Sry-negative XX sex reversal in a family of Norwegian Elkhounds

Two related female Norwegian Elkhounds were evaluated at 6 and 8 months of age for enlarged clitori. Both had a 78 XX karyotype. Histology of their internal reproductive tracts demonstrated 1 to be an XX true hermaphrodite with bilateral ovotestes and the other to be an XX male with bilateral asperm...

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Bibliographic Details
Published in:Journal of veterinary internal medicine 1999-11, Vol.13 (6), p.564-569
Main Authors: Melniczek, J.R, Dambach, D, Prociuk, U, Jezyk, P.F, Henthorn, P.S, Patterson, D.F, Giger, U
Format: Article
Language:English
Subjects:
Animals
autosomes
Canine
case studies
Disorders of Sex Development - genetics
Disorders of Sex Development - veterinary
DNA - analysis
Dog Diseases - genetics
Dogs
Female
females
Gene Deletion
Genitalia, Male - abnormalities
gonads
histology
Male
mutation
Pedigree
Polymerase Chain Reaction
Sex Chromosome Aberrations - veterinary
sex control
sex reversal
Sexual development
X Chromosome
XX male
XX true hermaphrodite
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Summary:Two related female Norwegian Elkhounds were evaluated at 6 and 8 months of age for enlarged clitori. Both had a 78 XX karyotype. Histology of their internal reproductive tracts demonstrated 1 to be an XX true hermaphrodite with bilateral ovotestes and the other to be an XX male with bilateral aspermatogenic testes. Polymerase chain reaction‐based tests of genomic DNA showed that both dogs lacked Sry, the testis‐determining gene. Pedigree analysis was consistent with an autosomal recessive mode of inheritance, as has been reported in the American Cocker Spaniel and the German Shorthaired Pointer. This is the 1st reported case of familial Sry‐negative XX sex reversal in the Norwegian Elkhound. A summary of 34 previously unreported cases of dogs with masculinized external genitalia and a normal 78 XX karyotype seen from 1980 to 1997 is given.
ISSN:0891-6640
1939-1676
DOI:10.1111/j.1939-1676.1999.tb02211.x