Abstract
The endocrine and biochemical characteristics of four related 46,XY pseudohermaphrodite patients with the Reifenstein Syndrome are presented. All of them (6 and 9 years old, first generation, and 9 and 12 months old, second generation) exhibited ambiguity of external genitalia and a family pedigree characteristic of an X-linked pattern of inheritance. Serum basal levels of LH, FSH, testosterone (T), androstenedione and 5α-dihydrotestosterone (DHT) were within normal limits. Administration of hCG induced a normal response in terms of serum T in three of the patients, with a concomitant increase in serum DHT. However, an abnormally elevated T : DHT ratio was found in two of these subjects on the day of maximal T response (T : DHT ratio, 24 and 27; normal range, 4–21). Genital skin-derived fibroblasts from all patients were studied for [ 3H]DHT uptake in a whole-cell monolayer assay. Three of the mutant strains exhibited values of [ 3H]DHT uptake at 37 ° C within the lower limits of normality (39.4–47.05 fmol/mg protein/h; normal strains, 36–101 fmol/mg protein/h), whereas fibroblasts from the remaining patient presented a slightly decreased uptake (31.66 fmol/mg protein); when studied at 42 ° C, all mutant strains behaved as the normal controls. The existence of a specific 4.6 S cytosol androgen receptor was clearly seen in the two mutant strains when analysed by sucrose gradient centrifugation. Nevertheless, in one of the mutant strains, a significantly low maximal nuclear [ 3H]DHT uptake was detected (173.6 fmol/mg DNA; control strain, 301.6 fmol/mg DNA). The overall data were interpreted as demonstrating the existence of an impaired uptake of the androgenreceptor complex at the nuclear levels as the cause of the incomplete phenotypic expression of androgen action in this family. In this setting, the presence of low peripheral 5α-reductase activity may be considered as a secondary manifestation of the androgen insensitivity.
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