Sertoli Cell Tumour and Uterine Leiomyoma in Miniature Schnauzer Dogs with Persistent Müllerian Duct Syndrome Caused by Mutation in the AMHR2 Gene

Journal of Comparative Pathology
S DzimiraM Switonski

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.

Citations

May 6, 2019·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·Paulina KrzemińskaMarek Switonski
Jul 3, 2020·Frontiers in Veterinary Science·Massimo VignoliGiuseppe Marruchella
Apr 4, 2021·Animals : an Open Access Journal From MDPI·Izabela Szczerbal, Marek Switonski
May 26, 2021·Animal Reproduction Science·Izabela SzczerbalMarek Switonski

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