Abstract
In infancy, the proposita was diagnosed as a case of testicular feminisation. At the age of 14 she suffered from severe symptoms of virilising puberty with poor breast development. Plasma steroid analyses revealed a tenfold elevated androstenedione concentration (Δ4 = 1562 ng/dl).Testosterone (T = 266 ng/dl) was in the pubertal range.Thus the Δ4/T-ratio was far above normal. The estrone/estradiol ratio was also elevated (E1/E2 = 10.2/2.2 ng/dl ). Δ4,T,E1,and E2 could not be suppressed by dexamethasone, but reacted promptly to fluoxymesterone (Δ4 =781 ng/dl).HCG caused a further increase of the Δ4/T-ratio(2220/246 ng/dl); ACTH did not alter the Δ4-concentration. These findings together with similar investigations after gonadectomy suggest that the failure to convert Δ4 to T and E1 to E2 is restricted to the testes. In-vitro incubations of testicular tissue showed almost no 17-ketosteroid reductase activity.
This form of male pseudohermaphroditism can easily be detected already in infancy, if steroid analyses and stimulation tests are performed, and patients should be submitted to early orchidectomy in order to avoid virilisation in puberty.
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Schnakenburg, K., Bidlingmaier, F., Knorr, D. et al. 17-Ketosteroid Reductase Deficiency - Plasma Steroids and Incubation Studies with Testicular Tissue. Pediatr Res 13, 1194 (1979). https://doi.org/10.1203/00006450-197910000-00083
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DOI: https://doi.org/10.1203/00006450-197910000-00083
