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Lack of causative mutation in the AMH and AMHR2 genes in a cat (38,XY) with persistent Mullerian duct syndrome (PMDS)
AbstractA 1‐year‐old European shorthair male cat with a normally developed penis was subjected to genetic, endocrinological and histological studies due to unilateral cryptorchidism. The blood testosterone level was typical for males, while the level of anti‐Mullerian hormone (AMH) was very low. Surgical removal of internal reproductive organs was followed by a histological study, which revealed inactive testicles with neoplastic changes and derivatives of Mullerian ducts. Cytogenetic analysis showed a normal XY sex chromosome complement and molecular analysis confirmed the presence of Y‐linked genes (SRY and ZFY). Although the level of AMH was low, two normal copies of the AMH gene were found using droplet digital PCR (ddPCR). Analysis of the coding sequences of two candidate genes (AMH and AMHR2) for persistent Mullerian duct syndrome (PMDS) in the affected cat and in control male cats (n = 24) was performed using the Sanger sequencing method. In the affected cat, homozygosity was found for three novel missense variants in Exon 1 (one SNP) and Exon 5 (two SNPs) of AMH, but the same homozygous genotypes were also observed in one and two control cats, respectively, whose sex development was not examined. Three known synonymous variants with homozygous status were found in AMHR2. We conclude that the DNA variants identified in AMH and AMHR2 are not responsible for PMDS in the affected cat.
Różnicowanie korowo-rdzeniowe – nieoczywisty objaw ultrasonograficzny w ocenie nerek psów i kotów
Criteria for evaluation of kidneys by B-mode ultrasound in dogs and cats: A current state of knowledge
Ultrasound is an important part of the diagnostic management of patients with suspected kidney disease. Although it does not provide a measurable functional assessment of the kidney, it does provide a detailed assessment of its structure, which may reflect its function. Knowledge of the use of ultrasonography in the diagnosis of renal disease is growing, and new publications seek to make this examination more informative in diagnosing acute and chronic diseases of this organ. This review discusses selected criteria for the evaluation of the kidney on grey-scale (B-mode) ultrasound and presents the current knowledge in this field.