Article
Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Apr 2002
Kempe A, Engels H, Schubert R, Meindl A, van der Ven K, Plath H, Rhiem K, Schwanitz G, Schmutzler R K
Abstract excerpt
An asymptomatic woman (age 38 years) with a family history of ovarian malignancies was referred for presymptomatic genetic testing of mutations in the BRCA genes. A familial Swyer syndrome with the occurrence of dysgerminomas is the most likely diagnosis. However, in our case, all known causes of this heterogeneous disorder have been excluded pointing to the existence of another yet unknown genetic locus. The...
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