In mammals, the regression of the müllerian ducts is regulated by the action of the AMH hormone which is produced by testes during embryonic development. The action of this hormone is mediated by the only known receptor AMHR2. Mutations occurring in the AHM hormone and/or in the AMHR2 receptor gene cause the lack of regression of müllerian ducts, which may therefore persist even in male embryos carrying a XY chromosomal arrangement. This is known as the persistent müllerian duct syndrome (PMDS). A female German Shepherd dog was referred to the veterinary clinic because of urinary incontinence. She also showed an anatomical structure that protruded from and enlarged the vulvar labia. From the morphological appearance, one gonad resembled an ovary and the other a testicle. The histological examination instead showed that the gonads were both testes with an underdeveloped parenchyma and without signs of spermatogenetic activity. No alterations were found with regard to the uterus which showed a correctly developed body, cervix, and horns. Genetic analysis, performed on DNA extracted from blood, showed (i) the presence of both X and Y chromosomes, (ii) the absence of chromosome XX/XY chimerism, (iii) a normal SRY gene coding sequence, (iv) a normal AMHR2 gene coding sequence, and (v) a normal AMH gene coding sequence. In this study, we report and characterize a new case of PMDS in a dog excluding that the only mutation hitherto found in the AMHR2 gene is responsible for the observed phenotype.
|Titolo:||Persistent Müllerian Duct Syndrome in a German Shepherd Dog|
|Parole Chiave:||AMH; AMHR2; German Shephard dog; Sequence analysis|
|Settore Scientifico Disciplinare:||Settore AGR/17 - Zootecnica Generale e Miglioramento Genetico|
|Data di pubblicazione:||dic-2018|
|Data ahead of print / Data di stampa:||8-ago-2018|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1159/000492037|
|Appare nelle tipologie:||01 - Articolo su periodico|