Abstract

This study was designed to find out whether human amniotic fluid cells have steroid 5 α-reductase activity and specific intracellular androgen receptors, and whether they could be used for antenatal diagnosis of male pseudohermaphroditism due to androgen resistance. "Fibroblast-like" cells cultures were raised from 12 amniotic fluids collected at mid-gestation. Specific receptor bound-DHT in the cell lysate was measured by a charcoal adsorption method. The binding specificity of the DHT-receptor was investigated. Physico-chemical properties of the binding component were studied by Sephadex G25 column chromatography, by density gradient ultra-centrifugation and by polyacrylamide gel electrophoresis. The dissociation constant of the 3H-DHT receptor complex varied between .38 and 2.10 × 10-9M and the number of binding sites ranged from 110 to 644 fmoles.mg DNA. Moreover, amniotic fluid fibroblasts were capable of metabolizing androgens : when the cell were incubated with testosterone, DHT and Androstane-diols were measured by gas liquid chromatography. 5 α-reductase activity and high-affinity specific DHT binding protein are expressed in amniocentesis cells.From these data, it is thus possible to identify, prior to birth, individuals with 5 α-reductase deficiency or with no detectable androgen receptor.

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