OMIA 000901-9685 : XX testicular DSD (Disorder of Sexual Development) in Felis catus

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"

Reference


2017 De Lorenzi, L., Banco, B., Previderè, C., Bonacina, S., Romagnoli, S., Grieco, V., Parma, P. :
Testicular XX (SRY-Negative) Disorder of Sex Development in Cat. Sex Dev 11:210-216, 2017. Pubmed reference: 28848109. DOI: 10.1159/000479175.

Edit History


  • Created by Frank Nicholas on 13 Sep 2017
  • Changed by Frank Nicholas on 13 Sep 2017