Open AccessSry‐Negative XX Sex Reversal in a Family of Norwegian Elkhounds
Author(s) -
Melniczek John R.,
Dambach Donna,
Prociuk Ulana,
Jezyk Peter F.,
Henthorn Paula S.,
Patterson Donald F.,
Giger Urs
Publication year - 1999
Publication title -
journal of veterinary internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.356
H-Index - 103
eISSN - 1939-1676
pISSN - 0891-6640
DOI - 10.1111/j.1939-1676.1999.tb02211.x
Subject(s) - testis determining factor , karyotype , medicine , disorders of sex development , gynecology , male pseudohermaphroditism , y chromosome , genetics , anatomy , pathology , biology , gene , chromosome
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.