MALE PSEUDOHERMAPHRODITISM - DIAGNOSIS IN CELL-CULTURE

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  • 1 January 1977
    • journal article
    • research article
    • Vol. 116  (11) , 1274-1275
Abstract
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 4 patients (from 2 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 incomplete male pseudohermaphroditism before puberty.