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- W2061874509 abstract "The conversion of the C21 steroids, 17-OH-Pregenolone and 17-OH-Progesterone (17-OH-P) to the C19 steroids DHEA; androstendione is mediated by the enzyme 17-20 desmolase. It was recently suggested that this enzyme deficiency is part of multiple abnormalities of steroid biosynthetic microsomal, mixed function oxidases. We present a Jewish infant 46xy who was with micropallus at birth (1cm) with glandular hypospadias and normal testis. The child grew normally with normal blood pressure and no salt wasting Ultrasonography: mullerian duct derivatives absent. The child was raised as male. After treatment with HCG and testosterone (T) the penis size increased (4cm). Hormonal findings: basal levels of Cortisol (F), high basal levels of progesterone (P) and 17-OH-P, and low basal levels of DHEA and T. P and 17-OH-P responded excessively to ACTH, while DHEA, T, desoxycorticosterone and F failed to rise, thus suggesting partial deficiency in both 17-20 desmolase as well as 21-hydroxylase. Both parents as well as two brothers did not have any signs of adrenal biosynthetic defect. HLA-typing revealed one HLA identical brother, thus suggesting that the gene for these enzyme deficiencies is not mapped to chromosome 6." @default.
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- W2061874509 date "1988-01-01" @default.
- W2061874509 modified "2023-09-23" @default.
- W2061874509 title "NO LINKAGE BETWEEN HLA AND COMBINED DEFICIENCY OF 21-HYDROXYLASE AND 17–20 DESMOLASE" @default.
- W2061874509 doi "https://doi.org/10.1203/00006450-198801000-00177" @default.
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