Abstract
The inheritance and pathogenesis of human testicular feminization (TF) are unknown. The possibilities of X-linked recessive inheritance and primary target organ refractoriness to testosterone (T) could be studied optimally in serially subcultured cell strains. Fibroblasts derived from sex and non-sex skin of males, females and patients with TF were incubated with T-4-14C. T and its metabolites in the culture medium were separated by paper chromatography and identified by reverse isotopic dilution. The rate of T metabolism was much greater in sex than in non-sex strains. For both newborn foreskin and adult labial strains, androstenedione was the primary metabolite to T, however they differed in their rate of production of 5α-androstanedione and andosterone. In a strain derived from the foreskin of a 7-year old, 5α-androstanedione, rather than andrastenedione, appeared to be the major early metabolite. 5α-dihydro-testosterone (DHT) was a major metabolite in none of the strains. Sex and non-sex strains from two patients with TF were indistinguishable: Both had low rates of T metabolism. We conclude that: 1) in situ differences in T metabolism between normal sex and non-sex skin persist in their serially subcultured fibroblasts; 2) an expression of the TF gene is detectable in sex skin fibroblasts without reference to the rate of DHT formation; and 3) Lyonization of cloned heterozygous fibroblasts may prove that human TF is X-linked.
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Pinsky, L., Mulay, S., Weksberg, R. et al. Testicular feminization: Expression in sex skin fibroblast culture. Pediatr Res 5, 422 (1971). https://doi.org/10.1203/00006450-197108000-00213
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DOI: https://doi.org/10.1203/00006450-197108000-00213