptidos
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Enfermedades de los Perros
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Trastorno del Desarrollo Sexual 46,XY
Tipo de estudio:
Prognostic_studies
Límite:
Animals
Idioma:
En
Revista:
J Comp Pathol
Año:
2018
Tipo del documento:
Article
País de afiliación:
Polonia