In other species: common carp , Japanese medaka , dog , horse , pig , llama , goat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 278850

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Previously known as Sex reversal: XX male or SRY-negative XX sex reversal. The present name (XX testicular DSD) corresponds to the recommendations on nomenclature for disorders of sexual development (DSD) proposed by Lee et al. (Pediatrics 2006;118;e488; DOI: 10.1542/peds.2006-0738).

History: De Lorenzi et al. (2017) reported "the first case of an XX (SRY-negative) DSD cat".

Molecular basis: De Lorenzi et al. (2017): "sequencing of the RSPO1 gene revealed no mutation, and FISH analysis of the SOX9 locus did not reveal any large abnormalities."

Clinical features: De Lorenzi et al. (2017): "The cat possesses a tortoiseshell coat associated with male-like external genitalia, including normal scrotum with 2 palpably normal testicles. Histological analysis confirmed the presence of the testes, and cytogenetic and genetic analyses showed a female karyotype associated with the absence of the SRY gene"