RT Journal Article
SR Electronic
T1 Male pseudohermaphroditism: diagnosis in cell culture
JF Canadian Medical Association Journal
JO CMAJ
FD Canadian Medical Association
SP 1274
OP 1275
VO 116
IS 11
A1 L. Pinsky
A1 M. Kaufman
A1 B. Lambert
A1 G. Faucher
A1 R. Rosenfeld
YR 1977
UL http://www.cmaj.ca/content/116/11/1274.abstract
AB Testicular feminization is a classic form of complete male pseudohermaphroditism. The individuals have a normal XY karyotype but unambiguously female external genitalia. They have congenital complete insensitivity to androgen due to an X-linked mutation. In four patients (from tow families with several affected members) with the typical phenotype of testicular feminization, a severe deficit of specific androgen-binding activity was detected in cultured fibroblasts from labium majus skin. Measurement of this activity in genital skin fibroblasts improves the differential diagnosis in patients with complete or imcomplete male pseudohermaphroditism before puberty.