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

Categories: Reproductive system phene

Links to relevant human diseases in MONDO:

• MONDO:0017576: 46,XX disorder of sex development

Mendelian trait/disorder: unknown

Disease-related: yes

Cross-species summary: This phene includes information about XX differences of sexual development (XX DSD) in animals with an XX karyotype for which the causal variant has so far not been identified. This phene has been renamed from 'XX testicular DSD (Disorder of Sexual Development)' [29/09/2023] and was previously known as Sex reversal: XX male or SRY-negative XX sex reversal.

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"