Characterisation of eight cattle with Swyer syndrome by whole‐genome sequencing

Abstract

Sex reversal can occur when a discrepancy exists between the karyotype-dictated sex of an individual and its external phenotype (Parma et al., 2016). Gonadal dysgenesis is used to describe any congenital developmental disorder of the reproductive system in either males or females. XY gonadal dysgenesis, which is more commonly known as Swyer syndrome, was first coined by Swyer in 1955(Swyer, 1955 and is a type of hypogonadism. In bovines, an individual with Swyer syndrome has a 60,XY karyotype and generally, although not always (Sharma

Swyer Syndrome: A Case Report

“…In our case, the chromosomal study revealed a male karyotype with sex chromosome XY, which is consistent with a diagnosis of Swyer syndrome. The absence of normal testicular tissue in our patient suggests that the mutation occurred in a gene responsible for testicular development or maintenance, such as SRY or SOX9 ( 3 4 ).…”

Bovine congenital defects recorded by veterinary practitioners

“…Congenital defects may be defined as abnormalities of structure and function present at birth (Mee, 2021; WHO, 2009) but which may not be recognized in some cases until animals are older (Berry et al., 2022). They are reported to occur at a low frequency (<1%) in cattle (Bähr & Distl, 2005; Leipold & Dennis, 1993) but are under‐diagnosed due to submission and reporting biases in (passive) surveillance programmes.…”