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- W1999503791 abstract "Two male first cousins (XY) presented with ambiguous genitalia. A maternal »aunt« is an XY individual with testicles (removed), rudimentary uterus and one Fallopian tube. The infants had no salt-wasting. Steroid studies were carried out at age 1.8 and 2.4 (subject A) and 2.2 (B) years. Both children excreted low quantities of testosterone. Urinary pregnanediol, pregnanetriol and Cortisol metabolites (THF, THE) were normal, THS and THB detectable. No dehydroepiandrosterone was present. Pregnanetriol one, usually found only in 21-hydroxylase deficiency, was present in small amount. 1, 3 and 5 days after HCG (5000 U/m2), testosterone remained unchanged and dehydroepiandrosterone undetectable. Pregnanetriol also did not change, but pregnanetriolone increased. More detailed studies were carried out in A: the steroid converting capacity of testicular tissue (surgical biopsy) was studied with a double substrate system: in separate flasks, tissue was incubated with 3H-pregnenolone/14C-progesterone, with 3H-17α-hy-droxypregnenoIone/14C-17α-hydroxyprogesterone and with 3H-dehydroepiandrosterone/ 14C-androstenedione. Androstenedione and dehydroepiandrosterone were converted freely to testosterone, excluding 17-reductase deficiency. Testosterone was not formed from any of the other substrates. Both, pregnenolone/progesterone and the respective 17α-hydroxylated compounds, the former less than the latter, yielded compound S and its 20α- and 20β-reduced products." @default.
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- W1999503791 date "1971-12-01" @default.
- W1999503791 modified "2023-09-26" @default.
- W1999503791 title "TESTICULAR 17,20-DESMOLASE DEFICIENCY CAUSING MALE PSEUDOHERMAPHRODITISM" @default.
- W1999503791 doi "https://doi.org/10.1530/acta.0.067s065" @default.
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