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 (trait)
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"
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2020 | Szczerbal, I., Switonski, M. : | |
Genetic disorders of sex development in cats: An update. Anim Reprod Sci 216:106353, 2020. Pubmed reference: 32414464. DOI: 10.1016/j.anireprosci.2020.106353. | ||
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