TESTICULAR FEMINIZATION

Publisher Website
Google Scholar
Abstract
Genetic and hormonal studies were carried out on a family in which 3 sibs presented the complete syndrome of testicular feminization (T. F.). In addition to the 7 features, by which the general picture of this condition was described by Morris (1953), three other now well known signs are added: 1) the high malignancy risk, 2) the hereditary nature and 3) the XY karyotype. The patients are described according to this 10 point-scheme and it is suggested that male pseudo-hermaphrodites in general should be so described. The 3 sibs of this family all have the karyotype 46/XY and now 15 cases of T. F. of which some were relatives with the karyotype XY are recorded in the literature. As however 2 cases (13%) were found with other karyotypes, more cases must be investigated before a definite conclusion can be drawn about the association of this karyotype with the syndrome. Linkage studies were carried out in collaboration with Dr. Ruth Sanger and Dr. R. R. Race. No close linkage was found between the gene for T. F. and the X-linked genes for the Xg blood groups. Furthermore no close linkage was found between the gene for T. F. and the autosomal genes for the MNSs, Lutheran and Duffy blood group systems for which the family segregated informatively.