OMIA 001601-9685 : XY DSD (Disorder of Sexual Development), SRY-positive in Felis catus

In other species: dog , horse

Category: Reproductive system phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Renamed from 'Sex reversal: XY female, SRY-positive' [22/10/2021]

Species-specific description: Stachowiak et al. (2022) "performed comprehensive cytogenetic, molecular, and histological studies of 17 cats with abnormal external genitalia, unusual behavior, or tricolor coats (atypical in males). The DSD phenotype of three cats was associated with sex chromosome abnormalities: X/Y translocation (38,XXSRY+), 37,X/38,XY mosaicism, and XX/XY leukocyte chimerism. The remaining 14 affected cats were classified as XY DSD (SRY-positive)."

Markers: Stachowiak et al. (2022): "In this group and 38 normal males, we analyzed a priori selected candidate genes (SRY, TAC3, CYP11B1 and LHCGR). ... SRY gene copy number was determined, and three variants were observed: 6, 5 (modal), and 4 copies in a single DSD case. The known variants in TAC3 and CYP11B1, responsible for testicular hypoplasia, persistent primary dentition or congenital adrenal hyperplasia, were not found in the study group. Nine novel polymorphisms were identified in the LHCGR gene, one of which, a potentially regulatory indel variant in 5'UTR, was significantly associated (p = 0.0467) with XY DSD."

Reference


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2022 Stachowiak, M., Szczerbal, I., Nowacka-Woszuk, J., Nowak, T., Sowinska, N., Lukomska, A., Gogulski, M., Badura, M., Sklorz-Mencel, K., Jagodka, D., Nizanski, W., Dzimira, S., Switonski, M. :
Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats. Sci Rep 12:17807, 2022. Pubmed reference: 36280698. DOI: 10.1038/s41598-022-21718-y.

Edit History


  • Created by Imke Tammen2 on 10 Nov 2022
  • Changed by Imke Tammen2 on 10 Nov 2022